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  2. CUL4B - cullin 4B Gene

CUL4B - cullin 4B Gene

中文名称:库林 4B

种属: Homo sapiens

同用名: SFM2; MRXSC; CUL-4B; MRXHF2; MRXS15

基因 ID: 8450 | 基因类型: protein coding

关于 CUL4B

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:120,523,858-120,575,532 (from NCBI)

This gene has 40 transcripts (splice variants), 225 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 18.5), ovary (RPKM 14.3) and 25 other tissues.

功能概要

该基因是库林家族的成员。编码的蛋白质形成一个复合物,作为 E3 泛素连接酶发挥作用,并催化细胞中特定蛋白质底物的多聚泛素化。该蛋白质与无名指蛋白相互作用,并且是 DNA 复制的几种调节因子 (包括染色质许可和 DNA 复制因子 1 和细胞周期蛋白 E) 的蛋白水解所必需的。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin Ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CUL4B 基因产物(4)

mRNA Protein Name
NM_001079872.2 NP_001073341.1 cullin-4B isoform 2
NM_001330624.2 NP_001317553.1 cullin-4B isoform 3
NM_001369145.1 NP_001356074.1 cullin-4B isoform 4
NM_003588.4 NP_003579.3 cullin-4B 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
contributes to damaged DNA binding IDA
IDA: 通过直接分析推断
22334663 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12609982 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UV-damage excision repair IDA
IDA: 通过直接分析推断
22334663 GOA
acts upstream of or within proteasomal protein catabolic process IDA
IDA: 通过直接分析推断
25970626 GOA
acts upstream of or within proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
25970626 GOA
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
28437394 GOA
involved in ribosome biogenesis IMP
IMP: 通过突变表型推断
26711351 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul4-RING E3 ubiquitin ligase complex IDA
IDA: 通过直接分析推断
16949367 GOA
part of Cul4A-RING E3 ubiquitin ligase complex EXP
EXP: 通过实验结果推断
22118460 GOA
part of Cul4B-RING E3 ubiquitin ligase complex IDA
IDA: 通过直接分析推断
18794347 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

CUL4B 蛋白结构

Cullin

Cullin: Cullin family (217 - 815)

Cullin_Nedd8

Cullin_Nedd8: Cullin protein neddylation domain (843 - 907)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 913 a.a.
蛋白主名 其他名称

cullin-4B

CUL4B 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 CUL4B Q13620 ZMAT4 Homo sapiens Q9H898-2
Validated Y2H
25910212
Intra CUL4B Q13620 ZMAT4 Homo sapiens Q9H898-2
Y2H Array
25910212
Intra CUL4B Q13620 ZMAT4 Homo sapiens Q9H898-2
Y2H Bait-Prey Pool
25910212
Intra CUL4B Q13620 CDC37 Homo sapiens Q16543
Lumier
22939624
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
GMS
23238014
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Anti Tag CoIP
23238014
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Anti Tag CoIP
26496610
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Anti Tag CoIP
30945288
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Pull Down
23238014
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
TAP
21145461
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Anti Tag CoIP
33961781
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
CH-IP
23238014
Intra CUL4B Q13620 DDB1 Homo sapiens Q16531
Anti Bait CoIP
17041588
Intra CUL4B Q13620 HSP90AB1 Homo sapiens P08238
TAP
21145461
Intra CUL4B Q13620 HSP90AB1 Homo sapiens P08238
Lumier
22939624
Intra CUL4B Q13620 RBX1 Homo sapiens P62877
Affinity Chrom
12609982
Intra CUL4B Q13620 RBX1 Homo sapiens P62877
Anti Tag CoIP
23238014
Intra CUL4B Q13620 RBX1 Homo sapiens P62877
Anti Tag CoIP
30945288
Intra CUL4B Q13620 RBX1 Homo sapiens P62877
Anti Tag CoIP
26496610
Intra CUL4B Q13620 RBX1 Homo sapiens P62877
GMS
23238014
Intra CUL4B Q13620 CAND1 Homo sapiens Q86VP6
Anti Tag CoIP
26496610
Intra CUL4B Q13620 CAND1 Homo sapiens Q86VP6
TAP
21145461
Intra CUL4B Q13620 CAND1 Homo sapiens Q86VP6
Affinity Chrom
12609982
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, X-Linked, Syndromic, Cabezas Type

Cabezas Syndrome

Mental Retardation, X-Linked, Syndromic 15

MRXSC

Mrxs15

Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Mental Retardation, X-Linked, With Short Stature

Mrss

Cul4b-Related X-Linked Intellectual Disability

X-Linked Intellectual Disability, Cabezas Type

X-Linked Intellectual Disability Cabezas Type

Mental Retardation, X-Linked, Syndromic, Cabezas Type

Intellectual Developmental Disorder, X-Linked Syndromic, Cabezas Type

Cabezas Type Of X-Linked Syndromic Intellectual Disability

Intellectual Disability, X-Linked, Syndromic 15

Intellectual Deficit, X-Linked, Cabezas Type

Mrxhf2

Pettigrew Syndrome

PGS

Mrxs5

Mrx59

Mrxs21

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Mental Retardation, X-Linked, Syndromic 5

Mrxsf

Syndromic X-Linked Intellectual Disability 5

Fried Syndrome

Mental Retardation, X-Linked Syndromic 5

Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Syndromic X-Linked Mental Retardation Fried Type

X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures

X-Linked Syndromic Intellectual Disability 5

X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures

X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Mental Retardation, X-Linked Syndromic, Fried Type

Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked 59

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome

Syndromic X-Linked Mental Retardation 15

Mental Retardation, X-Linked, Syndromic 15

Mrss

Mrxs15

Mrxsc

X-Linked Mental Retardation With Short Stature

X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait

Mental Retardation, X-Linked, With Short Stature

Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Xeroderma Pigmentosum Group E

Xeroderma Pigmentosum, Group E

Xeroderma Pigmentosum V

Xp Group E

Xp5

Xpe

Xeroderma Pigmentosum, Complementation Group E

Scheuermann Disease

Scheuermann'S Disease

Spinal Osteochondrosis

Juvenile Osteochondrosis Of Spine

Familial Scheuermann Disease

Familial Scheuermann Juvenile Kyphosis

Familial Spinal Osteochondrosis

Scheuermann Juvenile Kyphosis

Juvenile Osteochondritis Of The Spine

Juvenile Osteochondrosis Of Scheurermann

Scheuermann'S Kyphosis

Sherman'S Disease

Juvenile Kyphosis

Scheuermann Kyphosis

[X]Spinal Osteochondrosis, Unspecified

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2

Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-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

直系同源

种属 基因名 来源 基因 ID
Bos taurus CUL4B VGNC VGNC:27833
Mus musculus CUL4B MGD MGI:1919834
Canis familiaris CUL4B VGNC VGNC:39732
Macaca mulatta CUL4B VGNC VGNC:71569
Felis catus CUL4B VGNC VGNC:61285
Rattus norvegicus CUL4B RGD RGD:1564494