2. Gene
  3. OTUD7A - OTU deubiquitinase 7A Gene

OTUD7A - OTU deubiquitinase 7A Gene

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

中文名称：OTU 去泛素化酶 7A

种属: Homo sapiens

同用名: OTUD7; C15orf16; C16ORF15; CEZANNE2

基因 ID: 161725 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种去泛素化酶和可能的肿瘤抑制因子。编码的蛋白质作用于 TNF 受体相关因子 6 (TRAF6) ，以控制核因子 kappa B 的表达。然而，该基因在肝细胞癌细胞中被 SNAIL1 下调，导致其进展和恶性化。[RefSeq 提供，2016 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
23827681 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein K11-linked deubiquitination IDA
IDA: 通过直接分析推断
23827681 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

OTUD7A 蛋白结构

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.
蛋白主名 其他名称

OTU domain-containing protein 7A

OTU domain-containing 7A

关联疾病

疾病名称 别名
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]
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-RS09876 OTUD7A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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