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

Gene ID: 3270, updated on 17-Jun-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
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Genomic context

See HRC in Genome Data Viewer
Location:
19q13.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49151198..49155396, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52145932..52150133, complement)
105.20220307 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)

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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_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_2023_10

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

    UniProtKB/TrEMBL
    M0QZ43

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

    UniProtKB/TrEMBL
    M0QZ43