Hrc histidine rich calcium binding protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hrcprovided by MGI
Official Full Name: histidine rich calcium binding proteinprovided by MGI
Primary source: MGI:MGI:96226
See related: Ensembl:ENSMUSG00000038239 AllianceGenome:MGI:96226
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable ATPase binding activity; calcium ion binding activity; and transmembrane transporter binding activity. Acts upstream of or within calcium ion homeostasis and regulation of heart contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Orthologous to human HRC (histidine rich calcium binding protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 166.3) and mammary gland adult (RPKM 10.8) See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.26 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (44984693..44988397)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45335269..45338973)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The minimal KEKE motif of TRN involved in the interactions with CSQ2, HRC and RyR2 within the Ca2+ release units of cardiac sarcoplasmic reticulum has been defined.
Title: Characterization of Ca(2+)-Dependent Protein-Protein Interactions within the Ca(2+) Release Units of Cardiac Sarcoplasmic Reticulum.
While CASQ2 stabilizes RyR2 rendering it refractory in the diastolic phase, HRC enhances RyR2 activity facilitating RyR2 recovery from refractoriness.
Title: Ablation of HRC alleviates cardiac arrhythmia and improves abnormal Ca handling in CASQ2 knockout mice prone to CPVT.
Ablation of HRC is associated with poorly regulated SR Ca(2+)-cycling, and severe pathology under pressure-overload stress, suggesting an essential role of HRC in maintaining the integrity of cardiac function.
Title: Targeted ablation of the histidine-rich Ca(2+)-binding protein (HRC) gene is associated with abnormal SR Ca(2+)-cycling and severe pathology under pressure-overload stress.
Histidine-rich Ca-binding protein may play a key role in the regulation of SR Ca cycling through its direct interactions with SERCA2 and triadin, mediating a fine cross talk between SR Ca uptake and release in the heart.
Title: Histidine-rich Ca-binding protein interacts with sarcoplasmic reticulum Ca-ATPase.
alterations in expression levels of HRC are associated with impaired cardiac SR Ca homeostasis and contractile function.
Title: Regulation of myocardial function by histidine-rich, calcium-binding protein.
Results identify the HRC enhancer as the first MEF2-dependent, CArG-motif-independent transcriptional target in smooth muscle and represent the first analysis of the transcriptional regulation of a sarcoplasmic reticulum gene in vivo.
Title: HRC is a direct transcriptional target of MEF2 during cardiac, skeletal, and arterial smooth muscle development in vivo.
HRC may be an integral regulatory protein involved in cardiac muscle SR Ca uptake and Ca homeostasis
Title: Histidine-rich Ca binding protein: a regulator of sarcoplasmic reticulum calcium sequestration and cardiac function.
The exaggerated response of HRC knockout mice to the induction of cardiac hypertrophy is consistent with a regulatory role for HRC in calcium handling in vivo.
Title: Increased susceptibility to isoproterenol-induced cardiac hypertrophy and impaired weight gain in mice lacking the histidine-rich calcium-binding protein.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

General gene information

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Markers

Hrc (e-PCR), detects polymorphism
- UniSTS:507350

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion import into sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of heart contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of relaxation of cardiac muscle	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell communication by electrical coupling involved in cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of heart contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

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.