• Gene id: 81494

Gene Summary

• Gene Symbol: CFHR5   Gene   UCSC   Ensembl
• Aliases: CFHL5, CFHR5D, FHR-5, FHR5
• Gene name: complement factor H related 5
• Alternate names: complement factor H-related protein 5, factor H-related protein 5,
• Gene location: 1q31.3 (196975021: 197009724)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has

Protein Summary

• Protein general information: Q9BXR6  
  • Name: Complement factor H related protein 5 (FHR 5)
  • Length: 569  
  • Mass: 64419
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MLLLFSVILISWVSTVGGEGTLCDFPKIHHGFLYDEEDYNPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCTEE
  GWSPTPKCLRMCSFPFVKNGHSESSGLIHLEGDTVQIICNTGYSLQNNEKNISCVERGWSTPPICSFTKGECHVP
  ILEANVDAQPKKESYKVGDVLKFSCRKNLIRVGSDSVQCYQFGWSPNFPTCKGQVRSCGPPPQLSNGEVKEIRKE
  EYGHNEVVEYDCNPNFIINGPKKIQCVDGEWTTLPTCVEQVKTCGYIPELEYGYVQPSVPPYQHGVSVEVNCRNE
  YAMIGNNMITCINGIWTELPMCVATHQLKRCKIAGVNIKTLLKLSGKEFNHNSRIRYRCSDIFRYRHSVCINGKW
  NPEVDCTEKREQFCPPPPQIPNAQNMTTTVNYQDGEKVAVLCKENYLLPEAKEIVCKDGRWQSLPRCVESTAYCG
  PPPSINNGDTTSFPLSVYPPGSTVTYRCQSFYKLQGSVTVTCRNKQWSEPPRCLDPCVVSEENMNKNNIQLKWRN
  DGKLYAKTGDAVEFQCKFPHKAMISSPPFRAICQEGKFEYPICE

• Structural information:
  • Protein Domains: (23..8-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (85..14-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (145..20-)
    (/note="Sushi-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (-)
  • Interpro: IPR035976  IPR000436  
  • Prosite: PS50923
  • CDD: cd00033
  • STRING: ENSP00000256785
• Other Databases: GeneCards:  CFHR5  Malacards:  CFHR5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
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: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: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: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: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:0005576	extracellular region	IEA	cellular component
GO:0032091	negative regulation of protein binding	IDA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0006957	complement activation, alternative pathway	NAS	biological process
GO:0051838	cytolysis by host of symbiont cells	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Membranoproliferative glomerulonephritis	KEGG:H01726
Membranoproliferative glomerulonephritis	KEGG:H01726
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq