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CFH complement factor H [ Homo sapiens (human) ]

Gene ID: 3075, updated on 6-Sep-2021

Summary

Official Symbol
CFHprovided by HGNC
Official Full Name
complement factor Hprovided by HGNC
Primary source
HGNC:HGNC:4883
See related
Ensembl:ENSG00000000971 MIM:134370
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3
Summary
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 complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
Expression
Biased expression in liver (RPKM 390.3), gall bladder (RPKM 78.0) and 9 other tissues See more
Orthologs
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Genomic context

See CFH in Genome Data Viewer
Location:
1q31.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196652033..196747504)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196621173..196716634)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371674 Neighboring gene potassium sodium-activated channel subfamily T member 2 Neighboring gene microRNA 4735 Neighboring gene complement factor H related 3 Neighboring gene complement factor H related 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age-related macular degeneration 4
MedGen: C1853147 OMIM: 610698 GeneReviews: Not available
Compare labs
Atypical hemolytic-uremic syndrome 1 Compare labs
Basal laminar drusen
MedGen: C0730295 OMIM: 126700 GeneReviews: Not available
Compare labs
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Complement factor H polymorphism in age-related macular degeneration.
GeneReviews: Not available
Factor H deficiency
MedGen: C0398777 OMIM: 609814 GeneReviews: C3 Glomerulopathy
Compare labs
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
GeneReviews: Not available
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
GeneReviews: Not available
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
GeneReviews: Not available
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
GeneReviews: Not available
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
GeneReviews: Not available
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
GeneReviews: Not available
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
GeneReviews: Not available
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
GeneReviews: Not available
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Inhibition of DAF or use of factor H depleted sera significantly increases C3 deposition on recombinant HIV-1 gp120 coated CD4 cells PubMed
env Direct interaction of complement factor H with the C1 domain (amino acids 105-119) of HIV-1 gp120 is found in sera from AIDS patients PubMed
Envelope transmembrane glycoprotein gp41 env Four areas in HIV-1 gp41 (aa 561-585, 587-605, 615-635, 651-675) interact with human factor H PubMed
env Preincubation of HIV-1 gp41 with either factor H or properdin, and of HIV-1 gp120 with C3b or C4b affect the interaction between HIV-1 gp41 and gp120 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC88246

General protein information

Preferred Names
complement factor H
Names
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
NP_000177.2
NP_001014975.1
XP_016856597.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007259.1 RefSeqGene

    Range
    4868..100494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_47

mRNA and Protein(s)

  1. NM_000186.4NP_000177.2  complement factor H isoform a precursor

    See identical proteins and their annotated locations for NP_000177.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL049744, BC142699, BM842566, BP324193, Y00716
    Consensus CDS
    CCDS1385.1
    UniProtKB/Swiss-Prot
    P08603
    UniProtKB/TrEMBL
    A0A024R962
    Related
    ENSP00000356399.4, ENST00000367429.9
    Conserved Domains (4) summary
    cd00033
    Location:11091163
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:146205
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:811864
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001014975.3NP_001014975.1  complement factor H isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) utilizes an alternate terminal exon which results in an early stop codon. The resulting protein (isoform b, also known as the "factor H-like 1" or "FHL-1" isoform) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AL049744, BC073982, BM842566
    Consensus CDS
    CCDS53452.1
    UniProtKB/TrEMBL
    A0A0D9SG88
    Related
    ENSP00000487250.1, ENST00000630130.2
    Conserved Domains (4) summary
    cd00033
    Location:85142
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:146205
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:325384
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    196652033..196747504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001108.2XP_016856597.1  complement factor H isoform X1

RNA

  1. XR_001737134.2 RNA Sequence

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