MyHits has reached its end of life and no longer provides data or services. Thank you for your support and trust for more than 23 years!
However, the webserver will remain online in its present form at least until end of March 2025.
To ensure the future of MyHits, we would be happy if a person or community would take over the resource or parts of it. Interested? Please contact us (myhits [at] sib.swiss).
Pagni M, Ioannidis V, Cerutti L, Zahn-Zabal M, Jongeneel CV, Hau J, Martin O, Kuznetsov D, Falquet L.
MyHits: improvements to an interactive resource for analyzing protein sequences.
Nucleic Acids Res. 2007 Jul; 35(Web Server issue):W433-7
However, the webserver will remain online in its present form at least until end of March 2025.
To ensure the future of MyHits, we would be happy if a person or community would take over the resource or parts of it. Interested? Please contact us (myhits [at] sib.swiss).
Pagni M, Ioannidis V, Cerutti L, Zahn-Zabal M, Jongeneel CV, Hau J, Martin O, Kuznetsov D, Falquet L.
MyHits: improvements to an interactive resource for analyzing protein sequences.
Nucleic Acids Res. 2007 Jul; 35(Web Server issue):W433-7
- MyHits
| Description | RecName: Full=Tetratricopeptide repeat protein 21B; Short=TPR repeat protein 21B; AltName: Full=Intraflagellar transport 139 homolog; |
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| MyHits synonyms | TT21B_HUMAN , Q7Z4L5 , A8MUZ3 , Q3LIE4 , Q53T84 , Q6P4A1 , Q6PIF5 , Q8NCN3 , Q96MA4 , Q9HAK8 , 2C8505224012736B |
 Legends: 1, VARIANT F -> Y (found in a patient with Meckel- Gruber like syndrome also carrying variant C-671 in BBS7; hypomorphic variant in vitro; dbSNP:rs371571631). {ECO:0000269|PubMed:21258341}; 2, VARIANT K -> R. {ECO:0000269|PubMed:21258341}; 3, VARIANT W -> R (in NPHP12; with extra-renal features; functionally null mutation in vitro). {ECO:0000269|PubMed:21258341}; 4, VARIANT K -> E (in BBS; hypomorphic variant in vitro; the patient also carries a frame- shift mutation and variant M-501 in BBS12). {ECO:0000269|PubMed:21258341}; 5, VARIANT V -> M (in dbSNP:rs1432273). {ECO:0000269|PubMed:12880961, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; 6, VARIANT P -> L (in NPHP12; hypomorphic variant in vitro; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4; dbSNP:rs140511594). {ECO:0000269|PubMed:21258341}; 7, VARIANT Q -> L (found in a patient with Meckel- Gruber like syndrome also carrying variant V-280 on the same allele and variant G-1183 in RPGRIP1L; hypomorphic variant in vitro; dbSNP:rs80026831). {ECO:0000269|PubMed:21258341}; 8, VARIANT T -> S (in SRTD4, NPHP12 and BBS; hypomorphic variant in vitro; a patient with Bardet-Biedl syndrome also carries variants L-159 and T-346 in BBS12; also found in a patient with Meckel-Gruber syndrome carrying a homozygous variant in TMEM216; dbSNP:rs149925563). {ECO:0000269|PubMed:21258341}; 9, VARIANT D -> N (in dbSNP:rs74447004). {ECO:0000269|PubMed:21258341}; 10, VARIANT Y -> C (in BBS; the patient also carries a frameshift mutation and variant P-34 in BBS10; hypomorphic variant in vitro; dbSNP:rs377061787). {ECO:0000269|PubMed:21258341}; 11, VARIANT T -> A (in dbSNP:rs7592429). {ECO:0000269|PubMed:12880961, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; 12, VARIANT M -> V (found in a patient with Meckel- Gruber like syndrome also carrying L-222 on the same allele and variant G-1183 in RPGRIP1L; hypomorphic variant in vitro; dbSNP:rs112868646). {ECO:0000269|PubMed:21258341}; 13, VARIANT A -> S (found in a patient with Meckel- Gruber syndrome also carrying a mutation in CC2D2A; hypomorphic variant in vitro). {ECO:0000269|PubMed:21258341}; 14, VARIANT Y -> C (found in a patient with Meckel- Gruber syndrome also carrying N-1041 on the same allele; hypomorphic variant in vitro). {ECO:0000269|PubMed:21258341}; 15, VARIANT R -> G (in BBS; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro; dbSNP:rs185089786). {ECO:0000269|PubMed:21258341}; 16, VARIANT Q -> R (in dbSNP:rs199873923). {ECO:0000269|PubMed:21258341}; 17, VARIANT D -> E (in dbSNP:rs533077805). {ECO:0000269|PubMed:21258341}; 18, VARIANT P -> S (in dbSNP:rs16851307); 19, VARIANT L -> F (in dbSNP:rs2163649); 20, VARIANT H -> R (in NPHP12; functionally null mutation in vitro; dbSNP:rs146320075). {ECO:0000269|PubMed:21258341}; 21, VARIANT S -> N (in JBTS11; hypomorphic variant in vitro). {ECO:0000269|PubMed:21258341}; 22, VARIANT R -> C (in dbSNP:rs139441507). {ECO:0000269|PubMed:21258341}; 23, VARIANT I -> V (in dbSNP:rs77106136). {ECO:0000269|PubMed:21258341}; 24, VARIANT H -> R (in dbSNP:rs200291881). {ECO:0000269|PubMed:21258341}; 25, VARIANT S -> T (in dbSNP:rs759317777). {ECO:0000269|PubMed:21258341}; 26, VARIANT P -> L (found in a patient with Meckel- Gruber like syndrome carrying variant D- 559 in BBS1 and a variant in CC2D2A; unknown pathological significance; functionally null mutation in vitro; dbSNP:rs539769126). {ECO:0000269|PubMed:21258341}; 27, VARIANT D -> Y (in SRTD4; functionally null mutation in vitro). {ECO:0000269|PubMed:21258341}; 28, VARIANT L -> P (in SRTD4; functionally null mutation in vitro; dbSNP:rs387907060). {ECO:0000269|PubMed:21258341}; 29, VARIANT M -> V (found in a patient with Meckel- Gruber syndrome; functionally null mutation in vitro; dbSNP:rs766811699). {ECO:0000269|PubMed:21258341}; 30, VARIANT K -> R (in dbSNP:rs7595010); 31, VARIANT R -> C (in JBTS11; functionally null mutation in vitro; dbSNP:rs746700857). {ECO:0000269|PubMed:21258341}; 32, VARIANT R -> H (found in a patient with Meckel- Gruber syndrome also carrying a homozygous variant in CC2D2A; functionally null mutation in vitro; dbSNP:rs76726265). {ECO:0000269|PubMed:21258341}; 33, VARIANT Q -> R (found in a patient with Meckel- Gruber like syndrome; hypomorphic variant in vitro; dbSNP:rs137926033). {ECO:0000269|PubMed:21258341}; 34, VARIANT R -> Q (hypomorphic variant in vitro; dbSNP:rs751382210). {ECO:0000269|PubMed:21258341}; 35, VARIANT R -> W (functionally null mutation in vitro; dbSNP:rs151227843). {ECO:0000269|PubMed:21258341}; 36, VARIANT L -> V (found in a patient with Meckel- Gruber like syndrome; also found in patients with Bardet-Bied syndrome; also found in a patient with nephronophthisis with extra-renal features; hypomorphic variant in vitro; dbSNP:rs146496725). {ECO:0000269|PubMed:21258341}; 37, VARIANT M -> T (in JBTS11; dbSNP:rs777427926). {ECO:0000269|PubMed:22425360}; 38, VARIANT M -> V (in dbSNP:rs761842893). {ECO:0000269|PubMed:21258341}; 39, VARIANT Y -> C (in dbSNP:rs757541819). {ECO:0000269|PubMed:21258341}; 40, VARIANT D -> N (found in a patient with Meckel- Gruber syndrome also carrying C-347 on the same allele; functionally null mutation in vitro). {ECO:0000269|PubMed:21258341}; 41, VARIANT T -> R (in BBS; the patient also carries two mutations in BBS6; hypomorphic variant in vitro). {ECO:0000269|PubMed:21258341}; 42, VARIANT Y -> C (in NPHP12; hypomorphic variant in vitro). {ECO:0000269|PubMed:21258341}; 43, VARIANT M -> V (in JBTS11; hypomorphic variant in vitro; dbSNP:rs376308209). {ECO:0000269|PubMed:21258341}; 44, VARIANT I -> S (in BBS; the patients also carries two mutations in BBS1; functionally null mutation in vitro; dbSNP:rs189519760). {ECO:0000269|PubMed:21258341}; 45, VARIANT D -> H (in dbSNP:rs139537546). {ECO:0000269|PubMed:21258341}; 46, VARIANT R -> G. {ECO:0000269|PubMed:21258341}; 47, CONFLICT D -> N (in Ref. 1; BAE45724). {ECO:0000305}; 48, CONFLICT D -> G (in Ref. 4; BAB71404). {ECO:0000305}; 49, CONFLICT N -> D (in Ref. 4; BAB13836). {ECO:0000305}; 50, REPEAT TPR 1; 51, REPEAT TPR 2; 52, REPEAT TPR 3; 53, REPEAT TPR 4; 54, REPEAT TPR 5; 55, REPEAT TPR 6; 56, REPEAT TPR 7; 57, REPEAT TPR 8; 58, REPEAT TPR 9; 59, REPEAT TPR 10; 60, REPEAT TPR 11; 61, REPEAT TPR 12; 62, REPEAT TPR 13; 63, REPEAT TPR 14; 64, REPEAT TPR 15; 65, REPEAT TPR 16; 66, REPEAT TPR 17; 67, REPEAT TPR 18; 68, REPEAT TPR 19; 69, VAR_SEQ PASPGQPLCPLLRRCISVLE -> VSNYGTYFQGCVYLMFY ERT (in isoform 2). {ECO:0000303|PubMed:12880961}; 70, ipfam:TPR_8 [T]; 71, iprf:TPR [T]; 72, ismart:TPR [T]; 73, iprf:TPR_REGION [T].
| |
ID TT21B_HUMAN Reviewed; 1316 AA.
AC Q7Z4L5; A8MUZ3; Q3LIE4; Q53T84; Q6P4A1; Q6PIF5; Q8NCN3; Q96MA4;
AC Q9HAK8;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 12-APR-2017, entry version 129.
DE RecName: Full=Tetratricopeptide repeat protein 21B;
DE Short=TPR repeat protein 21B;
DE AltName: Full=Intraflagellar transport 139 homolog;
GN Name=TTC21B; Synonyms=IFT139 {ECO:0000303|PubMed:25860617}, KIAA1992;
GN ORFNames=Nbla10696;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS
RP MET-201 AND ALA-276.
RC TISSUE=Neuroblastoma;
RX PubMed=12880961; DOI=10.1016/S0304-3835(03)00085-5;
RA Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S.,
RA Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S.,
RA Hirato J., Nakagawara A.;
RT "Neuroblastoma oligo-capping cDNA project: toward the understanding of
RT the genesis and biology of neuroblastoma.";
RL Cancer Lett. 197:63-68(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP MET-201 AND ALA-276.
RC TISSUE=Adrenal cortex, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-701 AND 1029-1316 (ISOFORM
RP 1), AND VARIANTS MET-201 AND ALA-276.
RC TISSUE=Embryo, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-1316 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=12056414; DOI=10.1093/dnares/9.2.47;
RA Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S.,
RA Takahashi Y., Kitajima S., Saga Y., Koseki H.;
RT "Characterization of size-fractionated cDNA libraries generated by the
RT in vitro recombination-assisted method.";
RL DNA Res. 9:47-57(2002).
RN [6]
RP IDENTIFICATION IN THE IFT-A COMPLEX.
RX PubMed=20889716; DOI=10.1101/gad.1966210;
RA Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J.,
RA Jackson P.K.;
RT "TULP3 bridges the IFT-A complex and membrane phosphoinositides to
RT promote trafficking of G protein-coupled receptors into primary
RT cilia.";
RL Genes Dev. 24:2180-2193(2010).
RN [7]
RP INVOLVEMENT IN CILIOPATHIES, VARIANTS NPHP12 ARG-150; LEU-209;
RP SER-231; ARG-566 AND CYS-1167, VARIANTS SRTD4 SER-231; TYR-755 AND
RP PRO-795, VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186, VARIANTS BBS
RP GLU-157; SER-231; CYS-255; GLY-411; ARG-1103 AND SER-1208, VARIANTS
RP TYR-60; ARG-66; LEU-222; ASN-242; VAL-280; SER-327; CYS-347; ARG-412;
RP GLU-424; CYS-616; VAL-624; ARG-645; THR-724; LEU-753; VAL-844;
RP HIS-867; ARG-869; GLN-939; TRP-939; VAL-1002; VAL-1011; CYS-1035;
RP ASN-1041; HIS-1284 AND GLY-1311, CHARACTERIZATION OF VARIANTS NPHP12
RP ARG-150; LEU-209; SER-231; ARG-566 AND CYS-1167, CHARACTERIZATION OF
RP VARIANTS SRTD4 SER-231; TYR-755 AND PRO-795, CHARACTERIZATION OF
RP VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186, CHARACTERIZATION OF
RP VARIANTS BBS GLU-157; SER-231; CYS-255; GLY-411; ARG-1103 AND
RP SER-1208, AND CHARACTERIZATION OF VARIANTS TYR-60; LEU-222; VAL-280;
RP SER-327; CYS-347; LEU-753; VAL-844; HIS-867; ARG-869; GLN-939;
RP TRP-939; VAL-1002 AND ASN-1041.
RX PubMed=21258341; DOI=10.1038/ng.756;
RA Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J.,
RA Stoetzel C., Szymanska K., Ramaswami G., Logan C.V., Muzny D.M.,
RA Young A.C., Wheeler D.A., Cruz P., Morgan M., Lewis L.R.,
RA Cherukuri P., Maskeri B., Hansen N.F., Mullikin J.C., Blakesley R.W.,
RA Bouffard G.G., Gyapay G., Rieger S., Tonshoff B., Kern I.,
RA Soliman N.A., Neuhaus T.J., Swoboda K.J., Kayserili H.,
RA Gallagher T.E., Lewis R.A., Bergmann C., Otto E.A., Saunier S.,
RA Scambler P.J., Beales P.L., Gleeson J.G., Maher E.R., Attie-Bitach T.,
RA Dollfus H., Johnson C.A., Green E.D., Gibbs R.A., Hildebrandt F.,
RA Pierce E.A., Katsanis N.;
RT "TTC21B contributes both causal and modifying alleles across the
RT ciliopathy spectrum.";
RL Nat. Genet. 43:189-196(2011).
RN [8]
RP INTERACTION WITH TTC25.
RX PubMed=25860617; DOI=10.1371/journal.pone.0124378;
RA Xu Y., Cao J., Huang S., Feng D., Zhang W., Zhu X., Yan X.;
RT "Characterization of tetratricopeptide repeat-containing proteins
RT critical for cilia formation and function.";
RL PLoS ONE 10:E0124378-E0124378(2015).
RN [9]
RP VARIANT JBTS11 THR-1011.
RX PubMed=22425360; DOI=10.1016/j.ajhg.2012.02.011;
RA Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L.,
RA Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M.,
RA Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I.,
RA Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J.,
RA Michaud J.L.;
RT "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian
RT population.";
RL Am. J. Hum. Genet. 90:693-700(2012).
CC -!- FUNCTION: Component of the IFT complex A (IFT-A), a complex
CC required for retrograde ciliary transport. Negatively modulates
CC the SHH signal transduction (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Component of the IFT complex A (IFT-A) (PubMed:20889716).
CC Interacts with TTC25 (PubMed:25860617).
CC {ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:25860617}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z4L5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z4L5-2; Sequence=VSP_026306, VSP_026307;
CC Note=No experimental confirmation available.;
CC -!- DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of
CC disorders, collectively termed ciliopathies. Overlapping clinical
CC features include retinal degeneration, renal cystic disease,
CC skeletal abnormalities, fibrosis of various organ, and a complex
CC range of anatomical and functional defects of the central and
CC peripheral nervous system. The ciliopathy range of diseases
CC includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
CC syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune
CC asphyxiating thoracic dystrophy among others. TTC21B is causally
CC associated with diverse ciliopathies, and also acts as a modifier
CC gene across the ciliopathy spectrum. TTC21B mutations interact in
CC trans with mutations in other ciliopathy-causing genes and
CC contribute to disease manifestation and severity.
CC -!- DISEASE: Nephronophthisis 12 (NPHP12) [MIM:613820]: An autosomal
CC recessive disorder resulting in end-stage renal disease. It is a
CC progressive tubulo-interstitial kidney disorder histologically
CC characterized by modifications of the tubules with thickening of
CC the basement membrane, interstitial fibrosis and, in the advanced
CC stages, medullary cysts. Some patients manifest extra-renal
CC features including retinal, skeletal and central nervous system
CC defects. {ECO:0000269|PubMed:21258341}. Note=The disease is caused
CC by mutations affecting the gene represented in this entry.
CC -!- DISEASE: Short-rib thoracic dysplasia 4 with or without
CC polydactyly (SRTD4) [MIM:613819]: A form of short-rib thoracic
CC dysplasia, a group of autosomal recessive ciliopathies that are
CC characterized by a constricted thoracic cage, short ribs,
CC shortened tubular bones, and a 'trident' appearance of the
CC acetabular roof. Polydactyly is variably present. Non-skeletal
CC involvement can include cleft lip/palate as well as anomalies of
CC major organs such as the brain, eye, heart, kidneys, liver,
CC pancreas, intestines, and genitalia. Some forms of the disease are
CC lethal in the neonatal period due to respiratory insufficiency
CC secondary to a severely restricted thoracic cage, whereas others
CC are compatible with life. Disease spectrum encompasses Ellis-van
CC Creveld syndrome, asphyxiating thoracic dystrophy (Jeune
CC syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly
CC syndrome. {ECO:0000269|PubMed:21258341}. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- DISEASE: Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome
CC characterized by usually severe pigmentary retinopathy, early-
CC onset obesity, polydactyly, hypogenitalism, renal malformation and
CC mental retardation. Secondary features include diabetes mellitus,
CC hypertension and congenital heart disease. Bardet-Biedl syndrome
CC inheritance is autosomal recessive, but three mutated alleles (two
CC at one locus, and a third at a second locus) may be required for
CC clinical manifestation of some forms of the disease.
CC {ECO:0000269|PubMed:21258341}. Note=The disease may be caused by
CC mutations affecting the gene represented in this entry.
CC -!- DISEASE: Joubert syndrome 11 (JBTS11) [MIM:613820]: A disorder
CC presenting with cerebellar ataxia, oculomotor apraxia, hypotonia,
CC neonatal breathing abnormalities and psychomotor delay.
CC Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving
CC the appearance of a molar tooth on transaxial slices (molar tooth
CC sign). Additional variable features include retinal dystrophy and
CC renal disease. {ECO:0000269|PubMed:21258341,
CC ECO:0000269|PubMed:22425360}. Note=The disease may be caused by
CC mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TTC21 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAY14750.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAB13836.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR EMBL; AB073395; BAE45724.1; -; mRNA.
DR EMBL; AC010127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011241; AAY14750.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC035767; AAH35767.1; -; mRNA.
DR EMBL; BC055424; AAH55424.1; -; mRNA.
DR EMBL; BC063579; AAH63579.1; -; mRNA.
DR EMBL; AK021519; BAB13836.1; ALT_INIT; mRNA.
DR EMBL; AK057268; BAB71404.1; -; mRNA.
DR EMBL; AB082523; BAC02701.1; -; mRNA.
DR CCDS; CCDS33315.1; -. [Q7Z4L5-1]
DR RefSeq; NP_079029.3; NM_024753.4. [Q7Z4L5-1]
DR UniGene; Hs.310672; -.
DR ProteinModelPortal; Q7Z4L5; -.
DR BioGrid; 122904; 5.
DR IntAct; Q7Z4L5; 11.
DR STRING; 9606.ENSP00000243344; -.
DR iPTMnet; Q7Z4L5; -.
DR PhosphoSitePlus; Q7Z4L5; -.
DR BioMuta; TTC21B; -.
DR DMDM; 313104038; -.
DR EPD; Q7Z4L5; -.
DR MaxQB; Q7Z4L5; -.
DR PaxDb; Q7Z4L5; -.
DR PeptideAtlas; Q7Z4L5; -.
DR PRIDE; Q7Z4L5; -.
DR Ensembl; ENST00000243344; ENSP00000243344; ENSG00000123607. [Q7Z4L5-1]
DR GeneID; 79809; -.
DR KEGG; hsa:79809; -.
DR UCSC; uc002udk.4; human. [Q7Z4L5-1]
DR CTD; 79809; -.
DR DisGeNET; 79809; -.
DR GeneCards; TTC21B; -.
DR GeneReviews; TTC21B; -.
DR H-InvDB; HIX0002562; -.
DR H-InvDB; HIX0024036; -.
DR HGNC; HGNC:25660; TTC21B.
DR HPA; HPA035494; -.
DR HPA; HPA035495; -.
DR MalaCards; TTC21B; -.
DR MIM; 209900; phenotype.
DR MIM; 612014; gene.
DR MIM; 613819; phenotype.
DR MIM; 613820; phenotype.
DR neXtProt; NX_Q7Z4L5; -.
DR OpenTargets; ENSG00000123607; -.
DR Orphanet; 93591; Infantile nephronophthisis.
DR Orphanet; 474; Jeune syndrome.
DR PharmGKB; PA134882767; -.
DR eggNOG; ENOG410IEX1; Eukaryota.
DR eggNOG; ENOG410XV69; LUCA.
DR GeneTree; ENSGT00390000005979; -.
DR HOVERGEN; HBG108607; -.
DR InParanoid; Q7Z4L5; -.
DR KO; K19673; -.
DR OMA; VYNMIEI; -.
DR OrthoDB; EOG091G00TY; -.
DR PhylomeDB; Q7Z4L5; -.
DR TreeFam; TF314664; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR ChiTaRS; TTC21B; human.
DR GenomeRNAi; 79809; -.
DR PRO; PR:Q7Z4L5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR Bgee; ENSG00000123607; -.
DR CleanEx; HS_TTC21B; -.
DR ExpressionAtlas; Q7Z4L5; baseline and differential.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; TAS:Reactome.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0030991; C:intraciliary transport particle A; IDA:UniProtKB.
DR GO; GO:0000790; C:nuclear chromatin; IEA:Ensembl.
DR GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; IEA:Ensembl.
DR GO; GO:0035721; P:intraciliary retrograde transport; IEA:Ensembl.
DR GO; GO:0035735; P:intraciliary transport involved in cilium assembly; TAS:Reactome.
DR GO; GO:0061512; P:protein localization to cilium; IMP:MGI.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IMP:MGI.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0021591; P:ventricular system development; IEA:Ensembl.
DR Gene3D; 1.25.40.10; -; 11.
DR InterPro; IPR013026; TPR-contain_dom.
DR InterPro; IPR011990; TPR-like_helical_dom.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF13181; TPR_8; 3.
DR SMART; SM00028; TPR; 18.
DR SUPFAM; SSF48452; SSF48452; 5.
DR PROSITE; PS50005; TPR; 10.
DR PROSITE; PS50293; TPR_REGION; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; Bardet-Biedl syndrome; Cell projection;
KW Ciliopathy; Cilium; Complete proteome; Cytoplasm; Cytoskeleton;
KW Disease mutation; Joubert syndrome; Meckel syndrome;
KW Mental retardation; Nephronophthisis; Obesity; Polymorphism;
KW Reference proteome; Repeat; TPR repeat.
FT CHAIN 1 1316 Tetratricopeptide repeat protein 21B.
FT /FTId=PRO_0000291917.
FT REPEAT 108 141 TPR 1.
FT REPEAT 145 178 TPR 2.
FT REPEAT 180 211 TPR 3.
FT REPEAT 285 323 TPR 4.
FT REPEAT 324 357 TPR 5.
FT REPEAT 492 525 TPR 6.
FT REPEAT 563 596 TPR 7.
FT REPEAT 617 650 TPR 8.
FT REPEAT 722 755 TPR 9.
FT REPEAT 757 789 TPR 10.
FT REPEAT 791 822 TPR 11.
FT REPEAT 831 864 TPR 12.
FT REPEAT 884 917 TPR 13.
FT REPEAT 919 951 TPR 14.
FT REPEAT 952 985 TPR 15.
FT REPEAT 1023 1056 TPR 16.
FT REPEAT 1197 1230 TPR 17.
FT REPEAT 1232 1264 TPR 18.
FT REPEAT 1266 1299 TPR 19.
FT VAR_SEQ 463 482 PASPGQPLCPLLRRCISVLE -> VSNYGTYFQGCVYLMFY
FT ERT (in isoform 2).
FT {ECO:0000303|PubMed:12880961}.
FT /FTId=VSP_026306.
FT VAR_SEQ 483 1316 Missing (in isoform 2).
FT {ECO:0000303|PubMed:12880961}.
FT /FTId=VSP_026307.
FT VARIANT 60 60 F -> Y (found in a patient with Meckel-
FT Gruber like syndrome also carrying
FT variant C-671 in BBS7; hypomorphic
FT variant in vitro; dbSNP:rs371571631).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065514.
FT VARIANT 66 66 K -> R. {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065515.
FT VARIANT 150 150 W -> R (in NPHP12; with extra-renal
FT features; functionally null mutation in
FT vitro). {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065516.
FT VARIANT 157 157 K -> E (in BBS; hypomorphic variant in
FT vitro; the patient also carries a frame-
FT shift mutation and variant M-501 in
FT BBS12). {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065517.
FT VARIANT 201 201 V -> M (in dbSNP:rs1432273).
FT {ECO:0000269|PubMed:12880961,
FT ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_032888.
FT VARIANT 209 209 P -> L (in NPHP12; hypomorphic variant in
FT vitro; also found in a patient with
FT Bardet-Biedl syndrome carrying two
FT variants in BBS4; dbSNP:rs140511594).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065518.
FT VARIANT 222 222 Q -> L (found in a patient with Meckel-
FT Gruber like syndrome also carrying
FT variant V-280 on the same allele and
FT variant G-1183 in RPGRIP1L; hypomorphic
FT variant in vitro; dbSNP:rs80026831).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065519.
FT VARIANT 231 231 T -> S (in SRTD4, NPHP12 and BBS;
FT hypomorphic variant in vitro; a patient
FT with Bardet-Biedl syndrome also carries
FT variants L-159 and T-346 in BBS12; also
FT found in a patient with Meckel-Gruber
FT syndrome carrying a homozygous variant in
FT TMEM216; dbSNP:rs149925563).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065520.
FT VARIANT 242 242 D -> N (in dbSNP:rs74447004).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065521.
FT VARIANT 255 255 Y -> C (in BBS; the patient also carries
FT a frameshift mutation and variant P-34 in
FT BBS10; hypomorphic variant in vitro;
FT dbSNP:rs377061787).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065522.
FT VARIANT 276 276 T -> A (in dbSNP:rs7592429).
FT {ECO:0000269|PubMed:12880961,
FT ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334}.
FT /FTId=VAR_032889.
FT VARIANT 280 280 M -> V (found in a patient with Meckel-
FT Gruber like syndrome also carrying L-222
FT on the same allele and variant G-1183 in
FT RPGRIP1L; hypomorphic variant in vitro;
FT dbSNP:rs112868646).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065523.
FT VARIANT 327 327 A -> S (found in a patient with Meckel-
FT Gruber syndrome also carrying a mutation
FT in CC2D2A; hypomorphic variant in vitro).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065524.
FT VARIANT 347 347 Y -> C (found in a patient with Meckel-
FT Gruber syndrome also carrying N-1041 on
FT the same allele; hypomorphic variant in
FT vitro). {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065525.
FT VARIANT 411 411 R -> G (in BBS; the patient also carries
FT a homozygous frameshift mutation in BBS7;
FT hypomorphic variant in vitro;
FT dbSNP:rs185089786).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065526.
FT VARIANT 412 412 Q -> R (in dbSNP:rs199873923).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065527.
FT VARIANT 424 424 D -> E (in dbSNP:rs533077805).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065528.
FT VARIANT 463 463 P -> S (in dbSNP:rs16851307).
FT /FTId=VAR_032890.
FT VARIANT 473 473 L -> F (in dbSNP:rs2163649).
FT /FTId=VAR_032891.
FT VARIANT 566 566 H -> R (in NPHP12; functionally null
FT mutation in vitro; dbSNP:rs146320075).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065529.
FT VARIANT 591 591 S -> N (in JBTS11; hypomorphic variant in
FT vitro). {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065530.
FT VARIANT 616 616 R -> C (in dbSNP:rs139441507).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065531.
FT VARIANT 624 624 I -> V (in dbSNP:rs77106136).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065532.
FT VARIANT 645 645 H -> R (in dbSNP:rs200291881).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065533.
FT VARIANT 724 724 S -> T (in dbSNP:rs759317777).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065534.
FT VARIANT 753 753 P -> L (found in a patient with Meckel-
FT Gruber like syndrome carrying variant D-
FT 559 in BBS1 and a variant in CC2D2A;
FT unknown pathological significance;
FT functionally null mutation in vitro;
FT dbSNP:rs539769126).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065535.
FT VARIANT 755 755 D -> Y (in SRTD4; functionally null
FT mutation in vitro).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065536.
FT VARIANT 795 795 L -> P (in SRTD4; functionally null
FT mutation in vitro; dbSNP:rs387907060).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065537.
FT VARIANT 844 844 M -> V (found in a patient with Meckel-
FT Gruber syndrome; functionally null
FT mutation in vitro; dbSNP:rs766811699).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065538.
FT VARIANT 846 846 K -> R (in dbSNP:rs7595010).
FT /FTId=VAR_032892.
FT VARIANT 867 867 R -> C (in JBTS11; functionally null
FT mutation in vitro; dbSNP:rs746700857).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065539.
FT VARIANT 867 867 R -> H (found in a patient with Meckel-
FT Gruber syndrome also carrying a
FT homozygous variant in CC2D2A;
FT functionally null mutation in vitro;
FT dbSNP:rs76726265).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065540.
FT VARIANT 869 869 Q -> R (found in a patient with Meckel-
FT Gruber like syndrome; hypomorphic variant
FT in vitro; dbSNP:rs137926033).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065541.
FT VARIANT 939 939 R -> Q (hypomorphic variant in vitro;
FT dbSNP:rs751382210).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065542.
FT VARIANT 939 939 R -> W (functionally null mutation in
FT vitro; dbSNP:rs151227843).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065543.
FT VARIANT 1002 1002 L -> V (found in a patient with Meckel-
FT Gruber like syndrome; also found in
FT patients with Bardet-Bied syndrome; also
FT found in a patient with nephronophthisis
FT with extra-renal features; hypomorphic
FT variant in vitro; dbSNP:rs146496725).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065544.
FT VARIANT 1011 1011 M -> T (in JBTS11; dbSNP:rs777427926).
FT {ECO:0000269|PubMed:22425360}.
FT /FTId=VAR_068172.
FT VARIANT 1011 1011 M -> V (in dbSNP:rs761842893).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065545.
FT VARIANT 1035 1035 Y -> C (in dbSNP:rs757541819).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065546.
FT VARIANT 1041 1041 D -> N (found in a patient with Meckel-
FT Gruber syndrome also carrying C-347 on
FT the same allele; functionally null
FT mutation in vitro).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065547.
FT VARIANT 1103 1103 T -> R (in BBS; the patient also carries
FT two mutations in BBS6; hypomorphic
FT variant in vitro).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065548.
FT VARIANT 1167 1167 Y -> C (in NPHP12; hypomorphic variant in
FT vitro). {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065549.
FT VARIANT 1186 1186 M -> V (in JBTS11; hypomorphic variant in
FT vitro; dbSNP:rs376308209).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065550.
FT VARIANT 1208 1208 I -> S (in BBS; the patients also carries
FT two mutations in BBS1; functionally null
FT mutation in vitro; dbSNP:rs189519760).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065551.
FT VARIANT 1284 1284 D -> H (in dbSNP:rs139537546).
FT {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065552.
FT VARIANT 1311 1311 R -> G. {ECO:0000269|PubMed:21258341}.
FT /FTId=VAR_065553.
FT CONFLICT 227 227 D -> N (in Ref. 1; BAE45724).
FT {ECO:0000305}.
FT CONFLICT 669 669 D -> G (in Ref. 4; BAB71404).
FT {ECO:0000305}.
FT CONFLICT 1187 1187 N -> D (in Ref. 4; BAB13836).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 1198 1225 ipfam:TPR_8 [T]
FT MYHIT 756 789 iprf:TPR [T]
FT MYHIT 324 357 iprf:TPR [T]
FT MYHIT 108 141 ismart:TPR [T]
FT MYHIT 1197 1230 iprf:TPR [T]
FT MYHIT 108 141 iprf:TPR [T]
FT MYHIT 492 559 iprf:TPR_REGION [T]
FT MYHIT 952 985 iprf:TPR [T]
FT MYHIT 654 687 ismart:TPR [T]
FT MYHIT 722 755 iprf:TPR [T]
FT MYHIT 1266 1299 ismart:TPR [T]
FT MYHIT 952 985 ismart:TPR [T]
FT MYHIT 790 822 ismart:TPR [T]
FT MYHIT 756 789 ismart:TPR [T]
FT MYHIT 492 525 ismart:TPR [T]
FT MYHIT 791 816 ipfam:TPR_8 [T]
FT MYHIT 1023 1055 ismart:TPR [T]
FT MYHIT 1122 1299 iprf:TPR_REGION [T]
FT MYHIT 1266 1299 iprf:TPR [T]
FT MYHIT 178 211 ismart:TPR [T]
FT MYHIT 492 525 iprf:TPR [T]
FT MYHIT 526 559 ismart:TPR [T]
FT MYHIT 831 864 iprf:TPR [T]
FT MYHIT 1197 1230 ismart:TPR [T]
FT MYHIT 884 917 ismart:TPR [T]
FT MYHIT 324 357 ismart:TPR [T]
FT MYHIT 1157 1190 ismart:TPR [T]
FT MYHIT 654 1019 iprf:TPR_REGION [T]
FT MYHIT 722 755 ismart:TPR [T]
FT MYHIT 563 596 ismart:TPR [T]
FT MYHIT 108 141 iprf:TPR_REGION [T]
FT MYHIT 723 755 ipfam:TPR_8 [T]
FT MYHIT 884 917 iprf:TPR [T]
FT MYHIT 313 357 iprf:TPR_REGION [T]
FT MYHIT 831 864 ismart:TPR [T]
FT MYHIT 918 951 ismart:TPR [T]
SQ SEQUENCE 1316 AA; 150937 MW; 2C8505224012736B CRC64;
MDSQELKTLI NYYCQERYFH HVLLVASEGI KRYGSDPVFR FYHAYGTLME GKTQEALREF
EAIKNKQDVS LCSLLALIYA HKMSPNPDRE AILESDARVK EQRKGAGEKA LYHAGLFLWH
IGRHDKAREY IDRMIKISDG SKQGHVLKAW LDITRGKEPY TKKALKYFEE GLQDGNDTFA
LLGKAQCLEM RQNYSGALET VNQIIVNFPS FLPAFVKKMK LQLALQDWDQ TVETAQRLLL
QDSQNVEALR MQALYYVCRE GDIEKASTKL ENLGNTLDAM EPQNAQLFYN ITLAFSRTCG
RSQLILQKIQ TLLERAFSLN PQQSEFATEL GYQMILQGRV KEALKWYKTA MTLDETSVSA
LVGFIQCQLI EGQLQDADQQ LEFLNEIQQS IGKSAELIYL HAVLAMKKNK RQEEVINLLN
DVLDTHFSQL EGLPLGIQYF EKLNPDFLLE IVMEYLSFCP MQPASPGQPL CPLLRRCISV
LETVVRTVPG LLQTVFLIAK VKYLSGDIEA AFNNLQHCLE HNPSYADAHL LLAQVYLSQE
KVKLCSQSLE LCLSYDFKVR DYPLYHLIKA QSQKKMGEIA DAIKTLHMAM SLPGMKRIGA
STKSKDRKTE VDTSHRLSIF LELIDVHRLN GEQHEATKVL QDAIHEFSGT SEEVRVTIAN
ADLALAQGDI ERALSILQNV TAEQPYFIEA REKMADIYLK HRKDKMLYIT CFREIAERMA
NPRSFLLLGD AYMNILEPEE AIVAYEQALN QNPKDGTLAS KMGKALIKTH NYSMAITYYE
AALKTGQKNY LCYDLAELLL KLKWYDKAEK VLQHALAHEP VNELSALMED GRCQVLLAKV
YSKMEKLGDA ITALQQAREL QARVLKRVQM EQPDAVPAQK HLAAEICAEI AKHSVAQRDY
EKAIKFYREA LVHCETDNKI MLELARLYLA QDDPDSCLRQ CALLLQSDQD NEAATMMMAD
LMFRKQDYEQ AVFHLQQLLE RKPDNYMTLS RLIDLLRRCG KLEDVPRFFS MAEKRNSRAK
LEPGFQYCKG LYLWYTGEPN DALRHFNKAR KDRDWGQNAL YNMIEICLNP DNETVGGEVF
ENLDGDLGNS TEKQESVQLA VRTAEKLLKE LKPQTVQGHV QLRIMENYCL MATKQKSNVE
QALNTFTEIA ASEKEHIPAL LGMATAYMIL KQTPRARNQL KRIAKMNWNA IDAEEFEKSW
LLLADIYIQS AKYDMAEDLL KRCLRHNRSC CKAYEYMGYI MEKEQAYTDA ALNYEMAWKY
SNRTNPAVGY KLAFNYLKAK RYVDSIDICH QVLEAHPTYP KIRKDILDKA RASLRP
//
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