• Gene id: 25912

Gene Summary

• Gene Symbol: C1orf43   Gene   UCSC   Ensembl
• Aliases: HSPC012, NICE-3, NICE3, NS5ATP4, S863-3
• Gene name: chromosome 1 open reading frame 43
• Alternate names: protein C1orf43, HCV NS5A-transactivated protein 4, hepatitis C virus NS5A-transactivated protein 4, uncharacterized protein C1orf43,
• Gene location: 1q21.3 (154220796: 154206719)     Exons: 7     NC_000001.11
• OMIM: 608094

Protein Summary

• Protein general information: Q9BWL3  
  • Name: Protein C1orf43 (Hepatitis C virus NS5A transactivated protein 4) (HCV NS5A transactivated protein 4) (Protein NICE 3) (S863 3)
  • Length: 253  
  • Mass: 28779
• Sequence:

  MASGSNWLSGVNVVLVMAYGSLVFVLLFIFVKRQIMRFAMKSRRGPHVPVGHNAPKDLKEEIDIRLSRVQDIKYE
  PQLLADDDARLLQLETQGNQSCYNYLYRMKALDAIRTSEIPFHSEGRHPRSLMGKNFRSYLLDLRNTSTPFKGVR
  KALIDTLLDGYETARYGTGVFGQNEYLRYQEALSELATAVKARIGSSQRHHQSAAKDLTQSPEVSPTTIQVTYLP
  SSQKSKRAKHFLELKSFKDNYNTLESTL

• Structural information:
  • Interpro: IPR010876  
  • STRING: ENSP00000357507
• Other Databases: GeneCards:  C1orf43  Malacards:  C1orf43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006909	phagocytosis	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq