JPH3
entrez
57338
canonical
uniprot
Q8WXH2
canonical
ensembl
ENSG00000154118
resolver
ensp
ENSP00000284262
resolver
genesymbol
JPH3
resolver
genesymbol_syn
JP3
resolver
genesymbol_syn
TNRC22
resolver
hgnc
HGNC:14203
resolver
uniprot
B4DIC1
resolver
uniprot
D3DUN2
resolver
uniprot
F8W9A3
resolver
uniprot
Q8N471
resolver
uniprot
Q96HD8
resolver
uniprot
Q9HDC3
resolver
uniprot
Q9HDC4
resolver
uniprot_entry
B4DIC1_HUMAN
resolver
uniprot_entry
F8W9A3_HUMAN
resolver
uniprot_entry
JPH3_HUMAN
resolver
uniprot_entry
Q96HD8_HUMAN
resolver
uniprot_sec
D3DUN2
resolver
uniprot_sec
Q8N471
resolver
uniprot_sec
Q9HDC3
resolver
uniprot_sec
Q9HDC4
resolver
amino_acid_sequence
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFSPSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSRGVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRLLELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQNKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKSSTGSAPILVVMVILLNIGVAILFINFFI
uniprot
proteins
disease_involvement
DISEASE: Huntington disease-like 2 (HDL2) [MIM:606438]: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. {ECO:0000269|PubMed:11914418, ECO:0000269|PubMed:14557581}. 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. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.
uniprot
proteins
mass_dalton
81469
uniprot
proteins
protein_family
Junctophilin family
uniprot
proteins
pubmed
10891348
uniprot
proteins
pubmed
11694876
uniprot
proteins
pubmed
11914418
uniprot
proteins
pubmed
14557581
uniprot
proteins
pubmed
15489334
uniprot
proteins
sequence_length
748
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}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 728..748; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins