TRAPPC12
entrez
51112
canonical
uniprot
Q8WVT3
canonical
ensembl
ENSG00000171853
resolver
ensembl
ENSG00000274891
resolver
ensp
ENSP00000324318
resolver
ensp
ENSP00000371544
resolver
ensp
ENSP00000488507
resolver
ensp
ENSP00000528141
resolver
ensp
ENSP00000528142
resolver
ensp
ENSP00000605284
resolver
ensp
ENSP00000605285
resolver
ensp
ENSP00000698591
resolver
ensp
ENSP00000788003
resolver
ensp
ENSP00000788004
resolver
ensp
ENSP00000793693
resolver
enst
ENST00000324266
resolver
enst
ENST00000382110
resolver
enst
ENST00000631737
resolver
enst
ENST00000935225
resolver
enst
ENST00000935226
resolver
genesymbol
TRAPPC12
resolver
genesymbol_syn
TRAMM
resolver
genesymbol_syn
TTC15
resolver
hgnc
HGNC:24284
resolver
uniprot
A0A0J9YXQ9
resolver
uniprot
B3KV01
resolver
uniprot
D6W4Y2
resolver
uniprot
Q8WVW1
resolver
uniprot
Q9Y395
resolver
uniprot_entry
A0A0J9YXQ9_HUMAN
resolver
uniprot_entry
TPC12_HUMAN
resolver
uniprot_sec
B3KV01
resolver
uniprot_sec
D6W4Y2
resolver
uniprot_sec
Q8WVW1
resolver
uniprot_sec
Q9Y395
resolver
amino_acid_sequence
MEDAGGGEETPAPEAPHPPQLAPPEEQGLLFQEETIDLGGDEFGSEENETASEGSSPLADKLNEHMMESVLISDSPNSEGDAGDLGRVRDEAEPGGEGDPGPEPAGTPSPSGEADGDCAPEDAAPSSGGAPRQDAAREVPGSEAARPEQEPPVAEPVPVCTIFSQRAPPASGDGFEPQMVKSPSFGGASEASARTPPQVVQPSPSLSTFFGDTAASHSLASDFFDSFTTSAFISVSNPGAGSPAPASPPPLAVPGTEGRPEPVAMRGPQAAAPPASPEPFAHIQAVFAGSDDPFATALSMSEMDRRNDAWLPGEATRGVLRAVATQQRGAVFVDKENLTMPGLRFDNIQGDAVKDLMLRFLGEKAAAKRQVLNADSVEQSFVGLKQLISCRNWRAAVDLCGRLLTAHGQGYGKSGLLTSHTTDSLQLWFVRLALLVKLGLFQNAEMEFEPFGNLDQPDLYYEYYPHVYPGRRGSMVPFSMRILHAELQQYLGNPQESLDRLHKVKTVCSKILANLEQGLAEDGGMSSVTQEGRQASIRLWRSRLGRVMYSMANCLLLMKDYVLAVEAYHSVIKYYPEQEPQLLSGIGRISLQIGDIKTAEKYFQDVEKVTQKLDGLQGKIMVLMNSAFLHLGQNNFAEAHRFFTEILRMDPRNAVANNNAAVCLLYLGKLKDSLRQLEAMVQQDPRHYLHESVLFNLTTMYELESSRSMQKKQALLEAVAGKEGDSFNTQCLKLA
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) [MIM:617669]: An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. {ECO:0000269|PubMed:28777934}. Note=The disease is caused by variants affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934). {ECO:0000269|PubMed:28777934}.
uniprot
proteins
function
FUNCTION: Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224). {ECO:0000269|PubMed:21525244, ECO:0000269|PubMed:25918224, ECO:0000269|PubMed:28777934}.
uniprot
proteins
mass_dalton
79375
uniprot
proteins
post_translational_modification
PTM: Phosphorylated as the cells enter mitosis but is dephosphorylated at or before the onset of anaphase. The phosphorylated form recruits CENPE to kinetochores more efficiently than the non-phosphorylated form. {ECO:0000269|PubMed:25918224}.
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21525244
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25918224
uniprot
proteins
pubmed
28777934
uniprot
proteins
sequence_length
735
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:21525244}. Nucleus {ECO:0000269|PubMed:25918224}. Note=Mainly localizes to structures resembling the Golgi and a small amount is found in the nucleus. {ECO:0000269|PubMed:25918224}.
uniprot
proteins