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CFH complement factor H [ Homo sapiens (human) ]

Gene ID: 3075, updated on 15-Sep-2014
Official Symbol
CFHprovided by HGNC
Official Full Name
complement factor Hprovided by HGNC
Primary source
HGNC:HGNC:4883
Locus tag
RP1-177P10.1
See related
Ensembl:ENSG00000000971; HPRD:00601; MIM:134370; Vega:OTTHUMG00000035607
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]
Location:
1q32
Exon count:
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (196651878..196747504)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196621008..196716634)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 14 Neighboring gene potassium channel, subfamily T, member 2 Neighboring gene microRNA 4735 Neighboring gene complement factor H-related 3 Neighboring gene complement factor H-related 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
  • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
    Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Staphylococcus aureus infection, conserved biosystem (from KEGG)
    Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC88246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan sulfate proteoglycan binding IDA
Inferred from Direct Assay
more info
 
heparin binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
PubMed 
complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
complement factor H
Names
complement factor H
beta-1H
factor H
factor H-like 1
beta-1-H-globulin
H factor 1 (complement)
H factor 2 (complement)
adrenomedullin binding protein
complement factor H, isoform b
age-related maculopathy susceptibility 1
NP_000177.2
NP_001014975.1

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 

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

mRNA and Protein(s)

  1. NM_000186.3NP_000177.2  complement factor H isoform a precursor

    See proteins identical to 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/TrEMBL
    A0A024R962
    UniProtKB/Swiss-Prot
    P08603
    Related
    ENSP00000356399, OTTHUMP00000033598, ENST00000367429, OTTHUMT00000086412
    Conserved Domains (3) summary
    cd00033
    Location:146206
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:2176
    Sushi; Sushi domain (SCR repeat)
  2. NM_001014975.2NP_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
    UniProtKB/TrEMBL
    F8WDX4
    Conserved Domains (2) summary
    cd00033
    Location:146206
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    196651878..196747504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711282.1XP_006711345.1  

    Conserved Domains (3) summary
    cd00033
    Location:146206
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:2176
    Sushi; Sushi domain (SCR repeat)
  2. XM_006711283.1XP_006711346.1  

    Conserved Domains (2) summary
    cd00033
    Location:146206
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:10262
    PHA02927; secreted complement-binding protein; Provisional

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    167862965..167958566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    198042727..198138292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)