JPH1
entrez
56704
canonical
uniprot
Q9HDC5
canonical
ensembl
ENSG00000104369
resolver
ensp
ENSP00000344488
resolver
ensp
ENSP00000538496
resolver
ensp
ENSP00000538497
resolver
ensp
ENSP00000538498
resolver
ensp
ENSP00000538499
resolver
ensp
ENSP00000538500
resolver
ensp
ENSP00000538501
resolver
ensp
ENSP00000538502
resolver
enst
ENST00000342232
resolver
enst
ENST00000868437
resolver
enst
ENST00000868438
resolver
enst
ENST00000868439
resolver
enst
ENST00000868440
resolver
enst
ENST00000868441
resolver
enst
ENST00000868442
resolver
enst
ENST00000868443
resolver
genesymbol
JPH1
resolver
genesymbol_syn
JP1
resolver
hgnc
HGNC:14201
resolver
uniprot
B2RTZ0
resolver
uniprot
Q86VR1
resolver
uniprot_entry
JPH1_HUMAN
resolver
uniprot_entry
Q86VR1_HUMAN
resolver
uniprot_sec
B2RTZ0
resolver
amino_acid_sequence
MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTYQGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAAAAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRKSESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSNGMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAIEGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPGPDYVKQRFQEGVDAKENPEEKVPEKPPTPKESPHFYRKGTTPPRSPEASPKHSHSPASSPKPLKKQNPSSGARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPNPSNGELHSQYHGYYVKLNAPQHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVAKESKAEPKAKKSELAIPKNPASNDSCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFLT
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 25 (CMYO25) [MIM:620964]: A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYO25 is an autosomal recessive form characterized by prominent facial, ocular, and bulbar features. {ECO:0000269|PubMed:39209426}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.
uniprot
proteins
mass_dalton
71686
uniprot
proteins
protein_family
Junctophilin family
uniprot
proteins
pubmed
10891348
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
39209426
uniprot
proteins
sequence_length
661
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands (By similarity). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 640..660; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins