ZNHIT3 - zinc finger HIT-type containing 3 Gene

Homo sapiens

Also known as Hit1; PEHO; TRIP3

Gene ID: 9326 | Gene type: protein coding

About ZNHIT3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:36,486,681-36,499,312 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 193 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 10.5), testis (RPKM 10.1) and 25 other tissues.

Summary

Predicted to enable Thyroid Hormone Receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome. [provided by Alliance of Genome Resources, Apr 2022]

ZNHIT3 Products(4)

mRNA	Protein	Name
NM_001281432.2	NP_001268361.1	zinc finger HIT domain-containing protein 3 isoform 2
NM_001281433.2	NP_001268362.1	zinc finger HIT domain-containing protein 3 isoform 4
NM_001281434.2	NP_001268363.1	zinc finger HIT domain-containing protein 3 isoform 3
NM_004773.4	NP_004764.1	zinc finger HIT domain-containing protein 3 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25170085	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	28335020	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28335020	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZNHIT3 Protein Structure

zf-HIT

0
100
155 a.a.

Protein Preferred Names

Protein Names

zinc finger HIT domain-containing protein 3

HNF-4a coactivator

ZNHIT3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ZNHIT3	Q15649	NUFIP1	Homo sapiens	Q9UHK0	Y2H Prey Pooling	32296183
Intra	ZNHIT3	Q15649	NUFIP1	Homo sapiens	Q9UHK0	Validated Y2H	32296183
Intra	ZNHIT3	Q15649	NUFIP1	Homo sapiens	Q9UHK0	Anti Tag CoIP	28514442
Intra	ZNHIT3	Q15649	NUFIP1	Homo sapiens	Q9UHK0	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Chromosome 17q12 Deletion Syndrome

17q12 Microdeletion Syndrome	Del(17)(Q12)
Monosomy 17q12

Lipodystrophy, Familial Partial, Type 3

FPLD3	Pparg-Related Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Type 3	Familial Partial Lipodystrophy Associated With Pparg Mutations
Pparg-Related Fpld	Lipodystrophy, Familial Partial, Associated With Pparg Mutations
Insulin Resistance, Severe, Digenic	Lipodystrophy, Familial Partial, 3
Familial Partial Lipodystrophy, Type 3

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16182	ZNHIT3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ZNHIT3	RGD	RGD:1598226
Canis familiaris	ZNHIT3	VGNC	VGNC:48837
Mus musculus	ZNHIT3	MGD	MGI:3051596
Bos taurus	ZNHIT3	VGNC	VGNC:37360
Felis catus	ZNHIT3	VGNC	VGNC:67367

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