2. Gene
  3. OTUD6B - OTU deubiquitinase 6B Gene

OTUD6B - OTU deubiquitinase 6B 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 6B

种属: Homo sapiens

同用名: DUBA5; CGI-77; DUBA-5; IDDFSDA

基因 ID: 51633 | 基因类型: protein coding

关于 OTUD6B

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,070,344-91,087,093 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.6) and 25 other tissues.

功能概要

该基因编码含有卵巢肿瘤结构域 (OTU) 的去泛素化酶亚家族的成员。去泛素化酶主要参与从目标降解的蛋白质中去除泛素。该蛋白可能作为 B 细胞细胞周期的负调节剂发挥作用。[RefSeq 提供，2013 年 11 月]

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating Enzymes. Deubiquitinating Enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

OTUD6B 基因产物(2)

mRNA Protein Name
NM_001286745.3 NP_001273674.1 deubiquitinase OTUD6B isoform 2
NM_016023.5 NP_057107.4 deubiquitinase OTUD6B isoform 1
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 cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
21267069 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell population proliferation IDA
IDA: 通过直接分析推断
27864334 GOA
involved in negative regulation of translation IMP
IMP: 通过突变表型推断
27864334 GOA
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
27864334 GOA
involved in proteasome assembly IMP
IMP: 通过突变表型推断
28343629 GOA
involved in protein deubiquitination IDA
IDA: 通过直接分析推断
21267069 GOA
involved in protein deubiquitination IMP
IMP: 通过突变表型推断
27864334 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of eukaryotic translation initiation factor 4F complex IDA
IDA: 通过直接分析推断
27864334 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

OTUD6B 蛋白结构

OTU

OTU: OTU-like cysteine protease (52 - 177)

  • 0
  • 100
  • 192 a.a.
蛋白主名 其他名称

deubiquitinase OTUD6B

OTU domain containing 6B

OTUD6B 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
OTUD6B Q8N6M0 OTUB1 Homo sapiens Q96FW1
Alpha-Screen
33421002
种属内
OTUD6B Q8N6M0 OTUB1 Homo sapiens Q96FW1
Anti Tag CoIP
33421002
种属内
OTUD6B Q8N6M0 BTBD1 Homo sapiens Q9H0C5
Anti Tag CoIP
28514442
种属内
OTUD6B Q8N6M0 BTBD1 Homo sapiens Q9H0C5
Anti Tag CoIP
33961781
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
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies

IDDFSDA

Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Retinitis Pigmentosa 88

RP88

Retinitis Pigmentosa, Type 88
Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Syndromic Intellectual Disability
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-RS09875 OTUD6B Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus OTUD6B MGD MGI:1919451
Felis catus OTUD6B VGNC VGNC:81704
Rattus norvegicus OTUD6B RGD RGD:1310024
Macaca mulatta OTUD6B VGNC VGNC:82085
Bos taurus OTUD6B VGNC VGNC:32498
Canis familiaris OTUD6B VGNC VGNC:44189
Others OTUD6B NCBI
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