TRAPPC6B
entrez
122553
canonical
uniprot
Q86SZ2
canonical
ensembl
ENSG00000182400
resolver
ensp
ENSP00000330289
resolver
ensp
ENSP00000335171
resolver
genesymbol
TRAPPC6B
resolver
hgnc
HGNC:23066
resolver
uniprot
B3KPS2
resolver
uniprot
Q5JPD6
resolver
uniprot
Q86U35
resolver
uniprot
Q86X35
resolver
uniprot_entry
TPC6B_HUMAN
resolver
uniprot_sec
B3KPS2
resolver
uniprot_sec
Q5JPD6
resolver
uniprot_sec
Q86U35
resolver
uniprot_sec
Q86X35
resolver
amino_acid_sequence
MADEALFLLLHNEMVSGVYKSAEQGEVENGRCITKLENMGFRVGQGLIERFTKDTARFKDELDIMKFICKDFWTTVFKKQIDNLRTNHQGIYVLQDNKFRLLTQMSAGKQYLEHASKYLAFTCGLIRGGLSNLGIKSIVTAEVSSMPACKFQVMIQKL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) [MIM:617862]: An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy. {ECO:0000269|PubMed:28397838, ECO:0000269|PubMed:28626029}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable). {ECO:0000269|PubMed:16025134, ECO:0000269|PubMed:16828797, ECO:0000305|PubMed:28626029}.
uniprot
proteins
mass_dalton
17983
uniprot
proteins
mutagenesis
MUTAGEN 31..32; /note="RC->EL: Impairs interaction with TRAPPC1."; /evidence="ECO:0000269|PubMed:16828797
uniprot
proteins
protein_family
BET3 subfamily
uniprot
proteins
protein_family
TRAPP small subunits family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16025134
uniprot
proteins
pubmed
16828797
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
28397838
uniprot
proteins
pubmed
28626029
uniprot
proteins
sequence_length
158
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
uniprot
proteins