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DescriptionRecName: Full=Intraflagellar transport protein 172 homolog;
MyHits logo
MyHits synonymsIF172_HUMAN , Q9UG01 , A5PKZ0 , B2RNU5 , Q86X44 , Q96HW4 , Q9UFJ9 , Q9ULP1 , 78AA83802D79E3CE
match map segment
ipfam:WD40 ismart:WD40 ismart:WD40 ismart:WD40 ismart:WD40 ismart:WD40 ismart:WD40 ismart:WD40  
Legends: 1, N-acetylmethionine. {ECO:0000269|PubMed:20388717}; 2, Omega-N-methylarginine. {ECO:0000250|UniProtKB:Q6VH22}; 3, CROSSLNK Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); 4, VARIANT L -> P (in RP71; represents a null allele; dbSNP:rs786205857). {ECO:0000269|PubMed:25168386}; 5, VARIANT R -> W (in SRTD10; dbSNP:rs145541911). {ECO:0000269|PubMed:24140113}; 6, VARIANT I -> N (in SRTD10; dbSNP:rs587777085). {ECO:0000269|PubMed:24140113}; 7, VARIANT R -> H (in dbSNP:rs704793); 8, VARIANT L -> P (in SRTD10; dbSNP:rs587777080). {ECO:0000269|PubMed:24140113}; 9, VARIANT R -> C (in SRTD10; dbSNP:rs587777079). {ECO:0000269|PubMed:24140113}; 10, VARIANT H -> Q (in RP71; hypomorphic mutation; dbSNP:rs786205855). {ECO:0000269|PubMed:25168386}; 11, VARIANT D -> E (in RP71; hypomorphic mutation; dbSNP:rs786205856). {ECO:0000269|PubMed:25168386}; 12, VARIANT C -> R (in SRTD10; dbSNP:rs149614625). {ECO:0000269|PubMed:24140113}; 13, CONFLICT P -> L (in Ref. 4; CAB55914). {ECO:0000305}; 14, REPEAT WD 1; 15, REPEAT WD 2; 16, REPEAT WD 3; 17, REPEAT WD 4; 18, REPEAT WD 5; 19, REPEAT WD 6; 20, REPEAT WD 7; 21, REPEAT WD 8; 22, REPEAT WD 9; 23, REPEAT TPR 1; 24, REPEAT TPR 2; 25, REPEAT TPR 3; 26, REPEAT TPR 4; 27, REPEAT TPR 5; 28, REPEAT TPR 6; 29, REPEAT TPR 7; 30, REPEAT TPR 8; 31, REPEAT TPR 9; 32, REPEAT TPR 10; 33, REPEAT TPR 11; 34, REPEAT TPR 12; 35, REPEAT TPR 13; 36, REPEAT TPR 14; 37, VAR_SEQ LHLYDIESCSKTMILNFCSYMQWV -> VRRATKALGIGWP TEGVRQAATRD (in isoform 3). {ECO:0000303|PubMed:15489334}; 38, VAR_SEQ CENLVKSSEANS -> AVLSPSSSVKTW (in isoform 2). {ECO:0000303|PubMed:17974005}; 39, VAR_SEQ Missing (in isoform 2). {ECO:0000303|PubMed:17974005}; 40, VARIANT Missing (in SRTD10). {ECO:0000269|PubMed:24140113}; 41, ipfam:WD40 [T]; 42, ismart:WD40 [T].
ID   IF172_HUMAN             Reviewed;        1749 AA.
AC   Q9UG01; A5PKZ0; B2RNU5; Q86X44; Q96HW4; Q9UFJ9; Q9ULP1;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   08-APR-2008, sequence version 2.
DT   12-APR-2017, entry version 124.
DE   RecName: Full=Intraflagellar transport protein 172 homolog;
GN   Name=IFT172; Synonyms=KIAA1179;
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 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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC   TISSUE=Brain, and Lung;
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 97-1749 (ISOFORM 1), AND
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1203-1737 (ISOFORM 2).
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 660-1749 (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA   Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT   "Characterization of cDNA clones selected by the GeneMark analysis
RT   from size-fractionated cDNA libraries from human brain.";
RL   DNA Res. 6:329-336(1999).
RN   [6]
RP   SUMOYLATION AT LYS-4, AND ACETYLATION AT MET-1.
RC   TISSUE=Cervix carcinoma;
RX   PubMed=20388717; DOI=10.1074/jbc.M110.106955;
RA   Blomster H.A., Imanishi S.Y., Siimes J., Kastu J., Morrice N.A.,
RA   Eriksson J.E., Sistonen L.;
RT   "In vivo identification of sumoylation sites by a signature tag and
RT   cysteine-targeted affinity purification.";
RL   J. Biol. Chem. 285:19324-19329(2010).
RN   [7]
RP   SUBCELLULAR LOCATION, AND VARIANTS SRTD10 TRP-296; ASN-411;
RP   464-ASP-ILE-465 DEL; PRO-1536; CYS-1544 AND ARG-1727.
RX   PubMed=24140113; DOI=10.1016/j.ajhg.2013.09.012;
RG   UK10K Consortium;
RA   Halbritter J., Bizet A.A., Schmidts M., Porath J.D., Braun D.A.,
RA   Gee H.Y., McInerney-Leo A.M., Krug P., Filhol E., Davis E.E.,
RA   Airik R., Czarnecki P.G., Lehman A.M., Trnka P., Nitschke P.,
RA   Bole-Feysot C., Schueler M., Knebelmann B., Burtey S., Szabo A.J.,
RA   Tory K., Leo P.J., Gardiner B., McKenzie F.A., Zankl A., Brown M.A.,
RA   Hartley J.L., Maher E.R., Li C., Leroux M.R., Scambler P.J.,
RA   Zhan S.H., Jones S.J., Kayserili H., Tuysuz B., Moorani K.N.,
RA   Constantinescu A., Krantz I.D., Kaplan B.S., Shah J.V., Hurd T.W.,
RA   Doherty D., Katsanis N., Duncan E.L., Otto E.A., Beales P.L.,
RA   Mitchison H.M., Saunier S., Hildebrandt F.;
RT   "Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino
RT   syndromes in humans.";
RL   Am. J. Hum. Genet. 93:915-925(2013).
RN   [8]
RP   INVOLVEMENT IN RP71, VARIANTS RP71 PRO-257; GLN-1567 AND GLU-1605, AND
RP   CHARACTERIZATION OF VARIANTS RP71 PRO-257; GLN-1567 AND GLU-1605.
RX   PubMed=25168386; DOI=10.1093/hmg/ddu441;
RA   Bujakowska K.M., Zhang Q., Siemiatkowska A.M., Liu Q., Place E.,
RA   Falk M.J., Consugar M., Lancelot M.E., Antonio A., Lonjou C.,
RA   Carpentier W., Mohand-Said S., den Hollander A.I., Cremers F.P.,
RA   Leroy B.P., Gai X., Sahel J.A., van den Born L.I., Collin R.W.,
RA   Zeitz C., Audo I., Pierce E.A.;
RT   "Mutations in IFT172 cause isolated retinal degeneration and Bardet-
RT   Biedl syndrome.";
RL   Hum. Mol. Genet. 24:230-242(2015).
CC   -!- FUNCTION: Required for the maintenance and formation of cilia.
CC       Plays an indirect role in hedgehog (Hh) signaling, cilia being
CC       required for all activity of the hedgehog pathway (By similarity).
CC       {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with IFT88. Interacts with RABL2/RABL2A; binds
CC       preferentially to GDP-bound RABL2. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC       {ECO:0000269|PubMed:24140113}. Note=Localized to the axoneme and
CC       around the base of the cilium.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9UG01-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9UG01-2; Sequence=VSP_032848, VSP_032849;
CC         Note=No experimental confirmation available.;
CC       Name=3;
CC         IsoId=Q9UG01-3; Sequence=VSP_054428, VSP_054429;
CC         Note=No experimental confirmation available.;
CC   -!- DISEASE: Short-rib thoracic dysplasia 10 with or without
CC       polydactyly (SRTD10) [MIM:615630]: 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:24140113}. Note=The disease is
CC       caused by mutations affecting the gene represented in this entry.
CC   -!- DISEASE: Retinitis pigmentosa 71 (RP71) [MIM:616394]: A retinal
CC       dystrophy belonging to the group of pigmentary retinopathies.
CC       Retinitis pigmentosa is characterized by retinal pigment deposits
CC       visible on fundus examination and primary loss of rod
CC       photoreceptor cells followed by secondary loss of cone
CC       photoreceptors. Patients typically have night vision blindness and
CC       loss of midperipheral visual field. As their condition progresses,
CC       they lose their far peripheral visual field and eventually central
CC       vision as well. {ECO:0000269|PubMed:25168386}. Note=The disease is
CC       caused by mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the IFT172 family. {ECO:0000305}.
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DR   EMBL; AC074117; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471053; EAX00573.1; -; Genomic_DNA.
DR   EMBL; BC008024; AAH08024.1; -; mRNA.
DR   EMBL; BC047294; AAH47294.1; -; mRNA.
DR   EMBL; BC137126; AAI37127.1; -; mRNA.
DR   EMBL; BC142675; AAI42676.1; -; mRNA.
DR   EMBL; BC142729; AAI42730.1; -; mRNA.
DR   EMBL; AL110218; CAB53678.1; -; mRNA.
DR   EMBL; AL117421; CAB55914.2; -; mRNA.
DR   EMBL; AB033005; BAA86493.1; -; mRNA.
DR   CCDS; CCDS1755.1; -. [Q9UG01-1]
DR   PIR; T14758; T14758.
DR   PIR; T17224; T17224.
DR   RefSeq; NP_056477.1; NM_015662.2. [Q9UG01-1]
DR   UniGene; Hs.127401; -.
DR   ProteinModelPortal; Q9UG01; -.
DR   BioGrid; 117589; 13.
DR   IntAct; Q9UG01; 24.
DR   STRING; 9606.ENSP00000260570; -.
DR   iPTMnet; Q9UG01; -.
DR   PhosphoSitePlus; Q9UG01; -.
DR   BioMuta; IFT172; -.
DR   DMDM; 182662418; -.
DR   EPD; Q9UG01; -.
DR   PaxDb; Q9UG01; -.
DR   PeptideAtlas; Q9UG01; -.
DR   PRIDE; Q9UG01; -.
DR   Ensembl; ENST00000260570; ENSP00000260570; ENSG00000138002. [Q9UG01-1]
DR   Ensembl; ENST00000359466; ENSP00000352443; ENSG00000138002. [Q9UG01-3]
DR   GeneID; 26160; -.
DR   KEGG; hsa:26160; -.
DR   UCSC; uc002rku.4; human. [Q9UG01-1]
DR   CTD; 26160; -.
DR   DisGeNET; 26160; -.
DR   GeneCards; IFT172; -.
DR   H-InvDB; HIX0001924; -.
DR   H-InvDB; HIX0119024; -.
DR   HGNC; HGNC:30391; IFT172.
DR   HPA; HPA044893; -.
DR   MalaCards; IFT172; -.
DR   MIM; 607386; gene.
DR   MIM; 615630; phenotype.
DR   MIM; 616394; phenotype.
DR   neXtProt; NX_Q9UG01; -.
DR   OpenTargets; ENSG00000138002; -.
DR   Orphanet; 474; Jeune syndrome.
DR   Orphanet; 140969; Saldino-Mainzer syndrome.
DR   PharmGKB; PA142671666; -.
DR   eggNOG; KOG3616; Eukaryota.
DR   eggNOG; ENOG410XR2C; LUCA.
DR   GeneTree; ENSGT00440000033648; -.
DR   HOGENOM; HOG000286003; -.
DR   HOVERGEN; HBG098449; -.
DR   InParanoid; Q9UG01; -.
DR   KO; K19676; -.
DR   OMA; EDIHLKN; -.
DR   OrthoDB; EOG091G02TF; -.
DR   PhylomeDB; Q9UG01; -.
DR   TreeFam; TF312901; -.
DR   Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR   Reactome; R-HSA-5620924; Intraflagellar transport.
DR   SIGNOR; Q9UG01; -.
DR   ChiTaRS; IFT172; human.
DR   GenomeRNAi; 26160; -.
DR   PRO; PR:Q9UG01; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   Bgee; ENSG00000138002; -.
DR   CleanEx; HS_IFT172; -.
DR   ExpressionAtlas; Q9UG01; baseline and differential.
DR   Genevisible; Q9UG01; HS.
DR   GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR   GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR   GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR   GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR   GO; GO:1903561; C:extracellular vesicle; IDA:UniProtKB.
DR   GO; GO:0030992; C:intraciliary transport particle B; ISS:UniProtKB.
DR   GO; GO:0097598; C:sperm cytoplasmic droplet; IEA:Ensembl.
DR   GO; GO:0097225; C:sperm midpiece; IEA:Ensembl.
DR   GO; GO:0097228; C:sperm principal piece; IEA:Ensembl.
DR   GO; GO:0060348; P:bone development; IEA:Ensembl.
DR   GO; GO:0007420; P:brain development; IEA:Ensembl.
DR   GO; GO:0060271; P:cilium assembly; IDA:UniProtKB.
DR   GO; GO:0031122; P:cytoplasmic microtubule organization; IEA:Ensembl.
DR   GO; GO:0009953; P:dorsal/ventral pattern formation; IEA:Ensembl.
DR   GO; GO:0008544; P:epidermis development; IEA:Ensembl.
DR   GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR   GO; GO:0061525; P:hindgut development; IEA:Ensembl.
DR   GO; GO:0035735; P:intraciliary transport involved in cilium assembly; TAS:Reactome.
DR   GO; GO:0070986; P:left/right axis specification; IEA:Ensembl.
DR   GO; GO:0060173; P:limb development; IEA:Ensembl.
DR   GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IEA:Ensembl.
DR   GO; GO:0001843; P:neural tube closure; IEA:Ensembl.
DR   GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR   GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR   GO; GO:0060021; P:palate development; IEA:Ensembl.
DR   GO; GO:0045880; P:positive regulation of smoothened signaling pathway; IEA:Ensembl.
DR   GO; GO:0016485; P:protein processing; IEA:Ensembl.
DR   GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR   GO; GO:0021522; P:spinal cord motor neuron differentiation; IEA:Ensembl.
DR   Gene3D; 1.25.40.10; -; 5.
DR   Gene3D; 2.130.10.10; -; 2.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR011990; TPR-like_helical_dom.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR   InterPro; IPR001680; WD40_repeat.
DR   InterPro; IPR017986; WD40_repeat_dom.
DR   Pfam; PF00400; WD40; 1.
DR   SMART; SM00320; WD40; 7.
DR   SUPFAM; SSF48371; SSF48371; 1.
DR   SUPFAM; SSF48452; SSF48452; 2.
DR   SUPFAM; SSF50978; SSF50978; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Alternative splicing; Cell projection; Ciliopathy;
KW   Cilium; Complete proteome; Developmental protein; Disease mutation;
KW   Isopeptide bond; Methylation; Polymorphism; Reference proteome;
KW   Repeat; Retinitis pigmentosa; TPR repeat; Ubl conjugation; WD repeat.
FT   CHAIN         1   1749       Intraflagellar transport protein 172
FT                                homolog.
FT                                /FTId=PRO_0000328941.
FT   REPEAT       14     53       WD 1.
FT   REPEAT       64    103       WD 2.
FT   REPEAT      110    148       WD 3.
FT   REPEAT      150    191       WD 4.
FT   REPEAT      195    233       WD 5.
FT   REPEAT      238    278       WD 6.
FT   REPEAT      284    323       WD 7.
FT   REPEAT      483    520       WD 8.
FT   REPEAT      521    559       WD 9.
FT   REPEAT      593    624       TPR 1.
FT   REPEAT      692    725       TPR 2.
FT   REPEAT      809    842       TPR 3.
FT   REPEAT      854    887       TPR 4.
FT   REPEAT      912    945       TPR 5.
FT   REPEAT      947    970       TPR 6.
FT   REPEAT      971   1004       TPR 7.
FT   REPEAT     1042   1075       TPR 8.
FT   REPEAT     1142   1175       TPR 9.
FT   REPEAT     1276   1309       TPR 10.
FT   REPEAT     1345   1378       TPR 11.
FT   REPEAT     1411   1445       TPR 12.
FT   REPEAT     1447   1477       TPR 13.
FT   REPEAT     1574   1607       TPR 14.
FT   MOD_RES       1      1       N-acetylmethionine.
FT                                {ECO:0000269|PubMed:20388717}.
FT   MOD_RES     672    672       Omega-N-methylarginine.
FT                                {ECO:0000250|UniProtKB:Q6VH22}.
FT   CROSSLNK      4      4       Glycyl lysine isopeptide (Lys-Gly)
FT                                (interchain with G-Cter in SUMO1).
FT   VAR_SEQ     509    532       LHLYDIESCSKTMILNFCSYMQWV -> VRRATKALGIGWP
FT                                TEGVRQAATRD (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_054428.
FT   VAR_SEQ     533   1749       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_054429.
FT   VAR_SEQ    1514   1525       CENLVKSSEANS -> AVLSPSSSVKTW (in isoform
FT                                2). {ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_032848.
FT   VAR_SEQ    1526   1749       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_032849.
FT   VARIANT     257    257       L -> P (in RP71; represents a null
FT                                allele; dbSNP:rs786205857).
FT                                {ECO:0000269|PubMed:25168386}.
FT                                /FTId=VAR_073800.
FT   VARIANT     296    296       R -> W (in SRTD10; dbSNP:rs145541911).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070956.
FT   VARIANT     411    411       I -> N (in SRTD10; dbSNP:rs587777085).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070957.
FT   VARIANT     464    465       Missing (in SRTD10).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070958.
FT   VARIANT     953    953       R -> H (in dbSNP:rs704793).
FT                                /FTId=VAR_042581.
FT   VARIANT    1536   1536       L -> P (in SRTD10; dbSNP:rs587777080).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070959.
FT   VARIANT    1544   1544       R -> C (in SRTD10; dbSNP:rs587777079).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070960.
FT   VARIANT    1567   1567       H -> Q (in RP71; hypomorphic mutation;
FT                                dbSNP:rs786205855).
FT                                {ECO:0000269|PubMed:25168386}.
FT                                /FTId=VAR_073801.
FT   VARIANT    1605   1605       D -> E (in RP71; hypomorphic mutation;
FT                                dbSNP:rs786205856).
FT                                {ECO:0000269|PubMed:25168386}.
FT                                /FTId=VAR_073802.
FT   VARIANT    1727   1727       C -> R (in SRTD10; dbSNP:rs149614625).
FT                                {ECO:0000269|PubMed:24140113}.
FT                                /FTId=VAR_070961.
FT   CONFLICT   1475   1475       P -> L (in Ref. 4; CAB55914).
FT                                {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT        15     44       ipfam:WD40 [T]
FT   MYHIT       279    314       ismart:WD40 [T]
FT   MYHIT       225    267       ismart:WD40 [T]
FT   MYHIT       102    139       ismart:WD40 [T]
FT   MYHIT        55     94       ismart:WD40 [T]
FT   MYHIT       186    223       ismart:WD40 [T]
FT   MYHIT       141    180       ismart:WD40 [T]
FT   MYHIT         2     44       ismart:WD40 [T]
SQ   SEQUENCE   1749 AA;  197576 MW;  78AA83802D79E3CE CRC64;
     MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM
     KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW
     PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF
     FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE
     REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR
     LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV
     KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV
     EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG
     TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA
     QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG
     TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL
     HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR
     WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA
     KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK
     AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI
     YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL
     AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV
     GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART
     QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK
     TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA
     EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL
     QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE
     LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV
     AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK
     ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY
     HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV KQLETVAARL
     SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF LDLTDAIEEG TLDGLDHSDF
     QDTDIPFEVP LPAKQHVPEA EREEVRDWVL TVSMDQRLEQ VLPRDERGAY EASLVAASTG
     VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG
     LPSTSFSFQ
//