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

    Gene ID: 12628, updated on 9-Dec-2024

    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 with a positive effect on retina development in camera-type eye. Acts upstream of or within several processes, including complement activation; retina development in camera-type eye; and skeletal system 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; hemolymphoid system; 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 human CFH (complement factor H). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver E18 (RPKM 75.9), liver adult (RPKM 32.7) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cfh in Genome Data Viewer
    Location:
    1 61.62 cM; 1 F
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 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 STARR-seq mESC enhancer starr_02496 Neighboring gene STARR-seq mESC enhancer starr_02497 Neighboring gene potassium channel, subfamily T, member 2 Neighboring gene STARR-seq mESC enhancer starr_02498 Neighboring gene STARR-seq mESC enhancer starr_02500 Neighboring gene RIKEN cDNA 4930590L20 gene Neighboring gene STARR-seq mESC enhancer starr_02501 Neighboring gene STARR-seq mESC enhancer starr_02502 Neighboring gene STARR-seq mESC enhancer starr_02503 Neighboring gene STARR-seq mESC enhancer starr_02505 Neighboring gene STARR-seq mESC enhancer starr_02507 Neighboring gene STARR-seq mESC enhancer starr_02508 Neighboring gene STARR-seq mESC enhancer starr_02509 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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 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 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 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
     
    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 mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    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.

    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, Q6NZK3
      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: GCF_000001635.27-RS_2024_02

    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)