SSR4
entrez
6748
canonical
uniprot
P51571
canonical
ensembl
ENSG00000180879
resolver
ensp
ENSP00000317331
resolver
ensp
ENSP00000359103
resolver
ensp
ENSP00000359104
resolver
ensp
ENSP00000524666
resolver
ensp
ENSP00000524667
resolver
enst
ENST00000320857
resolver
enst
ENST00000370086
resolver
enst
ENST00000370087
resolver
enst
ENST00000854607
resolver
enst
ENST00000854608
resolver
genesymbol
SSR4
resolver
genesymbol_syn
TRAPD
resolver
hgnc
HGNC:11326
resolver
uniprot
A8K378
resolver
uniprot
Q53XY1
resolver
uniprot_entry
SSRD_HUMAN
resolver
uniprot_sec
A8K378
resolver
uniprot_sec
Q53XY1
resolver
amino_acid_sequence
MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNRVQNMALYADVGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVIYYLAFSAKSHIQA
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1Y (CDG1Y) [MIM:300934]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:24218363}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
uniprot
proteins
mass_dalton
18999
uniprot
proteins
protein_family
TRAP-delta family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
20598277
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24218363
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
36697828
uniprot
proteins
pubmed
7492314
uniprot
proteins
pubmed
9286695
uniprot
proteins
sequence_length
173
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins