Entity Details

Primary name ZNHI3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15649
EntryNameZNHI3_HUMAN
FullNameZinc finger HIT domain-containing protein 3
TaxID9606
Evidenceevidence at protein level
Length155
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesZNHIT3

GO terms

Show/Hide Table
GOName
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0000492 box C/D snoRNP assembly
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0046966 thyroid hormone receptor binding
GO:0048254 snoRNA localization
GO:0070761 pre-snoRNP complex

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR007529 Zinc finger, HIT-typeDomainDomain
IPR040197 Zinc finger HIT domain-containing protein 3FamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
260565 OMIMPEHO syndrome (PEHO)An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe mental retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death. The disease is caused by variants affecting the gene represented in this entry.