• Gene id: 388389

Gene Summary

• Gene Symbol: CCDC103   Gene   UCSC   Ensembl
• Aliases: CILD17, PR46b, SMH
• Gene name: coiled-coil domain containing 103
• Alternate names: coiled-coil domain-containing protein 103,
• Gene location: 17q21.31 (44899711: 44903678)     Exons: 4     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]
• OMIM: 614677

Protein Summary

• Protein general information: Q8IW40  
  • Name: Coiled coil domain containing protein 103
  • Length: 242  
  • Mass: 27,163
• Sequence:

  MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLERKDKMGGKRTVPWNC
  HTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERYQALLQLGGPRLGCLFQTDVGFGLLGELLVA
  LADHVGPADRAAVLGILCSLASTGRFTLNLSLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGLEEQSGGL
  QEEERLLQELLELYQVD

• Structural information:
  • Interpro: IPR031733  IPR025986  
  • STRING: ENSP00000387252
• Other Databases: GeneCards:  CCDC103  Malacards:  CCDC103

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001947	heart looping	IMP	biological process
GO:0003341	cilium movement	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0036158	outer dynein arm assembly	IGI	biological process
GO:0036159	inner dynein arm assembly	IGI	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0003341	cilium movement	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0036158	outer dynein arm assembly	IGI	biological process
GO:0036159	inner dynein arm assembly	IGI	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0003341	cilium movement	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0036158	outer dynein arm assembly	IGI	biological process
GO:0036159	inner dynein arm assembly	IGI	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG: H00564
Sperm motility	MIK: 25877373
Male factor infertility	MIK: 25877373
Cryptorchidism	MIK: 28606200
Sperm immotility	MIK: 25877373

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25877373	Sperm immotility	c.2540A > G, c.104G > C, c.3167A > T, c.828C > G, c.262_263delCC, c.3835-3delT, c.7895C > T and c.81 + 61A > G)			Male infertility	CCDC39  CCDC40  DNAH5  DNAI1  RSPH1  AKAP3 and AKAP4
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq