ID CC103_HUMAN Reviewed; 242 AA.
AC Q8IW40; A8K145; B8ZZU0;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 15-MAR-2017, entry version 101.
DE RecName: Full=Coiled-coil domain-containing protein 103;
GN Name=CCDC103;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Teratocarcinoma;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Prostate;
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 VARIANT CILD17 PRO-154, FUNCTION, AND SUBUNIT.
RX PubMed=22581229; DOI=10.1038/ng.2277;
RA Panizzi J.R., Becker-Heck A., Castleman V.H., Al-Mutairi D.A., Liu Y.,
RA Loges N.T., Pathak N., Austin-Tse C., Sheridan E., Schmidts M.,
RA Olbrich H., Werner C., Haffner K., Hellman N., Chodhari R., Gupta A.,
RA Kramer-Zucker A., Olale F., Burdine R.D., Schier A.F., O'Callaghan C.,
RA Chung E.M., Reinhardt R., Mitchison H.M., King S.M., Omran H.,
RA Drummond I.A.;
RT "CCDC103 mutations cause primary ciliary dyskinesia by disrupting
RT assembly of ciliary dynein arms.";
RL Nat. Genet. 44:714-719(2012).
RN [5]
RP INVOLVEMENT IN CILD17.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P.,
RA Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H.,
RA Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary
RT ciliary dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
CC -!- FUNCTION: Dynein-attachment factor required for cilia motility.
CC {ECO:0000269|PubMed:22581229}.
CC -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:22581229}.
CC -!- INTERACTION:
CC Q4V328:GRIPAP1; NbExp=4; IntAct=EBI-10261970, EBI-717919;
CC O14964:HGS; NbExp=3; IntAct=EBI-10261970, EBI-740220;
CC A4D127:MEOX2; NbExp=5; IntAct=EBI-10261970, EBI-10172134;
CC Q7Z5L2:R3HCC1L; NbExp=3; IntAct=EBI-10261970, EBI-10262006;
CC Q9Y230:RUVBL2; NbExp=3; IntAct=EBI-10261970, EBI-352939;
CC Q08AM6:VAC14; NbExp=5; IntAct=EBI-10261970, EBI-2107455;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection,
CC cilium, flagellum {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IW40-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IW40-2; Sequence=VSP_046037, VSP_046038;
CC Note=No experimental confirmation available.;
CC -!- DISEASE: Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: A
CC disorder characterized by abnormalities of motile cilia.
CC Respiratory infections leading to chronic inflammation and
CC bronchiectasis are recurrent, due to defects in the respiratory
CC cilia; reduced fertility is often observed in male patients due to
CC abnormalities of sperm tails. Half of the patients exhibit
CC randomization of left-right body asymmetry and situs inversus, due
CC to dysfunction of monocilia at the embryonic node. Primary ciliary
CC dyskinesia associated with situs inversus is referred to as
CC Kartagener syndrome. {ECO:0000269|PubMed:22581229,
CC ECO:0000269|PubMed:25186273}. Note=The disease is caused by
CC mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the CCDC103/PR46b family. {ECO:0000305}.
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DR EMBL; AK289760; BAF82449.1; -; mRNA.
DR EMBL; DA749894; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC015936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC041060; AAH41060.1; -; mRNA.
DR CCDS; CCDS11490.1; -. [Q8IW40-1]
DR CCDS; CCDS58554.1; -. [Q8IW40-2]
DR RefSeq; NP_001245324.1; NM_001258395.1. [Q8IW40-1]
DR RefSeq; NP_001245325.1; NM_001258396.1. [Q8IW40-1]
DR RefSeq; NP_001245326.1; NM_001258397.1. [Q8IW40-2]
DR RefSeq; NP_998772.1; NM_213607.2. [Q8IW40-1]
DR UniGene; Hs.743398; -.
DR ProteinModelPortal; Q8IW40; -.
DR BioGrid; 132670; 20.
DR IntAct; Q8IW40; 14.
DR STRING; 9606.ENSP00000387252; -.
DR iPTMnet; Q8IW40; -.
DR PhosphoSitePlus; Q8IW40; -.
DR BioMuta; CCDC103; -.
DR DMDM; 74728126; -.
DR MaxQB; Q8IW40; -.
DR PaxDb; Q8IW40; -.
DR PeptideAtlas; Q8IW40; -.
DR PRIDE; Q8IW40; -.
DR DNASU; 388389; -.
DR Ensembl; ENST00000410006; ENSP00000387252; ENSG00000167131. [Q8IW40-1]
DR Ensembl; ENST00000410027; ENSP00000386640; ENSG00000167131. [Q8IW40-2]
DR Ensembl; ENST00000417826; ENSP00000391692; ENSG00000167131. [Q8IW40-1]
DR GeneID; 388389; -.
DR KEGG; hsa:388389; -.
DR UCSC; uc002iho.4; human. [Q8IW40-1]
DR CTD; 388389; -.
DR DisGeNET; 388389; -.
DR GeneCards; CCDC103; -.
DR GeneReviews; CCDC103; -.
DR HGNC; HGNC:32700; CCDC103.
DR HPA; HPA043131; -.
DR MalaCards; CCDC103; -.
DR MIM; 614677; gene.
DR MIM; 614679; phenotype.
DR neXtProt; NX_Q8IW40; -.
DR OpenTargets; ENSG00000167131; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA145008596; -.
DR eggNOG; ENOG410INY9; Eukaryota.
DR eggNOG; ENOG4111QAN; LUCA.
DR GeneTree; ENSGT00390000004038; -.
DR HOGENOM; HOG000090000; -.
DR HOVERGEN; HBG080287; -.
DR InParanoid; Q8IW40; -.
DR OMA; EQRVASY; -.
DR OrthoDB; EOG091G123B; -.
DR PhylomeDB; Q8IW40; -.
DR TreeFam; TF324467; -.
DR ChiTaRS; CCDC103; human.
DR GenomeRNAi; 388389; -.
DR PRO; PR:Q8IW40; -.
DR Proteomes; UP000005640; Chromosome 17.
DR CleanEx; HS_CCDC103; -.
DR ExpressionAtlas; Q8IW40; baseline and differential.
DR Genevisible; Q8IW40; HS.
DR GO; GO:0005930; C:axoneme; ISS:BHF-UCL.
DR GO; GO:0005737; C:cytoplasm; ISS:BHF-UCL.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:BHF-UCL.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:BHF-UCL.
DR GO; GO:0003341; P:cilium movement; IGI:BHF-UCL.
DR GO; GO:0071907; P:determination of digestive tract left/right asymmetry; IMP:BHF-UCL.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IC:BHF-UCL.
DR GO; GO:0001947; P:heart looping; IMP:BHF-UCL.
DR GO; GO:0036159; P:inner dynein arm assembly; IGI:BHF-UCL.
DR GO; GO:0036158; P:outer dynein arm assembly; IGI:BHF-UCL.
DR InterPro; IPR031733; Dynein_attach_N.
DR InterPro; IPR025986; RPAP3-like_C.
DR Pfam; PF15867; Dynein_attach_N; 1.
DR Pfam; PF13877; RPAP3_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Complete proteome;
KW Cytoplasm; Disease mutation; Flagellum; Kartagener syndrome;
KW Primary ciliary dyskinesia; Reference proteome.
FT CHAIN 1 242 Coiled-coil domain-containing protein
FT 103.
FT /FTId=PRO_0000263636.
FT COILED 8 32 {ECO:0000255}.
FT VAR_SEQ 93 98 EKAPLQ -> NSWKSS (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_046037.
FT VAR_SEQ 99 242 Missing (in isoform 2).
FT {ECO:0000303|PubMed:14702039}.
FT /FTId=VSP_046038.
FT VARIANT 154 154 H -> P (in CILD17; dbSNP:rs145457535).
FT {ECO:0000269|PubMed:22581229}.
FT /FTId=VAR_068449.
FT CONFLICT 62 62 K -> E (in Ref. 1; BAF82449).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 7 74 ipfam:Dynein_attach_N [T]
FT MYHIT 98 188 ipfam:RPAP3_C [T]
SQ SEQUENCE 242 AA; 27163 MW; 82738F07296FEDC9 CRC64;
MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI VLASHLKPLE
RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE TSADFYRDWR RHLPSGPERY
QALLQLGGPR LGCLFQTDVG FGLLGELLVA LADHVGPADR AAVLGILCSL ASTGRFTLNL
SLLSRAERES CKGLFQKLQA MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ
VD
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