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

    Gene ID: 126306, updated on 10-Dec-2024

    Summary

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    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

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    See JSRP1 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2236352-2236960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9775 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2239731-2240468 Neighboring gene splicing factor 3a subunit 2 Neighboring gene Sharpr-MPRA regulatory region 2271 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2242682-2242879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2243337-2243914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2245579-2246079 Neighboring gene AMH 5' regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9776 Neighboring gene microRNA 4321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13668 Neighboring gene anti-Mullerian hormone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13671 Neighboring gene uncharacterized LOC105372240 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2269184-2269798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9782 Neighboring gene ornithine decarboxylase antizyme 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. Gouadon E, et al. J Physiol, 2006 Apr 1. PMID 16423849, Free PMC Article
    2. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Yasuda T, et al. Hum Mutat, 2013 Jan. PMID 22927026, Free PMC Article
    3. The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel. Anderson AA, et al. J Biol Chem, 2003 Oct 10. PMID 12871958
    4. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. Newby PR, et al. Eur J Hum Genet, 2010 Sep. PMID 20442750, Free PMC Article
    5. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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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    Markers

    Homology

    Clone Names

    • FLJ32416

    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

    1. NG_032853.1 RefSeqGene

      Range
      5007..9172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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)

    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
      2252252..2256417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2225895..2230060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MG2.1 GenPept UniProtKB/Swiss-Prot:Q96MG2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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