SGSM3
entrez
27352
canonical
uniprot
Q96HU1
canonical
ensembl
ENSG00000100359
resolver
ensp
ENSP00000248929
resolver
ensp
ENSP00000521506
resolver
ensp
ENSP00000521511
resolver
ensp
ENSP00000626327
resolver
ensp
ENSP00000788139
resolver
ensp
ENSP00000788140
resolver
genesymbol
RUTBC3
resolver
genesymbol
SGSM3
resolver
genesymbol_syn
MAP
resolver
genesymbol_syn
RABGAPLP
resolver
genesymbol_syn
RUTBC3
resolver
hgnc
HGNC:25228
resolver
uniprot
B0QY79
resolver
uniprot
B4DVE3
resolver
uniprot
B9A6J5
resolver
uniprot
Q7Z709
resolver
uniprot
Q9NT69
resolver
uniprot_entry
B4DVE3_HUMAN
resolver
uniprot_entry
B9A6J5_HUMAN
resolver
uniprot_entry
SGSM3_HUMAN
resolver
uniprot_sec
B0QY79
resolver
uniprot_sec
Q7Z709
resolver
uniprot_sec
Q9NT69
resolver
amino_acid_sequence
MSGSHTPACGPFSALTPSIWPQEILAKYTQKEESAEQPEFYYDEFGFRVYKEEGDEPGSSLLANSPLMEDAPQRLRWQAHLEFTHNHDVGDLTWDKIAVSLPRSEKLRSLVLAGIPHGMRPQLWMRLSGALQKKRNSELSYREIVKNSSNDETIAAKQIEKDLLRTMPSNACFASMGSIGVPRLRRVLRALAWLYPEIGYCQGTGMVAACLLLFLEEEDAFWMMSAIIEDLLPASYFSTTLLGVQTDQRVLRHLIVQYLPRLDKLLQEHDIELSLITLHWFLTAFASVVDIKLLLRIWDLFFYEGSRVLFQLTLGMLHLKEEELIQSENSASIFNTLSDIPSQMEDAELLLGVAMRLAGSLTDVAVETQRRKHLAYLIADQGQLLGAGTLTNLSQVVRRRTQRRKSTITALLFGEDDLEALKAKNIKQTELVADLREAILRVARHFQCTDPKNCSVELTPDYSMESHQRDHENYVACSRSHRRRAKALLDFERHDDDELGFRKNDIITIVSQKDEHCWVGELNGLRGWFPAKFVEVLDERSKEYSIAGDDSVTEGVTDLVRGTLCPALKALFEHGLKKPSLLGGACHPWLFIEEAAGREVERDFASVYSRLVLCKTFRLDEDGKVLTPEELLYRAVQSVNVTHDAVHAQMDVKLRSLICVGLNEQVLHLWLEVLCSSLPTVEKWYQPWSFLRSPGWVQIKCELRVLCCFAFSLSQDWELPAKREAQQPLKEGVRDMLVKHHLFSWDVDG
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 84 (MRT84) [MIM:620401]: An autosomal recessive disorder characterized by mild to moderate intellectual disability, and mild global developmental delay. Additional features include hypotonia, facial dysmorphism, short stature, and, in some patients, atypical behavior. {ECO:0000269|PubMed:37833060, ECO:0000269|PubMed:39390489}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: GTPase-activating protein (GAP) specific for Rab5 small GTPase for which it accelerates the intrinsic GTP hydrolysis rate, thereby controlling trafficking through the early endocytic pathway (PubMed:16086013, PubMed:17562788). May play a cooperative role in NF2-mediated growth suppression of cells. {ECO:0000269|PubMed:15541357, ECO:0000269|PubMed:16086013, ECO:0000269|PubMed:17562788}.
uniprot
proteins
mass_dalton
85354
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="R->A: Decreased GAP activity towards RAB5B."; /evidence="ECO:0000269|PubMed:16086013
uniprot
proteins
protein_family
Small G protein signaling modulator family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15541357
uniprot
proteins
pubmed
15849434
uniprot
proteins
pubmed
16086013
uniprot
proteins
pubmed
17509819
uniprot
proteins
pubmed
17562788
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
37833060
uniprot
proteins
pubmed
39390489
uniprot
proteins
sequence_length
749
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15849434}.
uniprot
proteins