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JPH4 junctophilin 4 [ Homo sapiens (human) ]

Gene ID: 84502, updated on 11-Jun-2021

Summary

Official Symbol
JPH4provided by HGNC
Official Full Name
junctophilin 4provided by HGNC
Primary source
HGNC:HGNC:20156
See related
Ensembl:ENSG00000092051
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
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Genomic context

See JPH4 in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23568038..23578790, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24037247..24047999, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene thiamine triphosphatase Neighboring gene zinc finger homeobox 2 Neighboring gene AP1G2 antisense RNA 1 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene Sharpr-MPRA regulatory region 10629 Neighboring gene dehydrogenase/reductase 2

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

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
part_of junctional membrane complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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.

mRNA and Protein(s)

  1. NM_001146028.2NP_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, ENST00000356300.9
    Conserved Domains (2) summary
    PLN03185
    Location:5143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    PRK07003
    Location:369606
    PRK07003; DNA polymerase III subunit gamma/tau
  2. NM_032452.3NP_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, ENST00000397118.7
    Conserved Domains (2) summary
    PLN03185
    Location:5143
    PLN03185; phosphatidylinositol phosphate kinase; Provisional
    PRK07003
    Location:369606
    PRK07003; DNA polymerase III subunit gamma/tau

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23568038..23578790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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