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CR1 complement C3b/C4b receptor 1 (Knops blood group) [ Homo sapiens (human) ]

Gene ID: 1378, updated on 1-Jun-2020

Summary

Official Symbol
CR1provided by HGNC
Official Full Name
complement C3b/C4b receptor 1 (Knops blood group)provided by HGNC
Primary source
HGNC:HGNC:2334
See related
Ensembl:ENSG00000203710 MIM:120620
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
KN; C3BR; C4BR; CD35
Summary
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]
Expression
Biased expression in appendix (RPKM 18.3), spleen (RPKM 14.7) and 10 other tissues See more
Orthologs

Genomic context

See CR1 in Genome Data Viewer
Location:
1q32.2
Exon count:
47
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (207496157..207641765)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207669473..207815110)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372880 Neighboring gene complement C3d receptor 2 Neighboring gene CD46 molecule pseudogene 1 Neighboring gene complement C3b/C4b receptor 1 like Neighboring gene cell division cycle associated 4 pseudogene 3

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
KNOPS BLOOD GROUP SYSTEM
MedGen: C1292327 OMIM: 607486 GeneReviews: Not available
Compare labs
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
NHGRI GWA Catalog
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
NHGRI GWA Catalog
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
NHGRI GWA Catalog
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
NHGRI GWA Catalog
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
NHGRI GWA Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of complement component receptor 1 (CR1) in human B cells PubMed
Tat tat HIV-1 Tat downregulates the expression of complement component (3b/4b) receptor 1 (CR1; CD35) in human primary T 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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
complement component C3b binding IDA
Inferred from Direct Assay
more info
PubMed 
complement component C3b receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
complement component C4b binding IDA
Inferred from Direct Assay
more info
PubMed 
complement component C4b receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement receptor type 1
Names
C3-binding protein
C3b/C4b receptor
CD35 antigen
Knops blood group antigen
complement component (3b/4b) receptor 1 (Knops blood group)
complement receptor 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_007481.1 RefSeqGene

    Range
    5030..150638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000573.4NP_000564.2  complement receptor type 1 isoform F precursor

    See identical proteins and their annotated locations for NP_000564.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (F, also referred to as A) is the most common allele. This allele is not represented in the reference genome. It lacks eight alternate exons, compared to variant S, but maintains the reading frame. The resulting protein (F, also referred to as isoform CR1-A or CR1*1) is shorter than isoform S. Isoforms F and 3 are the same length but differ in their protein sequence.
    Source sequence(s)
    AL137789, AL691452, BF900429, BX113709, BX643705, Y00816
    Consensus CDS
    CCDS44309.1
    UniProtKB/Swiss-Prot
    P17927
    Related
    ENSP00000383744.2, ENST00000400960.7
    Conserved Domains (4) summary
    cd00033
    Location:11971253
    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:4399
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:52295
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:15911646
    Sushi; Sushi repeat (SCR repeat)
  2. NM_000651.6NP_000642.3  complement receptor type 1 isoform S precursor

    See identical proteins and their annotated locations for NP_000642.3

    Status: REVIEWED

    Source sequence(s)
    AL137789, AL691452
    Consensus CDS
    CCDS44308.1
    UniProtKB/Swiss-Prot
    P17927
    UniProtKB/TrEMBL
    E9PDY4
    Related
    ENSP00000356016.4, ENST00000367049.8
    Conserved Domains (4) summary
    cd00033
    Location:16471703
    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:4399
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:52295
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:20412096
    Sushi; Sushi repeat (SCR repeat)
  3. NM_001381851.1NP_001368780.1  complement receptor type 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks 8 alternate exons compared to variant S, but maintains the reading frame. This allele is not represented in the reference genome. The resulting protein (isoform 3) is shorter than isoform S. Isoforms 3 and F are the same length but differ in their protein sequence.
    Source sequence(s)
    AL137789, AL691452

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    207496157..207641765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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