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

    Gene ID: 81494, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:24668
    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
    all
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    Genomic context

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    See CFHR5 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196975034..197009678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196236842..196271501)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196946686..196978808)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196902813-196903312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:196910913-196911413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2275 Neighboring gene complement factor H related 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196960781-196961380 Neighboring gene MPRA-validated peak639 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:196986547-196987746 Neighboring gene coagulation factor XIII B chain Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:197037498-197038697 Neighboring gene MPRA-validated peak640 silencer Neighboring gene assembly factor for spindle microtubules Neighboring gene septin 14 pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis. Lee JH, et al. J Mol Med (Berl), 2024 Apr. PMID 38418621
    2. Complement-regulator factor H and related proteins in otitis media with effusion. Närkiö-Mäkelä M, et al. Clin Immunol, 2001 Jul. PMID 11414752
    3. Factor H-related protein-5: a novel component of human glomerular immune deposits. Murphy B, et al. Am J Kidney Dis, 2002 Jan. PMID 11774097
    4. Location and structure of the human FHR-5 gene. McRae JL, et al. Genetica, 2002 Mar. PMID 12041828
    5. Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein. McRae JL, et al. J Immunol, 2005 May 15. PMID 15879123

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
      Title: Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
    2. The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.
      Title: The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.
    3. Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
      Title: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
    4. Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
      Title: Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
    5. Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
      Title: Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
    6. FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
      Title: FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
    7. Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.
      Title: Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.
    8. Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
      Title: Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
    9. The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
      Title: The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
    10. Higher circulating FHR-5 levels in IgA nephropathy patients were associated with a lower estimated glomerular filtration rate, hypertension, and severe Oxford-T and Oxford-C scores. High FHR-5 levels were independently and significantly associated with a risk of developing either a 30% decline in the estimated glomerular filtration rate or end-stage renal disease.
      Title: Circulating complement factor H-related protein 5 levels contribute to development and progression of IgA nephropathy.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    CFHR5 deficiency
    MedGen: C3553720 GeneReviews: Not available
    		not available
    CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
    MedGen: CN120381 GeneReviews: C3 Glomerulopathy
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ10549, MGC133240

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in complement activation, alternative pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cytolysis by host of symbiont cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement factor H-related protein 5
    Names
    factor H-related protein 5

    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.

    Genomic

    1. NG_016365.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_030787.4 → NP_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, AL353809, BC111773, BG568555, DA638244
      Consensus CDS
      CCDS1387.1
      UniProtKB/Swiss-Prot
      Q2NKK2, Q9BXR6
      UniProtKB/TrEMBL
      B2RA39
      Related
      ENSP00000256785.4, ENST00000256785.5
      Conserved Domains (1) summary
      cl27761
      Location:107 → 323
      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: GCF_000001405.40-RS_2024_08

    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
      196975034..197009678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510020.3 → XP_011508322.1  complement factor H-related protein 5 isoform X1

      UniProtKB/TrEMBL
      B2RA39
      Related
      ENSP00000514393.1, ENST00000699466.1
      Conserved Domains (3) summary
      cd00033
      Location:452 → 506
      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:272 → 325
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      pfam00084
      Location:392 → 445
      Sushi; Sushi repeat (SCR repeat)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791754.1 Reference GRCh38.p14 PATCHES

      Range
      740149..774808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332759.1 → XP_054188734.1  complement factor H-related protein 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196236842..196271501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338895.1 → XP_054194870.1  complement factor H-related protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXR6.1 GenPept UniProtKB/Swiss-Prot:Q9BXR6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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