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

Gene ID: 81494, updated on 5-Jan-2022

Summary

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
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
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Genomic context

See CFHR5 in Genome Data Viewer
Location:
1q31.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196975022..197009725)
105.20201022 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 complement factor H related 2 Neighboring gene Sharpr-MPRA regulatory region 826 Neighboring gene coagulation factor XIII B chain Neighboring gene assembly factor for spindle microtubules Neighboring gene septin 14 pseudogene 12

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CFHR5 deficiency
MedGen: C3553720 OMIM: 614809 GeneReviews: Not available
Compare labs
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
MedGen: CN120381 GeneReviews: C3 Glomerulopathy
Compare labs
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ10549, MGC133240

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
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
 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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_030787.4NP_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
    Q9BXR6
    Related
    ENSP00000256785.4, ENST00000256785.5
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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)
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