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    HRC histidine rich calcium binding protein [ Homo sapiens (human) ]

    Gene ID: 3270, updated on 27-Nov-2024

    Summary

    Official Symbol
    HRCprovided by HGNC
    Official Full Name
    histidine rich calcium binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:5178
    See related
    Ensembl:ENSG00000130528 MIM:142705; AllianceGenome:HGNC:5178
    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
    Summary
    This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]
    Expression
    Restricted expression toward heart (RPKM 206.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HRC in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49151198..49155396, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52145932..52150133, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49654455..49658653, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49621711-49622222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49623585-49624085 Neighboring gene chromosome 19 open reading frame 73 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10914 Neighboring gene lin-7 homolog B, crumbs cell polarity complex component Neighboring gene PTPRF interacting protein alpha 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49635887-49636531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49640079-49640585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49644909-49645502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49654589-49655198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49660783-49661404 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49662088-49662274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49668584-49669227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49669228-49669870 Neighboring gene transient receptor potential cation channel subfamily M member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49691645-49692146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49692147-49692646 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49700016-49700342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49713888-49714526 Neighboring gene uncharacterized LOC107985340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14929 Neighboring gene solute carrier family 6 member 21, pseudogene

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in sarcoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sarcoplasmic reticulum histidine-rich calcium-binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002152.3NP_002143.1  sarcoplasmic reticulum histidine-rich calcium-binding protein precursor

      See identical proteins and their annotated locations for NP_002143.1

      Status: REVIEWED

      Source sequence(s)
      BC094691
      Consensus CDS
      CCDS12759.1
      UniProtKB/Swiss-Prot
      P23327, Q504Y6
      UniProtKB/TrEMBL
      Q2M1I0
      Related
      ENSP00000252825.3, ENST00000252825.9

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49151198..49155396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026733.3XP_016882222.3  sarcoplasmic reticulum histidine-rich calcium-binding protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52145932..52150133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320809.1XP_054176784.1  sarcoplasmic reticulum histidine-rich calcium-binding protein isoform X1