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JPH4 junctophilin 4 [ Homo sapiens (human) ]

Gene ID: 84502, updated on 2-Oct-2018

Summary

Official Symbol
JPH4provided by HGNC
Official Full Name
junctophilin 4provided by HGNC
Primary source
HGNC:HGNC:20156
See related
Ensembl:ENSG00000092051 Vega:OTTHUMG00000028769
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
JP4; JPHL1
Summary
This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Expression
Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues See more
Orthologs

Genomic context

See JPH4 in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (23568035..23578800, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24037244..24048009, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene thiamine triphosphatase Neighboring gene zinc finger homeobox 2 Neighboring gene uncharacterized LOC102724814 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene dehydrogenase/reductase 2 Neighboring gene uncharacterized LOC105370407

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34253, KIAA1831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion transport into cytosol TAS
Traceable Author Statement
more info
PubMed 
learning IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
 
regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smooth endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
junctophilin-4
Names
JP-4
junctophilin like 1
junctophilin-like 1 protein

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.

mRNA and Protein(s)

  1. NM_001146028.1NP_001139500.1  junctophilin-4

    See identical proteins and their annotated locations for NP_001139500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB058734
    Consensus CDS
    CCDS9603.1
    UniProtKB/Swiss-Prot
    Q96JJ6
    Related
    ENSP00000348648.4, OTTHUMP00000027957, ENST00000356300.8, OTTHUMT00000071838
    Conserved Domains (2) summary
    cl26386
    Location:369606
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl27415
    Location:5143
    COG4642; Uncharacterized conserved protein [Function unknown]
  2. NM_032452.2NP_115828.2  junctophilin-4

    See identical proteins and their annotated locations for NP_115828.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB058734, BC055429, DA108605
    Consensus CDS
    CCDS9603.1
    UniProtKB/Swiss-Prot
    Q96JJ6
    Related
    ENSP00000380307.3, OTTHUMP00000246281, ENST00000397118.7, OTTHUMT00000413853
    Conserved Domains (2) summary
    cl26386
    Location:369606
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl27415
    Location:5143
    COG4642; Uncharacterized conserved protein [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    23568035..23578800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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