1. Gene
  2. SMC4 - structural maintenance of chromosomes 4 Gene

SMC4 - structural maintenance of chromosomes 4 Gene

中文名称:4 号染色体的结构维护

种属: Homo sapiens

同用名: CAPC; CAP-C; SMC-4; SMC4L1

基因 ID: 10051 | 基因类型: protein coding

关于 SMC4

Cytogenetic location: 3q25.33 Genomic coordinates (GRCh38): 3:160,399,650-160,434,953 (from NCBI)

This gene has 27 transcripts (splice variants), 214 orthologues and 7 paralogues. Broad expression in testis (RPKM 22.9), bone marrow (RPKM 22.6) and 24 other tissues.

功能概要

该基因属于“染色体结构维护” (SMC) 基因家族。该基因家族的成员在染色体有丝分裂分离过程中染色体结构的两个变化中发挥作用——染色体浓缩和姐妹染色单体内聚。由该基因编码的蛋白质可能是 13S 凝聚素复合体的一个亚基,它参与染色体凝聚。与该基因相关的假基因位于 2 号染色体上。[RefSeq 提供,2016 年 6 月]

This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]

SMC4 基因产物(3)

mRNA Protein Name
NM_001002800.3 NP_001002800.1 structural maintenance of chromosomes protein 4 isoform 1
NM_001288753.2 NP_001275682.1 structural maintenance of chromosomes protein 4 isoform 2
NM_005496.3 NP_005487.3 structural maintenance of chromosomes protein 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 protein binding IPI
IPI: 通过物理相互作用推断
9789013 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic chromosome condensation IDA
IDA: 通过直接分析推断
11136719 GOA
involved in positive regulation of chromosome condensation IDA
IDA: 通过直接分析推断
17268547 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of condensin complex IDA
IDA: 通过直接分析推断
9789013 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

SMC4 蛋白结构

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (83 - 1270)

SMC_hinge

SMC_hinge: SMC proteins Flexible Hinge Domain (613 - 728)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1288 a.a.
蛋白主名 其他名称

structural maintenance of chromosomes protein 4

SMC protein 4

关联疾病

疾病名称 别名
Pleural Empyema

Empyema

Pyothorax

Empyema, Pleural

Abscess Of Pleural Cavity

Abscess Of Thorax

Empyema Of Pleura

Empyema Of Pleura Without Fistula

Empyema With Fistula

Empyema With No Fistula

Empyema With Pleural Fistula

Empyema Without Mention Of Fistula

Empyema, Chest

Lung Empyema

Pleural Empyema With Fistula

Pleural Empyema With No Fistula

Purulent Pleurisy

Purulent Pleuritis

Thorax Abscess

Pyopneumothorax

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Felis catus SMC4 VGNC VGNC:65478
Canis familiaris SMC4 VGNC VGNC:46545
Macaca mulatta SMC4 VGNC VGNC:77699
Mus musculus SMC4 MGD MGI:1917349
Rattus norvegicus SMC4 RGD RGD:1306680
Bos taurus SMC4 VGNC VGNC:35001