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  2. CUL7 - cullin 7 Gene

CUL7 - cullin 7 Gene

中文名称:卡林 7

种属: Homo sapiens

同用名: 3M1; CUL-7; KIAA0076; dJ20C7.5

基因 ID: 9820 | 基因类型: protein coding

关于 CUL7

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,037,617-43,053,851 (from NCBI)

This gene has 19 transcripts (splice variants), 243 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是 E3 泛素-蛋白质连接酶复合物的组成部分。编码的蛋白质与 TP53、CUL9 和 FBXW8 蛋白质相互作用。该基因的缺陷是导致 3M 综合征 1 型 (3M1) 的原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2009 年 12 月]

The protein encoded by this gene is a component of an E3 ubiquitin-protein Ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

CUL7 基因产物(5)

mRNA Protein Name
NM_001168370.2 NP_001161842.2 cullin-7 isoform 1
NM_001374872.1 NP_001361801.1 cullin-7 isoform 1
NM_001374873.1 NP_001361802.1 cullin-7 isoform 3
NM_001374874.1 NP_001361803.1 cullin-7 isoform 4
NM_014780.5 NP_055595.2 cullin-7 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
17298945 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial to mesenchymal transition IDA
IDA: 通过直接分析推断
20139075 GOA
involved in microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
24793695 GOA
involved in mitotic cytokinesis IMP
IMP: 通过突变表型推断
24793695 GOA
involved in placenta development IDA
IDA: 通过直接分析推断
20139075 GOA
involved in positive regulation of dendrite morphogenesis IGI
IGI: 通过遗传相互作用推断
21572988 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
18498745 GOA
involved in regulation of mitotic nuclear division IMP
IMP: 通过突变表型推断
24793695 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 3M complex IDA
IDA: 通过直接分析推断
24793695 GOA
part of Cul7-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
18498745 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
21572988 GOA
located in centrosome IDA
IDA: 通过直接分析推断
24793695 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
24793695 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21572988 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

CUL7 蛋白结构

Cul7

Cul7: Mouse development and cellular proliferation protein Cullin-7 (360 - 434)

ANAPC10

ANAPC10: Anaphase-promoting complex, subunit 10 (APC10) (853 - 972)

Cullin

Cullin: Cullin family (1144 - 1538)

  • 0
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  • 1698 a.a.
蛋白主名 其他名称

cullin-7

CUL7 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
CUL7 Q14999 TP53 Homo sapiens P04637
NMR
17298945
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
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

Shox-Related Short Stature

Idiopathic Familial Short Stature

Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14

OI14

Osteogenesis Imperfecta Type Xiv

Oi, Type Xiv

Osteogenesis Imperfecta 14

Oi Type Xiv

Oi-Xiv

Chondrodysplasia, Blomstrand Type

Chondrodysplasia Blomstrand Type

BOCD

Blomstrand Lethal Chondrodysplasia

Blomstrand Lethal Osteochondrodysplasia

Blomstrand'S Lethal Chondrodysplasia

Blc

Blomstrand Chondrodysplasia

Blomstrand Osteochondrodysplasia

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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 CUL7 RGD RGD:1587048
Canis familiaris CUL7 VGNC VGNC:39734
Macaca mulatta CUL7 VGNC VGNC:71446
Mus musculus CUL7 MGD MGI:1913765
Bos taurus CUL7 VGNC VGNC:27835
Felis catus CUL7 VGNC VGNC:61287