OTUD7A - OTU deubiquitinase 7A Gene

Homo sapiens

Also known as OTUD7; C15orf16; C16ORF15; CEZANNE2

Gene ID: 161725 | Gene type: protein coding

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	Reference	Source
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	23827681	GOA

Biological Process GO Annotation	Evidence	Reference	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

OTU

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09876	OTUD7A Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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