ORMDL2
entrez
29095
canonical
uniprot
Q53FV1
canonical
ensembl
ENSG00000123353
resolver
ensp
ENSP00000243045
resolver
ensp
ENSP00000448788
resolver
ensp
ENSP00000521475
resolver
ensp
ENSP00000521476
resolver
ensp
ENSP00000521477
resolver
ensp
ENSP00000590605
resolver
enst
ENST00000243045
resolver
enst
ENST00000548974
resolver
enst
ENST00000851416
resolver
enst
ENST00000851417
resolver
enst
ENST00000851418
resolver
enst
ENST00000920546
resolver
genesymbol
ORMDL2
resolver
hgnc
HGNC:16037
resolver
uniprot
B2RA58
resolver
uniprot
Q7Z4E5
resolver
uniprot
Q8NFX0
resolver
uniprot
Q9P004
resolver
uniprot_entry
ORML2_HUMAN
resolver
uniprot_sec
B2RA58
resolver
uniprot_sec
Q7Z4E5
resolver
uniprot_sec
Q8NFX0
resolver
uniprot_sec
Q9P004
resolver
amino_acid_sequence
MNVGVAHSEVNPNTRVMNSRGIWLAYIILVGLLHMVLLSIPFFSIPVVWTLTNVIHNLATYVFLHTVKGTPFETPDQGKARLLTHWEQMDYGLQFTSSRKFLSISPIVLYLLASFYTKYDAAHFLINTASLLSVLLPKLPQFHGVRVFGINKY
uniprot
proteins
function
FUNCTION: Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels (PubMed:20182505). When complexed to SPT, the binding of ceramides to its N-terminus stabilizes a conformation that block SPT substrate entry, hence preventing SPT catalytic activity. Through this mechanism, maintains ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis (By similarity). {ECO:0000250|UniProtKB:Q8N138, ECO:0000269|PubMed:20182505}.
uniprot
proteins
mass_dalton
17363
uniprot
proteins
protein_family
ORM family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12093374
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17928364
uniprot
proteins
pubmed
20182505
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
153
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12093374}; Multi-pass membrane protein {ECO:0000269|PubMed:12093374}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 43..63; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins