BET1
entrez
10282
canonical
uniprot
O15155
canonical
ensembl
ENSG00000105829
resolver
ensp
ENSP00000222547
resolver
ensp
ENSP00000391228
resolver
genesymbol
BET1
resolver
hgnc
HGNC:14562
resolver
uniprot
Q53XK0
resolver
uniprot
Q96EA0
resolver
uniprot_entry
BET1_HUMAN
resolver
uniprot_entry
Q53XK0_HUMAN
resolver
uniprot_sec
Q96EA0
resolver
amino_acid_sequence
MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVTAIKSLSIEIGHEVKTQNKLLAEMDSQFDSTTGFLGKTMGKLKILSRGSQTKLLCYMMLFSLFVFFIIYWIIKLR
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, congenital, with rapid progression (MDRP) [MIM:254100]: An autosomal recessive congenital disease that manifests with severely progressive muscular dystrophy, and results in death in infancy or early childhood. Clinical features include hypotonia and poor feeding, delayed motor development, progressive weakness and lethargy, and respiratory insufficiency. Some patients may have refractory epilepsy and cataracts. {ECO:0000269|PubMed:34779586}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for vesicular transport from the ER to the Golgi complex (PubMed:34779586). Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity). {ECO:0000250|UniProtKB:Q62896, ECO:0000269|PubMed:34779586}.
uniprot
proteins
mass_dalton
13289
uniprot
proteins
protein_family
BET1 family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34779586
uniprot
proteins
pubmed
9382863
uniprot
proteins
sequence_length
118
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:34779586}; Single-pass type IV membrane protein {ECO:0000250}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:34779586}. Golgi apparatus membrane {ECO:0000250}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus (By similarity). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 95..115; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins