Entity Details

Primary name TRAF7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6Q0C0
EntryNameTRAF7_HUMAN
FullNameE3 ubiquitin-protein ligase TRAF7
TaxID9606
Evidenceevidence at protein level
Length670
SequenceStatuscomplete
DateCreated2004-10-11
DateModified2021-06-02

Ontological Relatives

GenesTRAF7

GO terms

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GOName
GO:0000027 ribosomal large subunit assembly
GO:0000151 ubiquitin ligase complex
GO:0000185 obsolete activation of MAPKKK activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005730 nucleolus
GO:0005886 plasma membrane
GO:0006915 apoptotic process
GO:0007219 Notch signaling pathway
GO:0008270 zinc ion binding
GO:0016567 protein ubiquitination
GO:0031410 cytoplasmic vesicle
GO:0043231 intracellular membrane-bounded organelle
GO:0043410 positive regulation of MAPK cascade
GO:0070372 regulation of ERK1 and ERK2 cascade
GO:2001235 positive regulation of apoptotic signaling pathway

Subcellular Location

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Subcellular Location
Cytoplasmic vesicle

Domains

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DomainNameCategoryType
IPR001293 Zinc finger, TRAF-typeDomainDomain
IPR001680 WD40 repeatRepeatRepeat
IPR001841 Zinc finger, RING-typeDomainDomain
IPR008974 TRAF-likeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR017907 Zinc finger, RING-type, conserved siteSiteConserved site
IPR019775 WD40 repeat, conserved siteSiteConserved site
IPR020472 G-protein beta WD-40 repeatRepeatRepeat
IPR027370 RING-type zinc-finger, LisH dimerisation motifDomainDomain
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618164 OMIMCardiac, facial, and digital anomalies with developmental delay (CAFDADD)An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears. The disease is caused by variants affecting the gene represented in this entry.