2. Gene
  3. SMC1B - structural maintenance of chromosomes 1B Gene

SMC1B - structural maintenance of chromosomes 1B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：染色体 1B 的结构维护

种属: Homo sapiens

同用名: SMC1L2; SMC1BETA

基因 ID: 27127 | 基因类型: protein coding

关于 SMC1B

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:45,344,063-45,413,599 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues and 7 paralogues. Restricted expression toward testis (RPKM 20.7).

功能概要

SMC1L2 属于减数分裂和有丝分裂期间染色单体凝聚和 DNA 重组所需的蛋白质家族 (3：Revenkova 等人，2001 [PubMed 11564881]) 。[OMIM 提供，2008 年 3 月]

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]

SMC1B 基因产物(2)

mRNA Protein Name
NM_001291501.2 NP_001278430.1 structural maintenance of chromosomes protein 1B isoform 2
NM_148674.5 NP_683515.4 structural maintenance of chromosomes protein 1B isoform 1
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of meiotic cohesin complex IDA
IDA: 通过直接分析推断
21242291 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

SMC1B 蛋白结构

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (4 - 1203)

SMC_hinge

SMC_hinge: SMC proteins Flexible Hinge Domain (514 - 629)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1235 a.a.
蛋白主名 其他名称

structural maintenance of chromosomes protein 1B

SMC protein 1B

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
Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD
46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13417 SMC1B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SMC1B VGNC VGNC:77657
Mus musculus SMC1B MGD MGI:2154049
Bos taurus SMC1B VGNC VGNC:34998
Canis familiaris SMC1B VGNC VGNC:46542
Rattus norvegicus SMC1B RGD RGD:1308791
Felis catus SMC1B VGNC VGNC:65475
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