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

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, Nov 2024]
Expression: Biased expression in bone marrow (RPKM 3.2), appendix (RPKM 1.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (207645133..207723703)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (206891887..206970453)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (207818478..207897048)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76279 (e-PCR)
- UniSTS:10004

SHGC-53730 (e-PCR)
- UniSTS:48407

SHGC-76277 (e-PCR)
- UniSTS:54042

NoName (e-PCR)
- UniSTS:482617

SHGC-76233 (e-PCR)
- UniSTS:73041

SHGC-33387 (e-PCR)
- UniSTS:30072

SHGC-82542 (e-PCR)
- UniSTS:95645

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)

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)