Entity Details

Primary name TPC12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WVT3
EntryNameTPC12_HUMAN
FullNameTrafficking protein particle complex subunit 12
TaxID9606
Evidenceevidence at protein level
Length735
SequenceStatuscomplete
DateCreated2004-02-16
DateModified2021-06-02

Ontological Relatives

GenesTRAPPC12

GO terms

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GOName
GO:0000776 kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007030 Golgi organization
GO:0030008 TRAPP complex
GO:0051310 metaphase plate congression
GO:0090234 regulation of kinetochore assembly
GO:1905342 positive regulation of protein localization to kinetochore

Subcellular Location

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Subcellular Location
Endoplasmic reticulum-Golgi intermediate compartment
Nucleus

Domains

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DomainNameCategoryType
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
617669 OMIMEncephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS)An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. The disease is caused by variants affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934).