2. Gene
  3. OTUD5 - OTU deubiquitinase 5 Gene

OTUD5 - OTU deubiquitinase 5 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 5

种属: Homo sapiens

同用名: DUBA; MCAND

基因 ID: 55593 | 基因类型: protein coding

关于 OTUD5

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,922,024-48,958,381 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 16.1), spleen (RPKM 14.4) and 25 other tissues.

功能概要

该基因编码含有 OTU (卵巢肿瘤) 结构域的半胱氨酸蛋白酶超家族成员。 OTU 结构域赋予去泛素化酶活性，并且已显示编码的蛋白质通过从必需的 I 型干扰素衔接蛋白上切割多聚泛素链来抑制 I 型干扰素依赖性先天免疫反应。切割导致衔接蛋白从下游信号复合物解离，并破坏 I 型干扰素信号级联。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 10 月]

This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers Deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]

OTUD5 基因产物(4)

mRNA Protein Name
NM_001136157.2 NP_001129629.1 OTU domain-containing protein 5 isoform b
NM_001136158.2 NP_001129630.1 OTU domain-containing protein 5 isoform b
NM_001136159.2 NP_001129631.1 OTU domain-containing protein 5 isoform c
NM_017602.4 NP_060072.1 OTU domain-containing protein 5 isoform a
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 K48-linked deubiquitinase activity IDA
IDA: 通过直接分析推断
22245969 GOA
enables K48-linked deubiquitinase activity IMP
IMP: 通过突变表型推断
33523931 GOA
enables K63-linked deubiquitinase activity EXP
EXP: 通过实验结果推断
17991829 GOA
enables K63-linked deubiquitinase activity IDA
IDA: 通过直接分析推断
22245969 GOA
enables K63-linked deubiquitinase activity IMP
IMP: 通过突变表型推断
33523931 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
22245969 GOA
enables deubiquitinase activity IDA
IDA: 通过直接分析推断
22245969 GOA
enables deubiquitinase activity IMP
IMP: 通过突变表型推断
33110214 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
33110214 GOA
involved in neural crest cell differentiation IMP
IMP: 通过突变表型推断
33523931 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
33110214 GOA
involved in positive regulation of TORC2 signaling IMP
IMP: 通过突变表型推断
33110214 GOA
involved in protein K48-linked deubiquitination IDA
IDA: 通过直接分析推断
22245969 GOA
involved in protein K48-linked deubiquitination IMP
IMP: 通过突变表型推断
33523931 GOA
involved in protein K63-linked deubiquitination IDA
IDA: 通过直接分析推断
22245969 GOA
involved in protein K63-linked deubiquitination IMP
IMP: 通过突变表型推断
33523931 GOA
acts upstream of or within protein deubiquitination IDA
IDA: 通过直接分析推断
22245969 GOA
involved in response to lipopolysaccharide IDA
IDA: 通过直接分析推断
22245969 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
33523931 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

OTUD5 蛋白结构

OTU

OTU: OTU-like cysteine protease (220 - 335)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 571 a.a.
蛋白主名 其他名称

OTU domain-containing protein 5

OTU domain containing 5

关联疾病

疾病名称 别名
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked

MCAND

Linked Syndrome

Linkage-Specific Deubiquitylation Deficiency-Induced Embryonic Defects
Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09874 OTUD5 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19225 Otud5 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25714 Otud5 Rat 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 OTUD5 MGD MGI:1859615
Canis familiaris OTUD5 VGNC VGNC:44187
Rattus norvegicus OTUD5 RGD RGD:1563027
Macaca mulatta OTUD5 VGNC VGNC:75677
Bos taurus OTUD5 VGNC VGNC:32496
Felis catus OTUD5 VGNC VGNC:64001
Others OTUD5 NCBI
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