RUSC2
entrez
9853
canonical
uniprot
Q8N2Y8
canonical
ensembl
ENSG00000198853
resolver
ensp
ENSP00000355177
resolver
ensp
ENSP00000393922
resolver
ensp
ENSP00000537009
resolver
ensp
ENSP00000537010
resolver
enst
ENST00000361226
resolver
enst
ENST00000455600
resolver
enst
ENST00000866950
resolver
enst
ENST00000866951
resolver
genesymbol
RUSC2
resolver
genesymbol_syn
KIAA0375
resolver
hgnc
HGNC:23625
resolver
uniprot
A2RU62
resolver
uniprot
A7E2A9
resolver
uniprot
O15080
resolver
uniprot
Q5W134
resolver
uniprot
Q641Q6
resolver
uniprot
Q6P1W7
resolver
uniprot_entry
RUSC2_HUMAN
resolver
uniprot_sec
A2RU62
resolver
uniprot_sec
A7E2A9
resolver
uniprot_sec
O15080
resolver
uniprot_sec
Q5W134
resolver
uniprot_sec
Q641Q6
resolver
uniprot_sec
Q6P1W7
resolver
amino_acid_sequence
MDSPPKLTGETLIVHHIPLVHCQVPDRQCCGGAGGGGGSTRPNPFCPPELGITQPDQDLGQADSLLFSSLHSTPGGTARSIDSTKSRSRDGRGPGAPKRHNPFLLQEGVGEPGLGDLYDDSIGDSATQQSFHLHGTGQPNFHLSSFQLPPSGPRVGRPWGTTRSRAGVVEGQEQEPVMTLDTQQCGTSHCCRPELEAETMELDECGGPGGSGSGGGASDTSGFSFDQEWKLSSDESPRNPGCSGSGDQHCRCSSTSSQSEAADQSMGYVSDSSCNSSDGVLVTFSTLYNKMHGTPRANLNSAPQSCSDSSFCSHSDPGAFYLDLQPSPFESKMSYESHHPESGGREGGYGCPHASSPELDANCNSYRPHCEPCPAVADLTACFQSQARLVVATQNYYKLVTCDLSSQSSPSPAGSSITSCSEEHTKISPPPGPGPDPGPSQPSEYYLFQKPEVQPEEQEAVSSSTQAAAAVGPTVLEGQVYTNTSPPNLSTGRQRSRSYDRSLQRSPPVRLGSLERMLSCPVRLSEGPAAMAGPGSPPRRVTSFAELAKGRKKTGGSGSPPLRVSVGDSSQEFSPIQEAQQDRGAPLDEGTCCSHSLPPMPLGPGMDLLGPDPSPPWSTQVCQGPHSSEMPPAGLRATGQGPLAQLMDPGPALPGSPANSHTQRDARARADGGGTESRPVLRYSKEQRPTTLPIQPFVFQHHFPKQLAKARALHSLSQLYSLSGCSRTQQPAPLAAPAAQVSVPAPSGEPQASTPRATGRGARKAGSEPETSRPSPLGSYSPIRSVGPFGPSTDSSASTSCSPPPEQPTATESLPPWSHSCPSAVRPATSQQPQKEDQKILTLTEYRLHGTGSLPPLGSWRSGLSRAESLARGGGEGSMATRPSNANHLSPQALKWREYRRKNPLGPPGLSGSLDRRSQEARLARRNPIFEFPGSLSAASHLNCRLNGQAVKPLPLTCPDFQDPFSLTEKPPAEFCLSPDGSSEAISIDLLQKKGLVKAVNIAVDLIVAHFGTSRDPGVKAKLGNSSVSPNVGHLVLKYLCPAVRAVLEDGLKAFVLDVIIGQRKNMPWSVVEASTQLGPSTKVLHGLYNKVSQFPELTSHTMRFNAFILGLLNIRSLEFWFNHLYNHEDIIQTHYQPWGFLSAAHTVCPGLFEELLLLLQPLALLPFSLDLLFQHRLLQSGQQQRQHKELLRVSQDLLLSAHSTLQLARARGQEGPGDVDRAAQGERVKGVGASEGGEEEEEEEETEEVAEAAGGSGRARWARGGQAGWWYQLMQSSQVYIDGSIEGSRFPRGSSNSSSEKKKGAGGGGPPQAPPPREGVVEGAEACPASEEALGRERGWPFWMGSPPDSVLAELRRSREREGPAASPAENEEGASEPSPGGIKWGHLFGSRKAQREARPTNRLPSDWLSLDKSMFQLVAQTVGSRREPEPKESLQEPHSPALPSSPPCEVQALCHHLATGPGQLSFHKGDILRVLGRAGGDWLRCSRGPDSGLVPLAYVTLTPTPSPTPGSSQN
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 61 (MRT61) [MIM:617773]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. {ECO:0000269|PubMed:27612186}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. {ECO:0000269|PubMed:30262884}.
uniprot
proteins
mass_dalton
161225
uniprot
proteins
mutagenesis
MUTAGEN 1005; /note="D->A: Decreased interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1015; /note="R->K: Strong decrease in interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1119; /note="E->A: Loss of interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1119; /note="E->K: Loss of interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1155; /note="E->A: Loss of interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1158; /note="L->A: Loss of interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672"; MUTAGEN 1161; /note="Q->A: Decreased interaction with RAB35."; /evidence="ECO:0000269|PubMed:30905672
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15796781
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27612186
uniprot
proteins
pubmed
30262884
uniprot
proteins
pubmed
30905672
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1516
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15796781}. Cell membrane {ECO:0000269|PubMed:30905672}. Note=Cytosolic punctate distribution. Also observed in the perinuclear region. Colocalizes with RAB35 at the membrane protrusions of HEK293T cells (PubMed:30905672). {ECO:0000269|PubMed:15796781, ECO:0000269|PubMed:30905672}.
uniprot
proteins