• Gene id: 3075

Gene Summary

• Gene Symbol: CFH   Gene   UCSC   Ensembl
• Aliases: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
• Gene name: complement factor H
• Alternate names: complement factor H, H factor 1 (complement), H factor 2 (complement), adrenomedullin binding protein, age-related maculopathy susceptibility 1, beta-1-H-globulin, beta-1H, factor H, factor H-like 1,
• Gene location: 1q31.3 (4143029: 4004444)     Exons: 55     NC_000017.11
• Gene summary(Entrez): This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complem
• OMIM: 134370

Protein Summary

• Protein general information: P08603  
  • Name: Complement factor H (H factor 1)
  • Length: 1231  
  • Mass: 139096
  • Tissue specificity: Expressed in the retinal pigment epithelium (at protein level) (PubMed
• Sequence:

  MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEGTQAIYKCRPGYRSLGNVIMVCRKGEWVALN
  PLRKCQKRPCGHPGDTPFGTFTLTGGNVFEYGVKAVYTCNEGYQLLGEINYRECDTDGWTNDIPICEVVKCLPVT
  APENGKIVSSAMEPDREYHFGQAVRFVCNSGYKIEGDEEMHCSDDGFWSKEKPKCVEISCKSPDVINGSPISQKI
  IYKENERFQYKCNMGYEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPLRIKHRTGDEITYQCRNGFYP
  ATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDHIHCT
  QDGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGKSIDVACHPGYALPKAQTTVTCMENGWSPTPRCIRVKTCSK
  SSIDIENGFISESQYTYALKEKAKYQCKLGYVTADGETSGSITCGKDGWSAQPTCIKSCDIPVFMNARTKNDFTW
  FKLNDTLDYECHDGYESNTGSTTGSIVCGYNGWSDLPICYERECELPKIDVHLVPDRKKDQYKVGEVLKFSCKPG
  FTIVGPNSVQCYHFGLSPDLPICKEQVQSCGPPPELLNGNVKEKTKEEYGHSEVVEYYCNPRFLMKGPNKIQCVD
  GEWTTLPVCIVEESTCGDIPELEHGWAQLSSPPYYYGDSVEFNCSESFTMIGHRSITCIHGVWTQLPQCVAIDKL
  KKCKSSNLIILEEHLKNKKEFDHNSNIRYRCRGKEGWIHTVCINGRWDPEVNCSMAQIQLCPPPPQIPNSHNMTT
  TLNYRDGEKVSVLCQENYLIQEGEEITCKDGRWQSIPLCVEKIPCSQPPQIEHGTINSSRSSQESYAHGTKLSYT
  CEGGFRISEENETTCYMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVTYKCFEGFGIDGPAIAKCLG
  EKWSHPPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYTCATYYKMDGASNVTCINSRWTGRPTCRDTSCVN
  PPTVQNAYIVSRQMSKYPSGERVRYQCRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPL
  SVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYSRTGESVEFV
  CKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR

• Structural information:
  • Protein Domains: (19..8-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (83..14-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (144..20-)
    (/note="Sushi-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (-)
  • Interpro: IPR035976  IPR000436  
  • Prosite: PS50923
  • CDD: cd00033
  • PDB: 1FHC 1HAQ 1HCC 1HFH 1HFI 1KOV 2BZM 2G7I 2IC4 2JGW 2JGX 2KMS 2QFG 2QFH 2RLP 2RLQ 2UWN 2V8E 2W80 2W81 2WII 2XQW 3GAU 3GAV 3GAW 3KXV 3KZJ 3OXU 3R62 3RJ3 3SW0 4AYD 4AYE 4AYI 4AYM 4B2R 4B2S 4J38 4K12 4ONT 4ZH1 5NBQ 5O32 5O35 5WTB 6ATG
  • PDBsum: 1FHC 1HAQ 1HCC 1HFH 1HFI 1KOV 2BZM 2G7I 2IC4 2JGW 2JGX 2KMS 2QFG 2QFH 2RLP 2RLQ 2UWN 2V8E 2W80 2W81 2WII 2XQW 3GAU 3GAV 3GAW 3KXV 3KZJ 3OXU 3R62 3RJ3 3SW0 4AYD 4AYE 4AYI 4AYM 4B2R 4B2S 4J38 4K12 4ONT 4ZH1 5NBQ 5O32 5O35 5WTB 6ATG
  • DIP: 38303
  • STRING: ENSP00000356399
• Other Databases: GeneCards:  CFH  Malacards:  CFH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0030449	regulation of complement activation	IDA	biological process
GO:1903659	regulation of complement-dependent cytotoxicity	IDA	biological process
GO:0006956	complement activation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
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: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:0008201	heparin binding	IDA	molecular function
GO:0043395	heparan sulfate proteoglycan binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Familial flecked retina syndrome	KEGG:H00825
Membranoproliferative glomerulonephritis	KEGG:H01726
Basal laminar drusen	KEGG:H02108
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Familial flecked retina syndrome	KEGG:H00825
Membranoproliferative glomerulonephritis	KEGG:H01726
Basal laminar drusen	KEGG:H02108
Lupus nephritis	PMID:22171659
Atypical hemolytic-uremic syndrome	PMID:9811382
Atypical hemolytic-uremic syndrome	PMID:23243267
Atypical hemolytic-uremic syndrome	PMID:17517971
Atypical hemolytic-uremic syndrome	PMID:17517971
Atypical hemolytic-uremic syndrome	PMID:20513133
Atypical hemolytic-uremic syndrome	PMID:10577907
Sarcoidosis	PMID:23497844
Hemolytic-uremic syndrome	PMID:14583443
cardiovascular system disease	PMID:23296223
Glaucoma	PMID:20484586
Squamous cell carcinoma	PMID:23938460
Retinal drusen	PMID:22491393
Brain infarction	PMID:21695352
macular degeneration	PMID:23362846
Retinal detachment	PMID:18515590
Psoriasis	PMID:2973157
Diabetic retinopathy	PMID:23864767
Diabetic retinopathy	PMID:23296223
Systemic lupus erythematosus	PMID:21637784
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq