• Gene id: 54535

Gene Summary

• Gene Symbol: CCHCR1   Gene   UCSC   Ensembl
• Aliases: C6orf18, HCR, SBP, pg8
• Gene name: coiled-coil alpha-helical rod protein 1
• Alternate names: coiled-coil alpha-helical rod protein 1, HCR (a-helix coiled-coil rod homologue), StAR-binding protein, alpha-helical coiled-coil rod protein, putative gene 8 protein,
• Gene location: 6p21.33 (31158230: 31142438)     Exons: 20     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-te
• OMIM: 605310

Protein Summary

• Protein general information: Q8TD31  
  • Name: Coiled coil alpha helical rod protein 1 (Alpha helical coiled coil rod protein) (Putative gene 8 protein) (Pg8)
  • Length: 782  
  • Mass: 88671
  • Tissue specificity: Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.
• Sequence:

  MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPPGHQDVSERRLDTQRPQVTMWERDVSSDRQEPGRR
  GRSWGLEGSQALSQQAEVIVRQLQELRRLEEEVRLLRETSLQQKMRLEAQAMELEALARAEKAGRAEAEGLRAAL
  AGAEVVRKNLEEGSQRELEEVQRLHQEQLSSLTQAHEEALSSLTSKAEGLEKSLSSLETRRAGEAKELAEAQREA
  ELLRKQLSKTQEDLEAQVTLVENLRKYVGEQVPSEVHSQTWELERQKLLETMQHLQEDRDSLHATAELLQVRVQS
  LTHILALQEEELTRKVQPSDSLEPEFTRKCQSLLNRWREKVFALMVQLKAQELEHSDSVKQLKGQVASLQEKVTS
  QSQEQAILQRSLQDKAAEVEVERMGAKGLQLELSRAQEARRRWQQQTASAEEQLRLVVNAVSSSQIWLETTMAKV
  EGAAAQLPSLNNRLSYAVRKVHTIRGLIARKLALAQLRQESCPLPPPVTDVSLELQQLREERNRLDAELQLSARL
  IQQEVGRAREQGEAERQQLSKVAQQLEQELQQTQESLASLGLQLEVARQGQQESTEEAASLRQELTQQQELYGQA
  LQEKVAEVETRLREQLSDTERRLNEARREHAKAVVSLRQIQRRAAQEKERSQELRRLQEEARKEEGQRLARRLQE
  LERDKNLMLATLQQEGLLSRYKQQRLLTVLPSLLDKKKSVVSSPRPPECSASAPVAAAVPTRESIKGSLSVLLDD
  LQDLSEAISKEEAVCQGDNLDRCSSSNPQMSS

• Structural information:
  • Interpro: IPR009800  
  • DIP: 40394
  • STRING: ENSP00000379566
• Other Databases: GeneCards:  CCHCR1  Malacards:  CCHCR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006611	protein export from nucleus	IBA	biological process
GO:0005814	centriole	IBA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006611	protein export from nucleus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray