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JPH1

GENERAL INFORMATION

Gene name

 JPH1

Gene description

 Junctophilin 1

Protein class

 Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Group enriched (cerebellum, skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in muscle, most abundant in skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 3 antibodies.
HPA008996 , HPA009413 , CAB013461
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebellum, skeletal muscle)

GENE INFORMATION

Gene name

 JPH1 (HGNC Symbol)

Synonyms

 JP-1

Description

 Junctophilin 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 8

Cytoband

 q21.11

Chromosome location (bp)

 74234700 - 74321328

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000104369 (version 83.38)

Entrez gene

 56704

UniProt

 Q9HDC5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9HDC5

Antibodypedia

 JPH1 antibodies

PROTEIN BROWSER
JPH1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
JPH1-001
ENSP00000344488
ENST00000342232
Q9HDC5 [Direct mapping]
Junctophilin-1
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003674 [molecular_function]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0007517 [muscle organ development]
GO:0008307 [structural constituent of muscle]
GO:0014701 [junctional sarcoplasmic reticulum membrane]
GO:0016021 [integral component of membrane]
GO:0030018 [Z disc]
GO:0030314 [junctional membrane complex]
GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity]
GO:0060402 [calcium ion transport into cytosol]
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 661 aa
71.7 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.