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CFH complement factor H [ Homo sapiens (human) ]

Gene ID: 3075, updated on 1-Mar-2024

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; AllianceGenome:HGNC:4883
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:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196652043..196747504)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (195998386..196093925)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196621173..196716634)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium sodium-activated channel subfamily T member 2 Neighboring gene LINE-1 retrotransposable element ORF2 protein-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:196342862-196343398 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:196577905-196578421 Neighboring gene microRNA 4735 Neighboring gene MPRA-validated peak637 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2274 Neighboring gene MPRA-validated peak638 silencer 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

EBI GWAS Catalog

Description
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
EBI GWAS Catalog
Complement factor H polymorphism in age-related macular degeneration.
EBI GWAS Catalog
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
EBI GWAS Catalog
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
EBI GWAS Catalog
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
EBI GWAS Catalog
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
EBI GWAS Catalog
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
EBI GWAS Catalog
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
EBI GWAS Catalog
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
EBI GWAS Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
EBI GWAS Catalog
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
EBI GWAS Catalog
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
EBI GWAS Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
EBI GWAS Catalog
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS Catalog

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

Potential readthrough

Included gene: CFHR3

Clone Names

  • MGC88246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables complement component C3b binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables heparan sulfate proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    A5PL14, P08603, P78435, Q14570, Q2TAZ5, Q38G77, Q5TFM3, Q8N708, Q9NU86
    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, A0A8Q3WM71
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    196652043..196747504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791754.1 Reference GRCh38.p14 PATCHES

    Range
    501706..597238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    195998386..196093925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)