OTUD7A - OTU deubiquitinase 7A Gene

Also Known as OTUD7; C15orf16; C16ORF15; CEZANNE2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 161725

About OTUD7A

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:31,475,398-31,870,673 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 2.7), testis (RPKM 2.0) and 18 other tissues.

Summary

The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF Receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]

OTUD7A Products (3)

mRNA Protein Name
NM_001329907.2 NP_001316836.1 OTU domain-containing protein 7A isoform 2
NM_001382637.1 NP_001369566.1 OTU domain-containing protein 7A isoform 3
NM_130901.3 NP_570971.1 OTU domain-containing protein 7A isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
23827681 GOA
Biological Process GO Annotation Evidence References Source
involved in protein K11-linked deubiquitination IDA
IDA: Inferred from direct assay
23827681 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

OTUD7A Protein Structure

UBA_4

UBA_4: UBA-like domain (31 - 63)

OTU

OTU: OTU-like cysteine protease (205 - 368)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 926 a.a.
Protein Preferred Names Protein Names

OTU domain-containing protein 7A

  • OTU domain-containing 7A

Related Diseases

Diseases Alias
Speech And Communication Disorders

  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder
Specific Learning Disability

  • Specific Learning Difficulty

  • Specific Learning Disorder
Chromosome 15q13.3 Deletion Syndrome

  • Chromosome 15q13.3 Microdeletion Syndrome

  • 15q13.3 Microdeletion Syndrome

  • 15q13.3 Microdeletion

  • Microdeletion 15q13.3 Syndrome

  • Del(15)(Q13.3)

  • Monosomy 15q13.3
Schizophrenia 10

  • SCZD10

  • Schizophrenia Susceptibility Locus, Chromosome 15q15-Related

  • Catatonia, Periodic
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language

  • Chromosome 5q14.3 Deletion Syndrome

  • 5q14.3 Microdeletion Syndrome

  • Mental Retardation, Autosomal Dominant 20

  • NEDHSIL

  • Autosomal Dominant Mental Retardation 20

  • Mrd20

  • Del(5)(Q14.3)

  • Monosomy 5q14.3

  • Intellectual Disability, Autosomal Dominant 20

  • Mental Retardation, Autosomal Dominant 20, Formerly

  • Mrd20, Formerly

  • Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations

  • 5q14.3 Deletion Syndrome

  • Autosomal Dominant Intellectual Disability 20

  • Mental Retardation, Autosomal Dominant, Type 20
Interstitial Nephritis, Karyomegalic

  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn
Epilepsy, Idiopathic Generalized

  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Epilepsy, Myoclonic Juvenile

  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09876 OTUD7A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris OTUD7A VGNC VGNC:44190
Bos taurus OTUD7A VGNC VGNC:32499
Rattus norvegicus OTUD7A RGD RGD:1563721
Mus musculus OTUD7A MGD MGI:2158505
Felis catus OTUD7A VGNC VGNC:64002
Macaca mulatta OTUD7A VGNC VGNC:75660
Others OTUD7A NCBI