1. Gene
  2. SMC5 - structural maintenance of chromosomes 5 Gene

SMC5 - structural maintenance of chromosomes 5 Gene

中文名称:5 号染色体的结构维护

种属: Homo sapiens

同用名: SMC5L1

基因 ID: 23137 | 基因类型: protein coding

关于 SMC5

Cytogenetic location: 9q21.12 Genomic coordinates (GRCh38): 9:70,258,978-70,354,873 (from NCBI)

This gene has 4 transcripts (splice variants), 120 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 12.4), lymph node (RPKM 10.1) and 25 other tissues.

功能概要

预测启用 ATP 绑定活动。涉及多个过程,包括 DNA 重组;细胞衰老;和维持有丝分裂姐妹染色单体内聚力的正调控。位于细胞连接处;染色体;和核体。 Smc5-Smc6 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ATP binding activity. Involved in several processes, including DNA recombination; cellular senescence; and positive regulation of maintenance of mitotic sister chromatid cohesion. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022]

SMC5 基因产物(1)

mRNA Protein Name
NM_015110.4 NP_055925.2 structural maintenance of chromosomes protein 5
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 DNA secondary structure binding IDA
IDA: 通过直接分析推断
28095508 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11408570 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
17589526 GOA
part of Smc5-Smc6 complex IDA
IDA: 通过直接分析推断
18086888 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
17589526 GOA
located in interchromatin granule IDA
IDA: 通过直接分析推断
11408570 GOA
is active in nucleus IDA
IDA: 通过直接分析推断
28095508 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11408570 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
25931565 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

SMC5 蛋白结构

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (53 - 1053)

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  • 1000
  • 1101 a.a.
蛋白主名 其他名称

structural maintenance of chromosomes protein 5

SMC protein 5

关联疾病

疾病名称 别名
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
Rattus norvegicus SMC5 RGD RGD:1307492
Bos taurus SMC5 VGNC VGNC:35002
Canis familiaris SMC5 VGNC VGNC:46546
Felis catus SMC5 VGNC VGNC:65479
Mus musculus SMC5 MGD MGI:2385088