TRAPPC4
entrez
51399
canonical
uniprot
Q9Y296
canonical
ensembl
ENSG00000196655
resolver
ensembl
ENSG00000280495
resolver
ensp
ENSP00000351896
resolver
ensp
ENSP00000405033
resolver
ensp
ENSP00000435339
resolver
ensp
ENSP00000436005
resolver
ensp
ENSP00000436827
resolver
ensp
ENSP00000485724
resolver
ensp
ENSP00000486097
resolver
ensp
ENSP00000486853
resolver
enst
ENST00000359005
resolver
enst
ENST00000525303
resolver
enst
ENST00000528230
resolver
enst
ENST00000625526
resolver
enst
ENST00000627703
resolver
enst
ENST00000630169
resolver
genesymbol
TRAPPC4
resolver
genesymbol_syn
SBDN
resolver
hgnc
HGNC:19943
resolver
uniprot
A8K3A5
resolver
uniprot
B4DF86
resolver
uniprot
B4DME1
resolver
uniprot
E9PKS9
resolver
uniprot
E9PQE8
resolver
uniprot
J3KP27
resolver
uniprot_entry
B4DF86_HUMAN
resolver
uniprot_entry
E9PKS9_HUMAN
resolver
uniprot_entry
E9PQE8_HUMAN
resolver
uniprot_entry
J3KP27_HUMAN
resolver
uniprot_entry
TPPC4_HUMAN
resolver
uniprot_sec
A8K3A5
resolver
uniprot_sec
B4DME1
resolver
amino_acid_sequence
MAIFSVYVVNKAGGLIYQLDSYAPRAEAEKTFSYPLDLLLKLHDERVLVAFGQRDGIRVGHAVLAINGMDVNGRYTADGKEVLEYLGNPANYPVSIRFGRPRLTSNEKLMLASMFHSLFAIGSQLSPEQGSSGIEMLETDTFKLHCYQTLTGIKFVVLADPRQAGIDSLLRKIYEIYSDFALKNPFYSLEMPIRCELFDQNLKLALEVAEKAGTFGPGS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) [MIM:618741]: An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur. {ECO:0000269|PubMed:31794024}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity). {ECO:0000250|UniProtKB:Q9ES56, ECO:0000269|PubMed:31794024, ECO:0000305|PubMed:31794024}.
uniprot
proteins
mass_dalton
24340
uniprot
proteins
protein_family
TRAPP small subunits family
uniprot
proteins
protein_family
TRAPPC4 subfamily
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11805826
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19416478
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21525244
uniprot
proteins
pubmed
31794024
uniprot
proteins
sequence_length
219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9ES56}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9ES56}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q9ES56}. Vesicle {ECO:0000250|UniProtKB:Q9ES56}. Note=Associated with postsynaptic membranes and in intracellular cisterns and vesicles (Golgi). {ECO:0000250|UniProtKB:Q9ES56}.
uniprot
proteins