JPH4

Junctophilin 4 is a protein in humans that is encoded by the JPH4 gene. [5]

JPH4
Identifiers
AliasesJPH4, JP4, JPHL1, junctophilin 4
External IDsMGI: 2443113 HomoloGene: 13034 GeneCards: JPH4
Gene location (Human)
Chr.Chromosome 14 (human)[1]
Band14q11.2Start23,568,035 bp[1]
End23,578,790 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

84502

319984

Ensembl

ENSG00000092051

ENSMUSG00000022208

UniProt

Q96JJ6

Q80WT0

RefSeq (mRNA)

NM_032452
NM_001146028

NM_001003829
NM_177049

RefSeq (protein)

NP_001139500
NP_115828

NP_796023

Location (UCSC)Chr 14: 23.57 – 23.58 MbChr 14: 55.11 – 55.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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].

References

  1. GRCh38: Ensembl release 89: ENSG00000092051 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000022208 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Junctophilin 4". Retrieved 2013-04-13.

Further reading


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