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Cfh complement component factor h [ Mus musculus (house mouse) ]

Gene ID: 12628, updated on 8-Dec-2022

Summary

Official Symbol
Cfhprovided by MGI
Official Full Name
complement component factor hprovided by MGI
Primary source
MGI:MGI:88385
See related
Ensembl:ENSMUSG00000026365 AllianceGenome:MGI:88385
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NOM; Sas1; Mud-1; Sas-1
Summary
Enables complement component C3b binding activity and heparin binding activity. Acts upstream of or within several processes, including animal organ development; complement activation; and vasculature development. Located in several cellular components, including axon; external side of plasma membrane; and neuronal cell body. Is expressed in several structures, including adrenal gland; bone; central nervous system; humerus cartilage condensation; and metanephros. Used to study age related macular degeneration 4; atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; and membranoproliferative glomerulonephritis. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to several human genes including CFH (complement factor H). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E18 (RPKM 75.9), liver adult (RPKM 32.7) and 10 other tissues See more
Orthologs
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Genomic context

See Cfh in Genome Data Viewer
Location:
1 61.62 cM; 1 F
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (140013593..140111149, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (140085855..140183411, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 16332 Neighboring gene RuvB-like protein 1 pseudogene Neighboring gene predicted gene, 26048 Neighboring gene potassium channel, subfamily T, member 2 Neighboring gene RIKEN cDNA 4930590L20 gene Neighboring gene glutathione S-transferase, mu 4 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables complement component C3b binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables complement component C3b binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables heparan sulfate proteoglycan binding ISO
Inferred from Sequence Orthology
more info
 
enables heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables heparin binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within activation of membrane attack complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cartilage development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to lipopolysaccharide IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in complement activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within complement activation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within complement activation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within complement activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in complement activation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within complement activation, alternative pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within_negative_effect complement activation, alternative pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within complement activation, alternative pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within determination of adult lifespan IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glomerulus development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within glomerulus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immune complex clearance IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within immunoglobulin mediated immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within inflammatory response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inflammatory response to wounding IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within kidney development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrial DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrial gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within monocyte aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neutrophil homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within organ or tissue specific immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within organelle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within photoreceptor cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of complement activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of complement activation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in regulation of complement activation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of complement activation, alternative pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of complement-dependent cytotoxicity ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within response to dietary excess IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within_positive_effect retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal pigment epithelium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal rod cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
part_of serine-type endopeptidase complex ISO
Inferred from Sequence Orthology
more info
 
located_in symbiont cell surface ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
complement factor H
Names
complement factor H related protein 3A4/5G4
protein beta-1-H
NP_034018.2

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.

mRNA and Protein(s)

  1. NM_009888.3NP_034018.2  complement factor H precursor

    Status: VALIDATED

    Source sequence(s)
    BB661130, BC066092
    Consensus CDS
    CCDS48388.1
    UniProtKB/Swiss-Prot
    P06909
    UniProtKB/TrEMBL
    E9Q8I0
    Related
    ENSMUSP00000107607.3, ENSMUST00000111976.9
    Conserved Domains (5) summary
    cd00033
    Location:164224
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02817
    Location:720821
    PHA02817; EEV Host range protein; Provisional
    smart00032
    Location:287338
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:19280
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:587640
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    140013593..140111149 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)