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

Gene ID: 1379, updated on 8-Dec-2022

Summary

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

See CR1L in Genome Data Viewer
Location:
1q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207645133..207723703)
110 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 complement C3d receptor 2 Neighboring gene complement C3b/C4b receptor 1 (Knops blood group) 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 CRISPRi-validated cis-regulatory element chr1.11362 Neighboring gene Sharpr-MPRA regulatory region 12474

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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_175710.2NP_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, Q8NEU7
    Related
    ENSP00000421736.2, ENST00000508064.7
    Conserved Domains (3) summary
    cd00033
    Location:289346
    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:35287
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:3591
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)