• Gene id: 3078

Gene Summary

• Gene Symbol: CFHR1   Gene   UCSC   Ensembl
• Aliases: CFHL, CFHL1, CFHL1P, CFHR1P, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
• Gene name: complement factor H related 1
• Alternate names: complement factor H-related protein 1, H factor (complement)-like 1, H factor (complement)-like 2, H-factor-like 1, complement factor H-related 1 pseudogene, h factor-like protein 1,
• Gene location: 1q31.3 (30334075: 30316328)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence f
• OMIM: 134371

Protein Summary

• Protein general information: Q03591  
  • Name: Complement factor H related protein 1 (FHR 1) (H factor like protein 1) (H factor like 1) (H36)
  • Length: 330  
  • Mass: 37651
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCTEE
  GWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTDTSCVNP
  PTVQNAHILSRQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLS
  VYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYLRTGESAEFVC
  KRGYRLSSRSHTLRTTCWDGKLEYPTCAKR

• Structural information:
  • Protein Domains: (22..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
  • PDB: 3ZD2 4MUC
  • PDBsum: 3ZD2 4MUC
  • STRING: ENSP00000314299
• Other Databases: GeneCards:  CFHR1  Malacards:  CFHR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0032991	protein-containing complex	IDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
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:0032091	negative regulation of protein binding	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Atypical hemolytic-uremic syndrome	PMID:23243267
acute myeloid leukemia	PMID:26317246
multiple myeloma	PMID:22348216
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R