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CFHR1 complement factor H related 1 [ Homo sapiens (human) ]

Gene ID: 3078, updated on 2-Nov-2024

Summary

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Official Symbol
CFHR1provided by HGNC
Official Full Name
complement factor H related 1provided by HGNC
Primary source
HGNC:HGNC:4888
See related
Ensembl:ENSG00000244414 MIM:134371; AllianceGenome:HGNC:4888
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
H36; CFHL; FHR1; HFL1; HFL2; CFHL1; FHL-1; FHR-1; H36-1; H36-2; CFHL1P; CFHR1P
Summary
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Expression
Biased expression in liver (RPKM 605.6) and gall bladder (RPKM 13.9) See more
Orthologs
all
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Genomic context

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See CFHR1 in Genome Data Viewer
Location:
1q31.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196819731..196832189)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196788861..196801319)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak637 silencer Neighboring gene complement factor H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2274 Neighboring gene MPRA-validated peak638 silencer Neighboring gene complement factor H related 3 Neighboring gene complement factor H-related protein 3-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 Neighboring gene Sharpr-MPRA regulatory region 8052 Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4

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
  • 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. Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease. Irmscher S, et al. Sci Rep, 2021 Nov 18. PMID 34795372, Free PMC Article
  2. Cutting Edge: FHR-1 Binding Impairs Factor H-Mediated Complement Evasion by the Malaria Parasite Plasmodium falciparum. Reiss T, et al. J Immunol, 2018 Dec 15. PMID 30455399
  3. Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration. Martínez-Barricarte R, et al. Invest Ophthalmol Vis Sci, 2012 Mar 1. PMID 22247456
  4. CFHR1 involvement in bile duct carcinoma: Insights from a data mining study. Liu Y, et al. Anal Biochem, 2024 May. PMID 38286352
  5. CFHR1 is a potentially downregulated gene in lung adenocarcinoma. Wu G, et al. Mol Med Rep, 2019 Oct. PMID 31485643, Free PMC Article

See all (106) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CFHR1 involvement in bile duct carcinoma: Insights from a data mining study.
    Title: CFHR1 involvement in bile duct carcinoma: Insights from a data mining study.
  2. The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
    Title: The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
  3. CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
    Title: CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
  4. CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
    Title: CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
  5. Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
    Title: Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
  6. Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.
    Title: Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy.
  7. 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.
  8. High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
    Title: High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
  9. A synthetic protein as efficient multitarget regulator against complement over-activation.
    Title: A synthetic protein as efficient multitarget regulator against complement over-activation.
  10. Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease.
    Title: Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease.
Submit: New GeneRIF Correction See all GeneRIFs (79)

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
Age related macular degeneration 1
MedGen: C1864205 OMIM: 603075 GeneReviews: Not available
not available
Hemolytic uremic syndrome, atypical, susceptibility to, 1
MedGen: C2749604 OMIM: 235400 GeneReviews: Genetic Atypical Hemolytic-Uremic Syndrome
not available

EBI GWAS Catalog

Description
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
EBI GWAS Catalog
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
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)

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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Markers

Homology

Clone Names

  • MGC104329

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 
Process Evidence Code Pubs
involved_in complement activation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytolysis by host of symbiont cells IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in blood microparticle HDA 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 IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
complement factor H-related protein 1
Names
H factor (complement)-like 1
H factor (complement)-like 2
H-factor-like 1
complement factor H-related 1 pseudogene
h factor-like protein 1

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_013060.1 RefSeqGene

    Range
    5001..17459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_149

mRNA and Protein(s)

  1. NM_001379306.1 → NP_001366235.1  complement factor H-related protein 1 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    UniProtKB/TrEMBL
    B1AKG0
    Conserved Domains (1) summary
    PHA02927
    Location:90 → 312
    PHA02927; secreted complement-binding protein; Provisional

  2. NM_001379307.1 → NP_001366236.1  complement factor H-related protein 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Consensus CDS
    CCDS91131.1
    UniProtKB/TrEMBL
    A0A8V8TNS5
    Related
    ENSP00000514391.1, ENST00000699454.1

  3. NM_001379308.1 → NP_001366237.1  complement factor H-related protein 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Conserved Domains (1) summary
    PHA02927
    Location:52 → 274
    PHA02927; secreted complement-binding protein; Provisional

  4. NM_001379309.1 → NP_001366238.1  complement factor H-related protein 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Conserved Domains (1) summary
    PHA02927
    Location:51 → 273
    PHA02927; secreted complement-binding protein; Provisional

  5. NM_001379310.1 → NP_001366239.1  complement factor H-related protein 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Conserved Domains (1) summary
    PHA02927
    Location:42 → 264
    PHA02927; secreted complement-binding protein; Provisional

  6. NM_001379311.1 → NP_001366240.1  complement factor H-related protein 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Conserved Domains (1) summary
    PHA02927
    Location:72 → 261
    PHA02927; secreted complement-binding protein; Provisional

  7. NM_001379312.1 → NP_001366241.1  complement factor H-related protein 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Consensus CDS
    CCDS91132.1
    UniProtKB/TrEMBL
    A0A8V8TQ26
    Related
    ENSP00000514392.1, ENST00000699455.1
    Conserved Domains (1) summary
    PHA02927
    Location:26 → 248
    PHA02927; secreted complement-binding protein; Provisional

  8. NM_002113.3 → NP_002104.2  complement factor H-related protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002104.2

    Status: REVIEWED

    Source sequence(s)
    AL049741
    Consensus CDS
    CCDS1386.1
    UniProtKB/Swiss-Prot
    A8K465, Q03591, Q3B774, Q9UJ17
    UniProtKB/TrEMBL
    B1AKG0
    Related
    ENSP00000314299.5, ENST00000320493.10
    Conserved Domains (1) summary
    cd00033
    Location:208 → 262
    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
    196819731..196832189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03591.2 GenPept UniProtKB/Swiss-Prot:Q03591

Gene LinkOut

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