2. Gene
  3. ZNHIT3 - zinc finger HIT-type containing 3 Gene

ZNHIT3 - zinc finger HIT-type containing 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含锌指 HIT 型 3

种属: Homo sapiens

同用名: Hit1; PEHO; TRIP3

基因 ID: 9326 | 基因类型: protein coding

关于 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.

功能概要

预测可启用甲状腺激素受体结合活性。预计参与 box C/D snoRNP 组装； LSU-rRNA 从三顺反子 rRNA 转录本 (SSU-rRNA、5.8S rRNA、LSU-rRNA) 成熟；和 snoRNA 定位。位于细胞质和细胞核中。与 PEHO 综合征有关。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25170085 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
28335020 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28335020 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ZNHIT3 蛋白结构

zf-HIT

zf-HIT: HIT zinc finger (9 - 36)

  • 0
  • 100
  • 155 a.a.
蛋白主名 其他名称

zinc finger HIT domain-containing protein 3

HNF-4a coactivator

ZNHIT3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ZNHIT3 Q15649 NUFIP1 Homo sapiens Q9UHK0
Y2H Prey Pooling
32296183
种属内
ZNHIT3 Q15649 NUFIP1 Homo sapiens Q9UHK0
Validated Y2H
32296183
种属内
ZNHIT3 Q15649 NUFIP1 Homo sapiens Q9UHK0
Anti Tag CoIP
28514442
种属内
ZNHIT3 Q15649 NUFIP1 Homo sapiens Q9UHK0
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS16182 ZNHIT3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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