JPH1

Protein-coding gene in the species Homo sapiens
JPH1
Identifiers
AliasesJPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDsOMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for JPH1
Genomic location for JPH1
Band8q21.11Start74,234,700 bp[1]
End74,321,540 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for JPH1
Genomic location for JPH1
Band1|1 A3Start17,034,784 bp[2]
End17,168,113 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • quadriceps femoris muscle

  • vastus lateralis muscle

  • tibialis anterior muscle

  • Skeletal muscle tissue of biceps brachii

  • deltoid muscle

  • Skeletal muscle tissue of rectus abdominis

  • gastrocnemius muscle

  • muscle of thigh

  • body of tongue

  • endothelial cell
Top expressed in
  • triceps brachii muscle

  • sternocleidomastoid muscle

  • temporal muscle

  • digastric muscle

  • ankle

  • muscle of thigh

  • intercostal muscle

  • soleus muscle

  • skeletal muscle tissue

  • medial head of gastrocnemius muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • structural constituent of muscle
  • molecular function
  • calcium-release channel activity
Cellular component
  • sarcoplasmic reticulum membrane
  • endoplasmic reticulum membrane
  • plasma membrane
  • membrane
  • sarcoplasmic reticulum
  • junctional sarcoplasmic reticulum membrane
  • integral component of membrane
  • junctional membrane complex
  • endoplasmic reticulum
  • Z discdkac
  • nucleus
  • nucleoplasm
Biological process
  • regulation of ryanodine-sensitive calcium-release channel activity
  • muscle organ development
  • calcium ion transport into cytosol
  • release of sequestered calcium ion into cytosol
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56704

57339

Ensembl

ENSG00000104369

ENSMUSG00000042686

UniProt

Q9HDC5
Q86VR1

Q9ET80

RefSeq (mRNA)

NM_020647
NM_001317830
NM_001363050
NM_001363051

NM_020604

RefSeq (protein)

NP_001304759
NP_065698
NP_001349979
NP_001349980
NP_065698.1

NP_065629

Location (UCSC)Chr 8: 74.23 – 74.32 MbChr 1: 17.03 – 17.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.[5][6][7]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104369 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042686 – 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. ^ Nishi M, Mizushima A, Nakagawara K, Takeshima H (Sep 2000). "Characterization of human junctophilin subtype genes". Biochem Biophys Res Commun. 273 (3): 920–7. doi:10.1006/bbrc.2000.3011. PMID 10891348.
  6. ^ Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K (Aug 2000). "Junctophilins: a novel family of junctional membrane complex proteins". Mol Cell. 6 (1): 11–22. doi:10.1016/S1097-2765(05)00005-5. PMID 10949023.
  7. ^ a b "Entrez Gene: JPH1 junctophilin 1".

Further reading

  • Takeshima H (2003). "Ryanodine receptor and junctional membrane structure". Nippon Yakurigaku Zasshi. 121 (4): 203–10. doi:10.1254/fpj.121.203. PMID 12777839.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331–5. Bibcode:2006Natur.439..331N. doi:10.1038/nature04406. PMID 16421571.
  • Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Komazaki S, Ito K, Takeshima H, Nakamura H (2002). "Deficiency of triad formation in developing skeletal muscle cells lacking junctophilin type 1". FEBS Lett. 524 (1–3): 225–9. doi:10.1016/S0014-5793(02)03042-9. PMID 12135771. S2CID 9826632.


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