Entity Details

Primary name TPPC9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96Q05
EntryNameTPPC9_HUMAN
FullNameTrafficking protein particle complex subunit 9
TaxID9606
Evidenceevidence at protein level
Length1148
SequenceStatuscomplete
DateCreated2008-06-10
DateModified2021-06-02

Ontological Relatives

GenesTRAPPC9

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0021987 cerebral cortex development
GO:0030008 TRAPP complex
GO:0030182 neuron differentiation
GO:0048208 COPII vesicle coating
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Subcellular Location

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Subcellular Location
Cytoplasm
Endoplasmic reticulum
Golgi apparatus

Domains

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DomainNameCategoryType
IPR013935 TRAPP II complex, Trs120FamilyFamily

Diseases

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Disease IDSourceNameDescription
613192 OMIMMental retardation, autosomal recessive 13 (MRT13)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. The disease is caused by variants affecting the gene represented in this entry.