CC103_HUMAN
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 03-AUG-2022, entry version 133.
DE RecName: Full=Coiled-coil domain-containing protein 103;
GN Name=CCDC103;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., 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 the
RT 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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT CILD17 PRO-154, FUNCTION, SUBUNIT, AND CHARACTERIZATION OF VARIANT
RP CILD17 PRO-154.
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., Olbrich H.,
RA Werner C., Haffner K., Hellman N., Chodhari R., Gupta A., Kramer-Zucker A.,
RA Olale F., Burdine R.D., Schier A.F., O'Callaghan C., Chung E.M.,
RA Reinhardt R., Mitchison H.M., King S.M., Omran H., Drummond I.A.;
RT "CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly
RT 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., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT 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 Q8IW40; Q96H22-3: CENPN; NbExp=3; IntAct=EBI-10261970, EBI-19948078;
CC Q8IW40; Q4V328: GRIPAP1; NbExp=8; IntAct=EBI-10261970, EBI-717919;
CC Q8IW40; O14964: HGS; NbExp=4; IntAct=EBI-10261970, EBI-740220;
CC Q8IW40; P50221: MEOX1; NbExp=3; IntAct=EBI-10261970, EBI-2864512;
CC Q8IW40; P50222: MEOX2; NbExp=3; IntAct=EBI-10261970, EBI-748397;
CC Q8IW40; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10261970, EBI-16439278;
CC Q8IW40; P26367: PAX6; NbExp=3; IntAct=EBI-10261970, EBI-747278;
CC Q8IW40; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-10261970, EBI-79165;
CC Q8IW40; Q16512: PKN1; NbExp=3; IntAct=EBI-10261970, EBI-602382;
CC Q8IW40; Q9HDD0: PLAAT1; NbExp=3; IntAct=EBI-10261970, EBI-12387058;
CC Q8IW40; P0CW24: PNMA6A; NbExp=3; IntAct=EBI-10261970, EBI-721270;
CC Q8IW40; P31321: PRKAR1B; NbExp=5; IntAct=EBI-10261970, EBI-2805516;
CC Q8IW40; Q7Z5L2: R3HCC1L; NbExp=3; IntAct=EBI-10261970, EBI-10262006;
CC Q8IW40; Q96D15: RCN3; NbExp=3; IntAct=EBI-10261970, EBI-746283;
CC Q8IW40; Q9Y230: RUVBL2; NbExp=3; IntAct=EBI-10261970, EBI-352939;
CC Q8IW40; P51687: SUOX; NbExp=3; IntAct=EBI-10261970, EBI-3921347;
CC Q8IW40; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-10261970, EBI-739895;
CC Q8IW40; Q08AM6: VAC14; NbExp=8; IntAct=EBI-10261970, EBI-2107455;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, cilium,
CC 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 -!- DISEASE: Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia; reduced fertility
CC is often observed in male patients due to abnormalities of sperm tails.
CC Half of the patients exhibit randomization of left-right body asymmetry
CC and situs inversus, due to dysfunction of monocilia at the embryonic
CC node. Primary ciliary dyskinesia associated with situs inversus is
CC referred to as Kartagener syndrome. {ECO:0000269|PubMed:22581229,
CC ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants
CC 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 AlphaFoldDB; Q8IW40; -.
DR SMR; Q8IW40; -.
DR BioGRID; 132670; 34.
DR IntAct; Q8IW40; 34.
DR STRING; 9606.ENSP00000391692; -.
DR iPTMnet; Q8IW40; -.
DR PhosphoSitePlus; Q8IW40; -.
DR BioMuta; CCDC103; -.
DR DMDM; 74728126; -.
DR MassIVE; Q8IW40; -.
DR MaxQB; Q8IW40; -.
DR PaxDb; Q8IW40; -.
DR PeptideAtlas; Q8IW40; -.
DR PRIDE; Q8IW40; -.
DR ProteomicsDB; 70804; -. [Q8IW40-1]
DR ProteomicsDB; 7440; -.
DR Antibodypedia; 52477; 46 antibodies from 11 providers.
DR DNASU; 388389; -.
DR Ensembl; ENST00000410006.6; ENSP00000387252.1; ENSG00000167131.17. [Q8IW40-1]
DR Ensembl; ENST00000410027.5; ENSP00000386640.1; ENSG00000167131.17. [Q8IW40-2]
DR Ensembl; ENST00000417826.3; ENSP00000391692.2; ENSG00000167131.17. [Q8IW40-1]
DR GeneID; 388389; -.
DR KEGG; hsa:388389; -.
DR MANE-Select; ENST00000417826.3; ENSP00000391692.2; NM_213607.3; NP_998772.1.
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; ENSG00000167131; Group enriched (fallopian tube, testis).
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 VEuPathDB; HostDB:ENSG00000167131; -.
DR eggNOG; ENOG502RY3P; Eukaryota.
DR GeneTree; ENSGT00390000004038; -.
DR HOGENOM; CLU_2333051_0_0_1; -.
DR InParanoid; Q8IW40; -.
DR OMA; YRNWRRH; -.
DR OrthoDB; 1451158at2759; -.
DR PhylomeDB; Q8IW40; -.
DR TreeFam; TF324467; -.
DR PathwayCommons; Q8IW40; -.
DR SignaLink; Q8IW40; -.
DR BioGRID-ORCS; 388389; 9 hits in 1017 CRISPR screens.
DR ChiTaRS; CCDC103; human.
DR GenomeRNAi; 388389; -.
DR Pharos; Q8IW40; Tbio.
DR PRO; PR:Q8IW40; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IW40; protein.
DR Bgee; ENSG00000167131; Expressed in left testis and 95 other tissues.
DR ExpressionAtlas; Q8IW40; baseline.
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:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0036157; C:outer dynein arm; IEA:InterPro.
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:0007368; P:determination of left/right symmetry; IBA:GO_Central.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IC:BHF-UCL.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IBA:GO_Central.
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; IPR042422; CC103.
DR InterPro; IPR031733; Dynein_attach_N.
DR InterPro; IPR025986; RPAP3-like_C.
DR PANTHER; PTHR28572; PTHR28572; 1.
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; Cytoplasm; Disease variant;
KW Flagellum; Kartagener syndrome; Primary ciliary dyskinesia;
KW Reference proteome.
FT CHAIN 1..242
FT /note="Coiled-coil domain-containing protein 103"
FT /id="PRO_0000263636"
FT COILED 8..32
FT /evidence="ECO:0000255"
FT VAR_SEQ 93..98
FT /note="EKAPLQ -> NSWKSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046037"
FT VAR_SEQ 99..242
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046038"
FT VARIANT 154
FT /note="H -> P (in CILD17; unknown pathological
FT significance; hypomorphic variant; reduced cilia beat
FT amplitude in homozygous nasal respiratory cells; does not
FT fully rescue abnormal phenotype in a zebrafish animal
FT model; dbSNP:rs145457535)"
FT /evidence="ECO:0000269|PubMed:22581229"
FT /id="VAR_068449"
FT CONFLICT 62
FT /note="K -> E (in Ref. 1; BAF82449)"
FT /evidence="ECO:0000305"
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
