GORAB
entrez
92344
canonical
uniprot
Q5T7V8
canonical
ensembl
ENSG00000120370
resolver
ensp
ENSP00000356736
resolver
ensp
ENSP00000356737
resolver
ensp
ENSP00000510426
resolver
enst
ENST00000688688
resolver
genesymbol
GORAB
resolver
genesymbol_syn
NTKLBP1
resolver
genesymbol_syn
SCYL1BP1
resolver
hgnc
HGNC:25676
resolver
uniprot
A0A8I5KW31
resolver
uniprot
B3KQ87
resolver
uniprot
Q49A22
resolver
uniprot
Q6P1P9
resolver
uniprot
Q9HAE6
resolver
uniprot
Q9Y350
resolver
uniprot_entry
A0A8I5KW31_HUMAN
resolver
uniprot_entry
B3KQ87_HUMAN
resolver
uniprot_entry
GORAB_HUMAN
resolver
uniprot_sec
Q49A22
resolver
uniprot_sec
Q6P1P9
resolver
uniprot_sec
Q9HAE6
resolver
uniprot_sec
Q9Y350
resolver
amino_acid_sequence
MAQGWAGFSEEELRRLKQTKDPFEPQRRLPAKKSRQQLQREKALVEQSQKLGLQDGSTSLLPEQLLSAPKQRVNVQKPPFSSPTLPSHFTLTSPVGDGQPQGIESQPKELGLENSHDGHNNVEILPPKPDCKLEKKKVELQEKSRWEVLQQEQRLMEEKNKRKKALLAKAIAERSKRTQAETMKLKRIQKELQALDDMVSADIGILRNRIDQASLDYSYARKRFDRAEAEYIAAKLDIQRKTEIKEQLTEHLCTIIQQNELRKAKKLEELMQQLDVEADEETLELEVEVERLLHEQEVESRRPVVRLERPFQPAEESVTLEFAKENRKCQEQAVSPKVDDQCGNSSSIPFLSPNCPNQEGNDISAALAT
uniprot
proteins
disease_involvement
DISEASE: Geroderma osteodysplasticum (GO) [MIM:231070]: A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. {ECO:0000269|PubMed:18997784}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the organization and function of the Golgi apparatus. Involved in protein post-translational modification, particularly glycosylation of extracellular matrix proteins. Functions at the trans-Golgi by cooperating with SCYL1 to promote COPI coat assembly into discrete functional domains, supporting Golgi organization and trafficking. {ECO:0000269|PubMed:30631079}.
uniprot
proteins
mass_dalton
42266
uniprot
proteins
mutagenesis
MUTAGEN 175; /note="S->F: Displaced from the Golgi compartment to vesicular structures and selectively impaired ARF5 binding."; /evidence="ECO:0000269|PubMed:26000619"; MUTAGEN 220; /note="A->P: Cytoplasmic distribution and loss of interaction with both RAB6 and ARF5."; /evidence="ECO:0000269|PubMed:26000619
uniprot
proteins
protein_family
GORAB family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15781263
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18997784
uniprot
proteins
pubmed
26000619
uniprot
proteins
pubmed
30631079
uniprot
proteins
sequence_length
369
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15781263}. Golgi apparatus {ECO:0000269|PubMed:18997784}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:26000619}.
uniprot
proteins