ID   CC103_DANRE             Reviewed;         247 AA.
AC   Q6DGB6;
DT   12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT   16-AUG-2004, sequence version 1.
DT   03-AUG-2022, entry version 86.
DE   RecName: Full=Coiled-coil domain-containing protein 103;
DE   AltName: Full=Protein schmalhans;
GN   Name=ccdc103; Synonyms=smh; ORFNames=zgc:100838;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Embryo;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, TISSUE
RP   SPECIFICITY, AND INDUCTION.
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).
CC   -!- FUNCTION: Dynein-attachment factor required for cilia motility.
CC       {ECO:0000269|PubMed:22581229}.
CC   -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:22581229}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22581229}. Cell
CC       projection, cilium, flagellum {ECO:0000269|PubMed:22581229}.
CC   -!- TISSUE SPECIFICITY: Expressed in all cells bearing motile cilia.
CC       {ECO:0000269|PubMed:22581229}.
CC   -!- INDUCTION: Expression is regulated by foxj1.
CC       {ECO:0000269|PubMed:22581229}.
CC   -!- DISRUPTION PHENOTYPE: Defects in ccdc103 are the cause of the
CC       schmalhans phenotype and show a curved body axis, randomized left-right
CC       asymmetry and pronephric kidney cysts, which are characteristic
CC       features of ciliopathies. Cilia completely lack both inner dynein arms
CC       (IDAs) and outer dynein arms (ODAs) while cilia length in these mutants
CC       is not altered. {ECO:0000269|PubMed:22581229}.
CC   -!- SIMILARITY: Belongs to the CCDC103/PR46b family. {ECO:0000305}.
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DR   EMBL; BC076434; AAH76434.1; -; mRNA.
DR   RefSeq; NP_001002753.1; NM_001002753.3.
DR   AlphaFoldDB; Q6DGB6; -.
DR   SMR; Q6DGB6; -.
DR   STRING; 7955.ENSDARP00000069975; -.
DR   PaxDb; Q6DGB6; -.
DR   DNASU; 437026; -.
DR   Ensembl; ENSDART00000075493; ENSDARP00000069975; ENSDARG00000053455.
DR   GeneID; 437026; -.
DR   KEGG; dre:437026; -.
DR   CTD; 388389; -.
DR   ZFIN; ZDB-GENE-040718-253; ccdc103.
DR   eggNOG; ENOG502RY3P; Eukaryota.
DR   GeneTree; ENSGT00390000004038; -.
DR   HOGENOM; CLU_085512_0_0_1; -.
DR   InParanoid; Q6DGB6; -.
DR   OMA; YRNWRRH; -.
DR   OrthoDB; 1451158at2759; -.
DR   PhylomeDB; Q6DGB6; -.
DR   TreeFam; TF324467; -.
DR   PRO; PR:Q6DGB6; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 3.
DR   Bgee; ENSDARG00000053455; Expressed in testis and 19 other tissues.
DR   GO; GO:0005930; C:axoneme; IDA:BHF-UCL.
DR   GO; GO:0005737; C:cytoplasm; IDA: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:0070286; P:axonemal dynein complex assembly; IMP:ZFIN.
DR   GO; GO:0090660; P:cerebrospinal fluid circulation; IMP:ZFIN.
DR   GO; GO:0003341; P:cilium movement; IMP:ZFIN.
DR   GO; GO:0007368; P:determination of left/right symmetry; IMP:ZFIN.
DR   GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:ZFIN.
DR   GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:ZFIN.
DR   GO; GO:0003146; P:heart jogging; IMP:ZFIN.
DR   GO; GO:0001947; P:heart looping; IMP:ZFIN.
DR   GO; GO:0036159; P:inner dynein arm assembly; IBA:GO_Central.
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   Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
KW   Cytoplasm; Flagellum; Reference proteome.
FT   CHAIN           1..247
FT                   /note="Coiled-coil domain-containing protein 103"
FT                   /id="PRO_0000263638"
FT   COILED          12..32
FT                   /evidence="ECO:0000255"
SQ   SEQUENCE   247 AA;  27594 MW;  C072F56EE701CF82 CRC64;
     MENSDVINFS CLEKELHSAL QADRKYQREN DAKFRALNQK VASYEEFRDI VLASHLKPLD
     RNDISGSPRK QPWNPVACRT NYVCASSEQV QPQLSEVQPR SASEFIRDWR RFAGCSFEKY
     SLLVSLGGEA LQKIFSTEIG LGLLGEFLLI LSQCLKSGDE DRVTGVLDGL SKTGRFSINL
     SLLSQAEQEA CEELFNKLKV AAGECHPYKD NSNTSVVCEA GLTHMEDNKT DITTTLKELA
     GKYGTEK