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

Gene ID: 3078, updated on 27-Sep-2020

Summary

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
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; 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

Genomic context

See CFHR1 in Genome Data Viewer
Location:
1q31.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196819731..196832189)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196788861..196801319)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H Neighboring gene complement factor H related 3 Neighboring gene complement factor H-related protein 3-like Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4

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
Age-related macular degeneration 1
MedGen: C1864205 OMIM: 603075 GeneReviews: Not available
Compare labs
Atypical hemolytic-uremic syndrome 1 Compare labs
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
PubMed 
cytolysis by host of symbiont cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001379306.1NP_001366235.1  complement factor H-related protein 1 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  2. NM_001379307.1NP_001366236.1  complement factor H-related protein 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  3. NM_001379308.1NP_001366237.1  complement factor H-related protein 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  4. NM_001379309.1NP_001366238.1  complement factor H-related protein 1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  5. NM_001379310.1NP_001366239.1  complement factor H-related protein 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  6. NM_001379311.1NP_001366240.1  complement factor H-related protein 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  7. NM_001379312.1NP_001366241.1  complement factor H-related protein 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049741
  8. NM_002113.3NP_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
    Q03591
    Related
    ENSP00000314299.5, ENST00000320493.9
    Conserved Domains (1) summary
    cd00033
    Location:208262
    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 109.20200815

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
    196819731..196832189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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