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CR1L complement C3b/C4b receptor 1 like [ Homo sapiens (human) ]

Gene ID: 1379, updated on 5-Mar-2024

Summary

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Official Symbol
CR1Lprovided by HGNC
Official Full Name
complement C3b/C4b receptor 1 likeprovided by HGNC
Primary source
HGNC:HGNC:2335
See related
Ensembl:ENSG00000197721 MIM:605886; AllianceGenome:HGNC:2335
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Acts upstream of or within regulation of complement activation and regulation of complement-dependent cytotoxicity. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 3.2), appendix (RPKM 1.6) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
1q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207645133..207723703)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206891887..206970453)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207818478..207897048)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1772 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207642622-207643821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2447 Neighboring gene complement C3d receptor 2 Neighboring gene complement C3b/C4b receptor 1 (Knops blood group) Neighboring gene NANOG hESC enhancer GRCh37_chr1:207773753-207774311 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:207806821-207807492 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207808163-207808834 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207808835-207809506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2448 Neighboring gene CD46 molecule pseudogene 1 Neighboring gene cell division cycle associated 4 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 4693 Neighboring gene complement C3b/C4b receptor 1 (Knops blood group) pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207903492-207904170 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11362 Neighboring gene Sharpr-MPRA regulatory region 12474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2449 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:207925929-207926286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207935554-207936354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207936355-207937153 Neighboring gene cell division cycle associated 4 pseudogene 4 Neighboring gene CD46 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2452 Neighboring gene MIR29B2 and MIR29C host gene Neighboring gene microRNA 29c

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. A human CR1-like transcript containing sequence for a binding protein for iC4 is expressed in hematopoietic and fetal lymphoid tissue. Logar CM, et al. Mol Immunol, 2004 Jan. PMID 14687939
  2. Duplication and divergence of the amino-terminal coding region of the complement receptor 1 (CR1) gene. An example of concerted (horizontal) evolution within a gene. Hourcade D, et al. J Biol Chem, 1990 Jan 15. PMID 2295627
  3. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Kullo IJ, et al. Am J Hum Genet, 2011 Jul 15. PMID 21700265, Free PMC Article
  4. Circulating AIM prevents hepatocellular carcinoma through complement activation. Maehara N, et al. Cell Rep, 2014 Oct 9. PMID 25284781
  5. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C, et al. Nat Genet, 2009 Jan. PMID 19060910, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CR1L transcript appears to be limited to hematopoietic and fetal lymphoid tissue.
    Title: A human CR1-like transcript containing sequence for a binding protein for iC4 is expressed in hematopoietic and fetal lymphoid tissue.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
EBI GWAS Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129536

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell mediated immunity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of complement activation, classical pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of complement activation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of complement-dependent cytotoxicity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
complement component receptor 1-like protein
Names
complement C4b-binding protein CR-1-like protein
complement component (3b/4b) receptor 1-like

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.

mRNA and Protein(s)

  1. NM_175710.2 → NP_783641.1  complement component receptor 1-like protein precursor

    See identical proteins and their annotated locations for NP_783641.1

    Status: VALIDATED

    Source sequence(s)
    AL365178, AY114160, BC109191, BE842163, BE842176, BX094042, DB337938
    Consensus CDS
    CCDS44310.1
    UniProtKB/Swiss-Prot
    Q2VPA4, Q32MC9, Q8NEU7
    Related
    ENSP00000421736.2, ENST00000508064.7
    Conserved Domains (3) summary
    cd00033
    Location:289 → 346
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:35 → 287
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:35 → 91
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    207645133..207723703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    206891887..206970453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2VPA4.3 GenPept UniProtKB/Swiss-Prot:Q2VPA4

Gene LinkOut

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

Chemical Information
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