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    CFHR5 complement factor H related 5 [ Homo sapiens (human) ]

    Gene ID: 81494, updated on 5-Nov-2017
    Official Symbol
    CFHR5provided by HGNC
    Official Full Name
    complement factor H related 5provided by HGNC
    Primary source
    HGNC:HGNC:24668
    See related
    Ensembl:ENSG00000134389 MIM:608593; Vega:OTTHUMG00000036517
    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
    FHR5; CFHL5; FHR-5; CFHR5D
    Summary
    This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]
    Expression
    Restricted expression toward liver (RPKM 44.1) See more
    Orthologs
    Location:
    1q31.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (196975022..197009725)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196946667..196978804)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4 Neighboring gene complement factor H related 2 Neighboring gene coagulation factor XIII B chain Neighboring gene abnormal spindle microtubule assembly Neighboring gene septin 14 pseudogene 12

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    NHGRI GWA Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of complement factor H-related 5 (CFHR5) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Clone Names

    • FLJ10549, MGC133240

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    complement activation, alternative pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    protein complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    complement factor H-related protein 5
    Names
    factor H-related protein 5

    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_016365.1 RefSeqGene

      Range
      5001..37138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_227

    mRNA and Protein(s)

    1. NM_030787.3NP_110414.1  complement factor H-related protein 5 precursor

      See identical proteins and their annotated locations for NP_110414.1

      Status: REVIEWED

      Source sequence(s)
      AF295327, BC111773, BG568555, DA638244
      Consensus CDS
      CCDS1387.1
      UniProtKB/Swiss-Prot
      Q9BXR6
      Related
      ENSP00000256785.4, OTTHUMP00000034672, ENST00000256785.4, OTTHUMT00000088814
      Conserved Domains (1) summary
      cl27761
      Location:107323
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      196975022..197009725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510020.2XP_011508322.1  complement factor H-related protein 5 isoform X1

      Conserved Domains (3) summary
      cd00033
      Location:452506
      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:272325
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      pfam00084
      Location:392445
      Sushi; Sushi repeat (SCR repeat)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      198368946..198401079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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