• Gene id: 51244

Gene Summary

• Gene Symbol: CCDC174   Gene   UCSC   Ensembl
• Aliases: C3orf19, HSPC212, IHPM, IHPMR
• Gene name: coiled-coil domain containing 174
• Alternate names: coiled-coil domain-containing protein 174,
• Gene location: 3p25.1 (14651745: 14672658)     Exons: 11     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translati
• OMIM: 600681

Protein Summary

• Protein general information: Q6PII3  
  • Name: Coiled coil domain containing protein 174
  • Length: 467  
  • Mass: 53958
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKPKTTNKKPSIWSKQNVGVSNRAEKDAEQKIEE
  QKTLDKAREKLEEKAKLYEKMTKGDFIDEEVEDMYLVDFTQKIIDKRKEMEASGAHRDSQKAGERDDDEENLPEG
  EIPPPQDPSEEWVDYVDSLGRSRRCMRKDLPDLLEMDKNLQGRLFISPANEKTLLSEDMRKELQRQQWEEEEREA
  LKRPMGPVHYEDIRENEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTDQRTKRENIKEKRKAILEARLAKLR
  QKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPTPRPAAQSSKVEVIVQERKDTKPGVPHIREWDRGKEFSFGYW
  SKRQSDLRAERDPEFAPPSDYFVGQKRTGFSSSQAWSRPGPAQSDPGQCPDQSHGPSPEHTSPTPAPDNPPQAPT
  VTFKTLDDMISYYKQVT

• Structural information:
  • Interpro: IPR025066  
  • STRING: ENSP00000373304
• Other Databases: GeneCards:  CCDC174  Malacards:  CCDC174

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray