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  2. UBQLN4 - ubiquilin 4 Gene

UBQLN4 - ubiquilin 4 Gene

中文名称:泛素 4

种属: Homo sapiens

同用名: A1U; A1Up; UBIN; CIP75; C1orf6

基因 ID: 56893 | 基因类型: protein coding

关于 UBQLN4

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,031,247-156,053,798 (from NCBI)

This gene has 3 transcripts (splice variants), 235 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 15.5), endometrium (RPKM 13.7) and 25 other tissues.

功能概要

启用 K48 连接的多聚泛素修饰依赖性蛋白结合活性和相同的蛋白结合活性。参与细胞对 DNA 损伤刺激的反应;通过同源重组负调控双链断裂修复;和调节细胞分解代谢过程。位于多种细胞成分中,包括自噬体;核质;和 DNA 损伤部位。部分含蛋白质复合物。与细胞溶质蛋白酶体复合物和核蛋白酶体复合物共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables K48-linked polyubiquitin modification-dependent protein binding activity and identical protein binding activity. Involved in cellular response to DNA damage stimulus; negative regulation of double-strand break repair via homologous recombination; and regulation of cellular catabolic process. Located in several cellular components, including autophagosome; nucleoplasm; and site of DNA damage. Part of protein-containing complex. Colocalizes with cytosolic Proteasome complex and nuclear Proteasome complex. [provided by Alliance of Genome Resources, Apr 2022]

UBQLN4 基因产物(2)

mRNA Protein Name
NM_001304342.2 NP_001291271.1 ubiquilin-4 isoform 2
NM_020131.5 NP_064516.2 ubiquilin-4 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 K48-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
29666234 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
11001934 GOA
enables polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
15280365 GOA
enables polyubiquitin modification-dependent protein binding IPI
IPI: 通过物理相互作用推断
29666234 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11001934 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in autophagosome IDA
IDA: 通过直接分析推断
23459205 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11001934 GOA
located in cytosol IDA
IDA: 通过直接分析推断
29666234 GOA
part of cytosolic proteasome complex IDA
IDA: 通过直接分析推断
15280365 GOA
part of nuclear proteasome complex IDA
IDA: 通过直接分析推断
15280365 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11001934 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
29666234 GOA
located in site of DNA damage IDA
IDA: 通过直接分析推断
30612738 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

UBQLN4 蛋白结构

ubiquitin

ubiquitin: Ubiquitin family (32 - 84)

UBA

UBA: UBA/TS-N domain (560 - 595)

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

ubiquilin-4

ataxin-1 interacting ubiquitin-like protein

UBQLN4 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
Intra UBQLN4 Q9NRR5 PDLIM7 Homo sapiens Q9NR12
Pull Down
16713569
Intra UBQLN4 Q9NRR5 UBQLN1 Homo sapiens Q9UMX0
Anti Tag CoIP
23459205
Intra UBQLN4 Q9NRR5 UBQLN4 Homo sapiens Q9NRR5
Y2H
11001934
Intra UBQLN4 Q9NRR5 MAP1LC3A Homo sapiens Q9H492
Anti Tag CoIP
23459205
Intra UBQLN4 Q9NRR5 UBQLN4 Homo sapiens Q9NRR5
Anti Tag CoIP
23459205
Intra UBQLN4 Q9NRR5 UBQLN1 Homo sapiens Q9UMX0
Confocal
23459205
Intra UBQLN4 Q9NRR5 UBQLN4 Homo sapiens Q9NRR5
Y2H
16713569
Intra UBQLN4 Q9NRR5 UBQLN1 Homo sapiens Q9UMX0
Anti Bait CoIP
23459205
Intra UBQLN4 Q9NRR5 ATXN1 Homo sapiens P54253
Y2H
11001934
Intra UBQLN4 Q9NRR5 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
16713569
Intra UBQLN4 Q9NRR5 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra UBQLN4 Q9NRR5 UBQLN1 Homo sapiens Q9UMX0
Y2H
16713569
Intra UBQLN4 Q9NRR5 ATXN1 Homo sapiens P54253
IF
11001934
Intra UBQLN4 Q9NRR5 FKBP2 Homo sapiens P26885
Pull Down
16713569
Intra UBQLN4 Q9NRR5 TRIM32 Homo sapiens Q13049
Y2H Array
16713569
Intra UBQLN4 Q9NRR5 RAI2 Homo sapiens Q9Y5P3
Y2H Array
16713569
Intra UBQLN4 Q9NRR5 RAI2 Homo sapiens Q9Y5P3
Y2H
16713569
Intra UBQLN4 Q9NRR5 ZNF205 Homo sapiens O95201
Pull Down
16713569
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
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Mumps

Parotitis Due To Mumps Virus

Mumps Nos

Epidemic Parotitis

Infectious Parotitis

Arthrogryposis, Distal, Type 1b

DA1B

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1b

Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities

Spinal Muscular Atrophy, X-Linked 2

SMAX2

Arthrogryposis Multiplex Congenita, Distal, X-Linked

Infantile-Onset X-Linked Spinal Muscular Atrophy

Xlsma

Amcx1

Spinal Muscular Atrophy, X-Linked Lethal Infantile

Spinal Muscular Atrophy, Infantile X-Linked

Amc, Distal, X-Linked

Spinal Muscular Atrophy, X-Linked 2, Infantile

X-Linked Spinal Muscular Atrophy 2

Spinal Muscular Atrophy With Arthrogryposis

X-Linked Distal Arthrogryposis Multiplex Congenita

X-Linked Spinal Muscular Atrophy Type 2

Xl-Sma

Arthrogryposis, X-Linked, Type I

Spinal Muscular Atrophy, X-Linked Infantile

X-Linked Infantile Spinal Muscular Atrophy

Arthrogryposis, X-Lined, Type I

Distal X-Linked Amc

Infantile X-Linked Sma

X-Linked Arthrogryposis Multiplex Congenita

X-Linked Arthrogryposis Type I

X-Linked Lethal Infantile Sma

Arthrogryposis Spinal Muscular Atrophy

Spinal Muscular Atrophy X-Linked 2

Amc Distal X-Linked

Arthrogryposis Multiplex Congenita Distal X-Linked

Arthrogryposis X-Linked Type I

Spinal Muscular Atrophy Infantile X-Linked

Spinal Muscular Atrophy X-Linked Lethal Infantile

Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile

Brown-Vialetto-Van Laere Syndrome
Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus UBQLN4 RGD RGD:1308273
Mus musculus UBQLN4 MGD MGI:2150152
Macaca mulatta UBQLN4 VGNC VGNC:100182
Bos taurus UBQLN4 VGNC VGNC:55694
Felis catus UBQLN4 VGNC VGNC:66783
Canis familiaris UBQLN4 VGNC VGNC:48087