TRAPPC10
entrez
7109
canonical
uniprot
P48553
canonical
ensembl
ENSG00000160218
resolver
ensp
ENSP00000291574
resolver
ensp
ENSP00000557633
resolver
ensp
ENSP00000557635
resolver
ensp
ENSP00000585134
resolver
ensp
ENSP00000784182
resolver
genesymbol
TRAPPC10
resolver
genesymbol_syn
EHOC1
resolver
genesymbol_syn
TMEM1
resolver
hgnc
HGNC:11868
resolver
uniprot
Q3MIR2
resolver
uniprot
Q86SI7
resolver
uniprot
Q9UMD4
resolver
uniprot
Q9Y4L3
resolver
uniprot_entry
TPC10_HUMAN
resolver
uniprot_sec
Q3MIR2
resolver
uniprot_sec
Q86SI7
resolver
uniprot_sec
Q9UMD4
resolver
uniprot_sec
Q9Y4L3
resolver
amino_acid_sequence
MDASEEPLPPVIYTMENKPIVTCAGDQNLFTSVYPTLSQQLPREPMEWRRSYGRAPKMIHLESNFVQFKEELLPKEGNKALLTFPFLHIYWTECCDTEVYKATVKDDLTKWQNVLKAHSSVDWLIVIVENDAKKKNKTNILPRTSIVDKIRNDFCNKQSDRCVVLSDPLKDSSRTQESWNAFLTKLRTLLLMSFTKNLGKFEDDMRTLREKRTEPGWSFCEYFMVQEELAFVFEMLQQFEDALVQYDELDALFSQYVVNFGAGDGANWLTFFCQPVKSWNGLILRKPIDMEKRESIQRREATLLDLRSYLFSRQCTLLLFLQRPWEVAQRALELLHNCVQELKLLEVSVPPGALDCWVFLSCLEVLQRIEGCCDRAQIDSNIAHTVGLWSYATEKLKSLGYLCGLVSEKGPNSEDLNRTVDLLAGLGAERPETANTAQSPYKKLKEALSSVEAFEKHYLDLSHATIEMYTSIGRIRSAKFVGKDLAEFYMRKKAPQKAEIYLQGALKNYLAEGWALPITHTRKQLAECQKHLGQIENYLQTSSLLASDHHLTEEERKHFCQEILDFASQPSDSPGHKIVLPMHSFAQLRDLHFDPSNAVVHVGGVLCVEITMYSQMPVPVHVEQIVVNVHFSIEKNSYRKTAEWLTKHKTSNGIINFPPETAPFPVSQNSLPALELYEMFERSPSDNSLNTTGIICRNVHMLLRRQESSSSLEMPSGVALEEGAHVLRCSHVTLEPGANQITFRTQAKEPGTYTLRQLCASVGSVWFVLPHIYPIVQYDVYSQEPQLHVEPLADSLLAGIPQRVKFTVTTGHYTIKNGDSLQLSNAEAMLILCQAESRAVVYSNTREQSSEAALRIQSSDKVTSISLPVAPAYHVIEFELEVLSLPSAPALGGESDMLGMAEPHRKHKDKQRTGRCMVTTDHKVSIDCPWSIYSTVIALTFSVPFRTTHSLLSSGTRKYVQVCVQNLSELDFQLSDSYLVDTGDSTDLQLVPLNTQSQQPIYSKQSVFFVWELKWTEEPPPSLHCRFSVGFSPASEEQLSISLKPYTYEFKVENFFTLYNVKAEIFPPSGMEYCRTGSLCSLEVLITRLSDLLEVDKDEALTESDEHFSTKLMYEVVDNSSNWAVCGKSCGVISMPVAARATHRVHMEVMPLFAGYLPLPDVRLFKYLPHHSAHSSQLDADSWIENDSLSVDKHGDDQPDSSSLKSRGSVHSACSSEHKGLPMPRLQALPAGQVFNSSSGTQVLVIPSQDDHVLEVSVT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, short stature, and speech delay (NEDMISS) [MIM:620027]: An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior. {ECO:0000269|PubMed:30167849, ECO:0000269|PubMed:35298461}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. {ECO:0000269|PubMed:11805826, ECO:0000269|PubMed:31467083, ECO:0000269|PubMed:35298461}.
uniprot
proteins
mass_dalton
142189
uniprot
proteins
protein_family
TRAPPC10 family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11805826
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21525244
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30167849
uniprot
proteins
pubmed
31467083
uniprot
proteins
pubmed
35298461
uniprot
proteins
pubmed
7633421
uniprot
proteins
pubmed
9196060
uniprot
proteins
pubmed
9370297
uniprot
proteins
sequence_length
1259
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000250}.
uniprot
proteins