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

    Gene ID: 1379, updated on 2-Nov-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, Nov 2024]
    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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    See CR1L in Genome Data Viewer
    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_000001.11Genomic 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 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_2024_08

    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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