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Protein

Trafficking protein particle complex subunit 12

Gene

TRAPPC12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).3 Publications

GO - Molecular functioni

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • Golgi organization Source: UniProtKB
  • metaphase plate congression Source: UniProtKB
  • positive regulation of protein localization to kinetochore Source: UniProtKB
  • protein complex oligomerization Source: UniProtKB
  • regulation of kinetochore assembly Source: UniProtKB

Keywordsi

Biological processER-Golgi transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Names & Taxonomyi

Protein namesi
Recommended name:
Trafficking protein particle complex subunit 12Curated
Alternative name(s):
Tetratricopeptide repeat protein 151 Publication
Short name:
TPR repeat protein 151 Publication
Short name:
TTC-151 Publication
Trafficking of membranes and mitosis1 Publication
Gene namesi
Name:TRAPPC12Imported
Synonyms:TRAMM1 Publication, TTC151 Publication
ORF Names:CGI-871 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000171853.15
HGNCiHGNC:24284 TRAPPC12
MIMi614139 gene
neXtProtiNX_Q8WVT3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934).1 Publication
Disease descriptionAn autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss.
See also OMIM:617669
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080390627A → V in PEBAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768950892EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi51112
MalaCardsiTRAPPC12
MIMi617669 phenotype
OpenTargetsiENSG00000171853
PharmGKBiPA134944710

Polymorphism and mutation databases

BioMutaiTRAPPC12
DMDMi116242834

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001064011 – 735Trafficking protein particle complex subunit 12Add BLAST735

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei109PhosphoserineBy similarity1
Modified residuei184PhosphoserineCombined sources1

Post-translational modificationi

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.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8WVT3
MaxQBiQ8WVT3
PaxDbiQ8WVT3
PeptideAtlasiQ8WVT3
PRIDEiQ8WVT3
ProteomicsDBi74819

PTM databases

iPTMnetiQ8WVT3
PhosphoSitePlusiQ8WVT3

Expressioni

Gene expression databases

BgeeiENSG00000171853
CleanExiHS_TTC15
ExpressionAtlasiQ8WVT3 baseline and differential
GenevisibleiQ8WVT3 HS

Organism-specific databases

HPAiHPA034799

Interactioni

Subunit structurei

Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12 (PubMed:21525244). Interacts with CENPE (PubMed:25918224).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119301, 31 interactors
CORUMiQ8WVT3
DIPiDIP-48283N
IntActiQ8WVT3, 8 interactors
STRINGi9606.ENSP00000324318

Structurei

3D structure databases

ProteinModelPortaliQ8WVT3
SMRiQ8WVT3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati545 – 578TPR 1Add BLAST34
Repeati580 – 613TPR 2Add BLAST34
Repeati620 – 653TPR 3Add BLAST34
Repeati654 – 687TPR 4Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG2796 Eukaryota
ENOG410XSX3 LUCA
GeneTreeiENSGT00390000002448
HOGENOMiHOG000154703
HOVERGENiHBG068968
InParanoidiQ8WVT3
KOiK20309
OMAiSQMVKSP
OrthoDBiEOG091G0BUP
PhylomeDBiQ8WVT3
TreeFamiTF320881

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
SMARTiView protein in SMART
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 4 hits
PS50293 TPR_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

Q8WVT3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEDAGGGEET PAPEAPHPPQ LAPPEEQGLL FQEETIDLGG DEFGSEENET
60 70 80 90 100
ASEGSSPLAD KLNEHMMESV LISDSPNSEG DAGDLGRVRD EAEPGGEGDP
110 120 130 140 150
GPEPAGTPSP SGEADGDCAP EDAAPSSGGA PRQDAAREVP GSEAARPEQE
160 170 180 190 200
PPVAEPVPVC TIFSQRAPPA SGDGFEPQMV KSPSFGGASE ASARTPPQVV
210 220 230 240 250
QPSPSLSTFF GDTAASHSLA SDFFDSFTTS AFISVSNPGA GSPAPASPPP
260 270 280 290 300
LAVPGTEGRP EPVAMRGPQA AAPPASPEPF AHIQAVFAGS DDPFATALSM
310 320 330 340 350
SEMDRRNDAW LPGEATRGVL RAVATQQRGA VFVDKENLTM PGLRFDNIQG
360 370 380 390 400
DAVKDLMLRF LGEKAAAKRQ VLNADSVEQS FVGLKQLISC RNWRAAVDLC
410 420 430 440 450
GRLLTAHGQG YGKSGLLTSH TTDSLQLWFV RLALLVKLGL FQNAEMEFEP
460 470 480 490 500
FGNLDQPDLY YEYYPHVYPG RRGSMVPFSM RILHAELQQY LGNPQESLDR
510 520 530 540 550
LHKVKTVCSK ILANLEQGLA EDGGMSSVTQ EGRQASIRLW RSRLGRVMYS
560 570 580 590 600
MANCLLLMKD YVLAVEAYHS VIKYYPEQEP QLLSGIGRIS LQIGDIKTAE
610 620 630 640 650
KYFQDVEKVT QKLDGLQGKI MVLMNSAFLH LGQNNFAEAH RFFTEILRMD
660 670 680 690 700
PRNAVANNNA AVCLLYLGKL KDSLRQLEAM VQQDPRHYLH ESVLFNLTTM
710 720 730
YELESSRSMQ KKQALLEAVA GKEGDSFNTQ CLKLA
Length:735
Mass (Da):79,375
Last modified:October 17, 2006 - v3
Checksum:iB844FB3749866E3F
GO

Sequence cautioni

The sequence AAD34082 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti451F → V in AAD34082 (PubMed:10810093).Curated1
Sequence conflicti486E → D in AAD34082 (PubMed:10810093).Curated1
Sequence conflicti566E → D in AAH14164 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028442301S → G1 PublicationCorresponds to variant dbSNP:rs11686212Ensembl.1
Natural variantiVAR_080390627A → V in PEBAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768950892EnsemblClinVar.1
Natural variantiVAR_035869717E → Q in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK098327 mRNA Translation: BAG53613.1
CH471053 Genomic DNA Translation: EAX01067.1
CH471053 Genomic DNA Translation: EAX01068.1
BC014164 mRNA Translation: AAH14164.2
BC017475 mRNA Translation: AAH17475.2
AF151845 mRNA Translation: AAD34082.1 Different initiation.
CCDSiCCDS1652.1
RefSeqiNP_001308031.1, NM_001321102.1
NP_057114.5, NM_016030.5
UniGeneiHs.252713
Hs.661278

Genome annotation databases

EnsembliENST00000324266; ENSP00000324318; ENSG00000171853
ENST00000382110; ENSP00000371544; ENSG00000171853
GeneIDi51112
KEGGihsa:51112
UCSCiuc002qxm.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTPC12_HUMAN
AccessioniPrimary (citable) accession number: Q8WVT3
Secondary accession number(s): B3KV01
, D6W4Y2, Q8WVW1, Q9Y395
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 139 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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