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   24-JAN-2024, entry version 138.
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; 9606-ENSP00000391692; -.
DR   PeptideAtlas; 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   AGR; HGNC:32700; -.
DR   CTD; 388389; -.
DR   DisGeNET; 388389; -.
DR   GeneCards; CCDC103; -.
DR   GeneReviews; CCDC103; -.
DR   HGNC; HGNC:32700; CCDC103.
DR   HPA; ENSG00000167131; Tissue enhanced (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; 3027031at2759; -.
DR   PhylomeDB; Q8IW40; -.
DR   TreeFam; TF324467; -.
DR   PathwayCommons; Q8IW40; -.
DR   SignaLink; Q8IW40; -.
DR   BioGRID-ORCS; 388389; 10 hits in 1071 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 male germ line stem cell (sensu Vertebrata) in testis and 97 other cell types or tissues.
DR   ExpressionAtlas; Q8IW40; baseline and differential.
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; COILED-COIL DOMAIN-CONTAINING PROTEIN 103; 1.
DR   PANTHER; PTHR28572:SF1; COILED-COIL DOMAIN-CONTAINING PROTEIN 103; 1.
DR   Pfam; PF15867; Dynein_attach_N; 1.
DR   Pfam; PF13877; RPAP3_C; 1.
DR   Genevisible; Q8IW40; HS.
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; uncertain significance;
FT                   hypomorphic variant; reduced cilia beat amplitude in
FT                   homozygous nasal respiratory cells; does not fully rescue
FT                   abnormal phenotype in a zebrafish animal model;
FT                   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
//