JSRP1 junctional sarcoplasmic reticulum protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JSRP1provided by HGNC
Official Full Name: junctional sarcoplasmic reticulum protein 1provided by HGNC
Primary source: HGNC:HGNC:24963
See related: Ensembl:ENSG00000167476 MIM:608743; AllianceGenome:HGNC:24963
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
Also known as: JP45; JP-45
Summary: The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
Expression: Biased expression in prostate (RPKM 1.9), stomach (RPKM 0.9) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2252252..2256417, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2225895..2230060, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2252251..2256416, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Data indicate that the presence of either one of these JP-45 variants decreased the sensitivity of the dihydropyridine receptor DHPR to activation.
Title: JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study.
The results may be explained by a modulatory effect of JP-45 related to its reported in vitro interaction with the dihydropyridine receptor and the SR Ca(2+) binding protein calsequestrin (CSQ).
Title: A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

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

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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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 skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: junctional sarcoplasmic reticulum protein 1

Names: 2310032K21Rik; homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45; junctional-face membrane protein of 45 kDa homolog; skeletal muscle sarcoplasmic reticulum protein JP-45

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.

Genomic

NG_032853.1 RefSeqGene

Range

5007..9172

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_144616.4 → NP_653217.1 junctional sarcoplasmic reticulum protein 1

See identical proteins and their annotated locations for NP_653217.1

Status: REVIEWED

Source sequence(s)

AK056978, AW137573, DA897543, DA898560

Consensus CDS

CCDS12086.1

UniProtKB/Swiss-Prot

Q96MG2

Related

ENSP00000300961.4, ENST00000300961.10

Conserved Domains (2) summary

pfam15312
Location:115 → 173

JSRP; Junctional sarcoplasmic reticulum protein

cl25751
Location:199 → 323

DUF4045; Domain of unknown function (DUF4045)