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

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
Title: Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.
HRC promotes anoikis resistance and metastasis by suppressing endoplasmic reticulum stress in hepatocellular carcinoma.
Title: HRC promotes anoikis resistance and metastasis by suppressing endoplasmic reticulum stress in hepatocellular carcinoma.
Ser96Ala genetic variant of the human histidine-rich calcium-binding protein is associated with recurrence in paroxysmal atrial fibrillation.
Title: Ser96Ala genetic variant of the human histidine-rich calcium-binding protein is a genetic predictor of recurrence after catheter ablation in patients with paroxysmal atrial fibrillation.
Histidine-rich Ca-binding protein (HRC) was phosphorylated by family with sequence similarity 20C (Fam20C) both in vitro and in vivo.
Title: Phosphorylation of serine96 of histidine-rich calcium-binding protein by the Fam20C kinase functions to prevent cardiac arrhythmia.
this study demonstrates a role of HRC in promoting hepatocellular carcinoma (HCC) growth, besides its role in inducing HCC metastasis, and highlights HRC as a promising intervention target for HCC.
Title: Histidine-rich calcium binding protein promotes growth of hepatocellular carcinoma in vitro and in vivo.
Up-regulation of histidine-rich calcium binding protein promotes tumor metastasis in hepatocellular carcinoma and is mediated by SATB1.
Title: The histidine-rich calcium binding protein (HRC) promotes tumor metastasis in hepatocellular carcinoma and is upregulated by SATB1.
The S96A HRC mutation disrupts the Ca2+ -microdomain around the RyR2, as it alters the Ca2+ -dependent association of RyR2 and HRC.
Title: The arrhythmogenic human HRC point mutation S96A leads to spontaneous Ca(2+) release due to an impaired ability to buffer store Ca(2+).
findings suggest that aberrant sarcoplasmic reticulum Ca2+ release and increased susceptibility to delayed afterdepolarizations underlie triggered arrhythmic activity in Ala96 HRC carriers
Title: Abnormal calcium cycling and cardiac arrhythmias associated with the human Ser96Ala genetic variant of histidine-rich calcium-binding protein.
The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM.
Title: The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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

GDB:181998 (e-PCR)
- UniSTS:155338

GDB:181999 (e-PCR)
- UniSTS:155339

GDB:182001 (e-PCR)
- UniSTS:155341

RH71439 (e-PCR)
- UniSTS:35321

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

Process	Evidence Code	Pubs
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of heart rate	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of relaxation of cardiac muscle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of calcium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell communication by electrical coupling involved in cardiac conduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of peptidyl-serine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IGI Inferred from Genetic 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

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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.