TRIP12 - thyroid hormone receptor interactor 12 Gene

Also Known as ULF; MRD49; TRIPC; TRIP-12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9320

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables nuclear thyroid hormone receptor binding IDA
IDA: Inferred from direct assay
7776974 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18627766 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
18627766 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
19028681 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA repair-dependent chromatin remodeling IMP
IMP: Inferred from mutant phenotype
22884692 GOA
involved in heterochromatin boundary formation IMP
IMP: Inferred from mutant phenotype
22884692 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
30982744 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
18627766 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
19028681 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleoplasm IDA
IDA: Inferred from direct assay
20208519 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

TRIP12 Protein Structure

HECT

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

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1992 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase TRIP12

  • E3 ubiquitin-protein ligase for Arf

TRIP12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TRIP12 Q14669 MTNR1B Homo sapiens P49286
Y2H
26514267
Intra
TRIP12 Q14669 NPM1 Homo sapiens P06748-1 20208519
Intra
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
Intra
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
Intra
TRIP12 Q14669 MYC Homo sapiens P01106 20208519
Intra
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
Intra
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
Intra
TRIP12 Q14669 CDKN2A Homo sapiens Q8N726 20208519
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others TRIP12 NCBI