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JPH1 junctophilin 1 [ Homo sapiens (human) ]

Gene ID: 56704, updated on 3-May-2020

Summary

Official Symbol
JPH1provided by HGNC
Official Full Name
junctophilin 1provided by HGNC
Primary source
HGNC:HGNC:14201
See related
Ensembl:ENSG00000104369 MIM:605266
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
JP1; JP-1; CMT2K
Summary
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues See more
Orthologs

Genomic context

See JPH1 in Genome Data Viewer
Location:
8q21.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (74234700..74321540, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (75146935..75233721, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lymphocyte antigen 96 Neighboring gene RNA, U6 small nuclear 1197, pseudogene Neighboring gene uncharacterized LOC105375903 Neighboring gene ganglioside induced differentiation associated protein 1 Neighboring gene microRNA 5681a Neighboring gene microRNA 5681b

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

Homology

Clone Names

  • DKFZp762L0313

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
structural constituent of muscle IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transport into cytosol TAS
Traceable Author Statement
more info
PubMed 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
junctional membrane complex NAS
Non-traceable Author Statement
more info
PubMed 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
junctophilin-1
Names
junctophilin type 1

NCBI Reference Sequences (RefSeq)

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_046331.1 RefSeqGene

    Range
    4788..91628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317830.2NP_001304759.1  junctophilin-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC087792, AF110324, BC140875, BU687964, BX537756
    Consensus CDS
    CCDS6217.1
    UniProtKB/Swiss-Prot
    Q9HDC5
    UniProtKB/TrEMBL
    Q7Z682
    Conserved Domains (2) summary
    cl25526
    Location:434528
    TonB_N; TonB N-terminal region
    cl27415
    Location:4143
    COG4642; Uncharacterized conserved protein [Function unknown]
  2. NM_001363050.1NP_001349979.1  junctophilin-1

    Status: REVIEWED

    Source sequence(s)
    AC087792, BC049372, BC140875, BU687964, BX537756
    Conserved Domains (2) summary
    cl25526
    Location:434528
    TonB_N; TonB N-terminal region
    cl27415
    Location:4143
    COG4642; Uncharacterized conserved protein [Function unknown]
  3. NM_001363051.1NP_001349980.1  junctophilin-1

    Status: REVIEWED

    Source sequence(s)
    AC087792, BC049372, BC140875, BU687964, BX537756
    Conserved Domains (2) summary
    cl25526
    Location:434528
    TonB_N; TonB N-terminal region
    cl27415
    Location:4143
    COG4642; Uncharacterized conserved protein [Function unknown]
  4. NM_020647.4NP_065698.1  junctophilin-1

    See identical proteins and their annotated locations for NP_065698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC087792, AF110324, BC049372, BC140875, BU687964, BX537756
    Consensus CDS
    CCDS6217.1
    UniProtKB/Swiss-Prot
    Q9HDC5
    UniProtKB/TrEMBL
    Q7Z682, Q86VR1
    Related
    ENSP00000344488.4, ENST00000342232.5
    Conserved Domains (2) summary
    cl25526
    Location:434528
    TonB_N; TonB N-terminal region
    cl27415
    Location:4143
    COG4642; Uncharacterized conserved protein [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    74234700..74321540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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