STEEP1
entrez
63932
canonical
uniprot
Q9H5V9
canonical
ensembl
ENSG00000018610
resolver
ensp
ENSP00000320345
resolver
ensp
ENSP00000441786
resolver
ensp
ENSP00000494123
resolver
genesymbol
STEEP1
resolver
genesymbol_syn
CXorf56
resolver
hgnc
HGNC:26239
resolver
uniprot
A8MPX7
resolver
uniprot
B4DQN2
resolver
uniprot
D3DWH9
resolver
uniprot
F5GWL7
resolver
uniprot
O43351
resolver
uniprot_entry
STEEP_HUMAN
resolver
uniprot_sec
A8MPX7
resolver
uniprot_sec
B4DQN2
resolver
uniprot_sec
D3DWH9
resolver
uniprot_sec
F5GWL7
resolver
uniprot_sec
O43351
resolver
amino_acid_sequence
MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQLEKLPMRPRDRSRVIDAAKHAHKFCNTEDEETMYLRRPEGIERQYRKKCAKCGLPLFYQSQPKNAPVTFIVDGAVVKFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVSTIDEEEEEIEAREVADSYAQNAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLIDNQFK
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 107 (XLID107) [MIM:301013]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:29374277}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport (PubMed:32690950). Promotes endoplasmic reticulum (ER) exit of cGAMP-activated STING1 oligomers (PubMed:32690950, PubMed:37832545). {ECO:0000269|PubMed:32690950, ECO:0000269|PubMed:37832545}.
uniprot
proteins
mass_dalton
25625
uniprot
proteins
mutagenesis
MUTAGEN 149..178; /note="KDMGKFSSVTVSTIDEEEEEIEAREVADSY->ADMAKFSSVTVSTIDEEAEAIEAREVADSA: Abrogates interaction with STING1 and impairs STING1-mediated signaling."; /evidence="ECO:0000269|PubMed:32690950
uniprot
proteins
protein_family
STEEP1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
29374277
uniprot
proteins
pubmed
32690950
uniprot
proteins
pubmed
32929276
uniprot
proteins
pubmed
37832545
uniprot
proteins
sequence_length
222
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32690950}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:32690950}; Peripheral membrane protein {ECO:0000269|PubMed:32690950}; Cytoplasmic side {ECO:0000269|PubMed:32690950}. Nucleus {ECO:0000269|PubMed:29374277, ECO:0000269|PubMed:32690950}. Note=Recruited to the endoplasmic reticulum following interaction with phosphorylated STING1. {ECO:0000269|PubMed:37832545}.
uniprot
proteins