Seroatlas · Human Serome Atlas

JPH1

Junctophilin-1

Also known as: JP-1, JPH1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9HDC5
Gene: JPH1
Ensembl: ENSG00000104369
Chromosome: 8
Canonical length: 661 aa
Protein class: Human disease related genes, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

661 residues, UniProt reviewed canonical sequence.

>Q9HDC5|JPH1
     1  MTGGRFDFDD GGTYCGGWEE GKAHGHGICT GPKGQGEYSG SWSHGFEVVG GYTWPSGNTY
    61  QGYWAQGKRH GLGVETKGKW MYRGEWSHGF KGRYGVRQSL CTPARYEGTW SNGLQDGYGV
   121  ETYGDGGTYQ GQWAGGMRHG YGVRQSVPYG MATVIRSPLR TSLASLRSEQ SNGSVLHDAA
   181  AAADSPAGTR GGFVLNFHAD AELAGKKKGG LFRRGSLLGS MKLRKSESKS SISSKRSSVR
   241  SDAAMSRISS SDANSTISFG DVDCDFCPVE DHVDATTTET YMGEWKNDKR NGFGVSERSN
   301  GMKYEGEWAN NKRHGYGCTV FPDGSKEEGK YKNNILVRGI RKQLIPIRHT KTREKVDRAI
   361  EGAQRAAAMA RTKVEIANSR TAHARAKADA ADQAALAARQ ECDIARAVAR ELSPDFYQPG
   421  PDYVKQRFQE GVDAKENPEE KVPEKPPTPK ESPHFYRKGT TPPRSPEASP KHSHSPASSP
   481  KPLKKQNPSS GARLNQDKRS VADEQVTAIV NKPLMSKAPT KEAGAVVPQS KYSGRHHIPN
   541  PSNGELHSQY HGYYVKLNAP QHPPVDVEDG DGSSQSSSAL VHKPSANKWS PSKSVTKPVA
   601  KESKAEPKAK KSELAIPKNP ASNDSCPALE KEANSGPNSI MIVLVMLLNI GLAILFVHFL
   661  T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JPH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 222 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 222 nTPM
tongue: 99 nTPM
cerebellum: 14 nTPM
choroid plexus: 9.3 nTPM
heart muscle: 7.3 nTPM
basal ganglia: 6.7 nTPM

Single-cell type

myonuclei: 681 nCPM
choroid plexus epithelial cells: 316 nCPM
thymic myoid cells: 192 nCPM
brain excitatory neurons: 106 nCPM
urothelial cells: 89 nCPM
pancreatic acinar cells: 79 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 27 nTPM
basal ganglia: 15 nTPM
cerebellum: 15 nTPM
hippocampal formation: 11 nTPM
cerebral cortex: 9.4 nTPM
white matter: 6.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JPH1.

Disease | AllUniProt

Conditions JPH1 is implicated in, by any mechanism.

Congenital myopathy 25 (CMYO25) MIM:620964

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 104 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital myopathy
Congenital myopathy 25

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.41
gnomAD pLI: 0.77
gnomAD missense Z: 1.46
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

structural constituent of muscle

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads JPH1 as an antibody target. Whether an autoantibody or antibody against JPH1 could matter depends on whether native JPH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JPH1 is annotated at the cell surface, where native JPH1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label JPH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...