1. Gene
  2. TRIP12 - thyroid hormone receptor interactor 12 Gene

TRIP12 - thyroid hormone receptor interactor 12 Gene

中文名称:甲状腺激素受体相互作用因子 12

种属: Homo sapiens

同用名: ULF; MRD49; TRIPC; TRIP-12

基因 ID: 9320 | 基因类型: protein coding

关于 TRIP12

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:229,763,837-229,923,186 (from NCBI)

This gene has 30 transcripts (splice variants), 215 orthologues, 24 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 48.5), thyroid (RPKM 17.6) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种 E3 泛素蛋白连接酶,参与肿瘤抑制因子 CDKN2A 的 p19ARF/ARF 亚型的降解。编码的蛋白质还通过调节 USP7 的稳定性在 DNA 损伤反应中发挥作用,USP7 调节肿瘤抑制因子 p53。[RefSeq 提供,2017 年 1 月]

The protein encoded by this gene is an E3 ubiquitin-protein Ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]

TRIP12 基因产物(26)

mRNA Protein Name
NM_001284214.2 NP_001271143.1 E3 ubiquitin-protein ligase TRIP12 isoform a
NM_001284215.2 NP_001271144.1 E3 ubiquitin-protein ligase TRIP12 isoform b
NM_001284216.2 NP_001271145.1 E3 ubiquitin-protein ligase TRIP12 isoform d
NM_001348315.2 NP_001335244.1 E3 ubiquitin-protein ligase TRIP12 isoform a
NM_001348316.2 NP_001335245.1 E3 ubiquitin-protein ligase TRIP12 isoform b
NM_001348317.1 NP_001335246.1 E3 ubiquitin-protein ligase TRIP12 isoform e
NM_001348318.2 NP_001335247.1 E3 ubiquitin-protein ligase TRIP12 isoform e
NM_001348319.1 NP_001335248.1 E3 ubiquitin-protein ligase TRIP12 isoform f
NM_001348320.2 NP_001335249.1 E3 ubiquitin-protein ligase TRIP12 isoform f
NM_001348321.1 NP_001335250.1 E3 ubiquitin-protein ligase TRIP12 isoform g
NM_001348322.1 NP_001335251.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348323.3 NP_001335252.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348324.2 NP_001335253.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348325.2 NP_001335254.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348326.2 NP_001335255.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348327.2 NP_001335256.1 E3 ubiquitin-protein ligase TRIP12 isoform h
NM_001348328.1 NP_001335257.1 E3 ubiquitin-protein ligase TRIP12 isoform i
NM_001348329.2 NP_001335258.1 E3 ubiquitin-protein ligase TRIP12 isoform i
NM_001348330.2 NP_001335259.1 E3 ubiquitin-protein ligase TRIP12 isoform i
NM_001348331.1 NP_001335260.1 E3 ubiquitin-protein ligase TRIP12 isoform j
NM_001348332.1 NP_001335261.1 E3 ubiquitin-protein ligase TRIP12 isoform k
NM_001348333.1 NP_001335262.1 E3 ubiquitin-protein ligase TRIP12 isoform l
NM_001348334.1 NP_001335263.1 E3 ubiquitin-protein ligase TRIP12 isoform n
NM_001348335.2 NP_001335264.1 E3 ubiquitin-protein ligase TRIP12 isoform m
NM_001348336.1 NP_001335265.1 E3 ubiquitin-protein ligase TRIP12 isoform m
NM_004238.3 NP_004229.1 E3 ubiquitin-protein ligase TRIP12 isoform c
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables nuclear thyroid hormone receptor binding IDA
IDA: 通过直接分析推断
7776974 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18627766 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
18627766 GOA
enables ubiquitin protein ligase activity IMP
IMP: 通过突变表型推断
19028681 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair-dependent chromatin remodeling IMP
IMP: 通过突变表型推断
22884692 GOA
involved in heterochromatin boundary formation IMP
IMP: 通过突变表型推断
22884692 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
30982744 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
18627766 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
19028681 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleoplasm IDA
IDA: 通过直接分析推断
20208519 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

TRIP12 蛋白结构

HECT

HECT: HECT-domain (ubiquitin-transferase) (1637 - 1992)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1992 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase TRIP12

E3 ubiquitin-protein ligase for Arf

TRIP12 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
TRIP12 Q14669 MTNR1B Homo sapiens P49286
Y2H
26514267
种属内
TRIP12 Q14669 NPM1 Homo sapiens P06748-1 20208519
种属内
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
种属内
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
种属内
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
种属内
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
种属内
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
种属内
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
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
Clark-Baraitser Syndrome

CLABARS

Baraitser Syndrome

Autosomal Dominant Intellectual Disability 49

Mental Retardation, Autosomal Dominant 49, Formerly

Mrd49, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 49

Autosomal Dominant Mental Retardation 49

Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

Mrd49

Progeria Short Stature Pigmented Nevi

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Developmental And Epileptic Encephalopathy 17

DEE17

Epileptic Encephalopathy, Early Infantile, 17

Eiee17

Developmental And Epileptic Encephalopathy, 17

Early Infantile Epileptic Encephalopathy 17

Developmental And Epileptic Encephalopathy, Type 17

Thyroid Dyshormonogenesis 1

TDH1

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1

Genetic Defect In Thyroid Hormonogenesis 1

Thyroid Hormonogenesis, Genetic Defect In, 1

Iodine Accumulation, Transport, Or Trapping Defect

Iodide Accumulation, Transport, Or Trapping Defect

Chdh1

Congenital Hypothyroidism Due To Dyshormonogenesis Type 1

Iodine Accumulation, Transport Or Trapping Defect

Alternating Exotropia

Exotropia

Anal Squamous Cell Carcinoma

Epidermoid Anal Carcinoma

Carcinoma Of Anal Margin

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta TRIP12 VGNC VGNC:99414
Rattus norvegicus TRIP12 RGD RGD:1306607
Mus musculus TRIP12 MGD MGI:1309481
Canis familiaris TRIP12 VGNC VGNC:47845
Bos taurus TRIP12 VGNC VGNC:36358
Felis catus TRIP12 VGNC VGNC:66560