1. Gene
  2. ESPL1 - extra spindle pole bodies like 1, separase Gene

ESPL1 - extra spindle pole bodies like 1, separase Gene

中文名称:额外的纺锤体样 1,分离酶

种属: Homo sapiens

同用名: ESP1; SEPA

基因 ID: 9700 | 基因类型: protein coding

关于 ESPL1

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,268,299-53,293,638 (from NCBI)

This gene has 8 transcripts (splice variants) and 187 orthologues. Biased expression in esophagus (RPKM 7.6), testis (RPKM 5.7) and 12 other tissues.

功能概要

姐妹染色单体在后期之前的稳定凝聚以及它们在后期的及时分离对于染色体遗传至关重要。在脊椎动物中,姐妹染色单体的凝聚通过不同的机制分两步释放。第一步涉及 cohesin 复合物中 STAG1 (MIM 604358) 或 STAG2 (MIM 300826) 的磷酸化。第二步涉及 ESPL1 或分离酶对粘连蛋白亚基 SCC1 (RAD21;MIM 606462) 的切割,这会启动姐妹染色单体的最终分离 (Sun 等人,2009 [PubMed 19345191]) 。[OMIM 提供,2010 年 11 月] ]

Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or Separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]

ESPL1 基因产物(1)

mRNA Protein Name
NM_012291.5 NP_036423.4 separin

ESPL1 蛋白结构

Peptidase_C50

Peptidase_C50: Peptidase family C50 (1718 - 2069)

  • 0
  • 400
  • 800
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  • 1600
  • 2000
  • 2120 a.a.
蛋白主名 其他名称

separin

caspase-like protein ESPL1

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

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

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 ESPL1 VGNC VGNC:28603
Canis familiaris ESPL1 VGNC VGNC:40475
Mus musculus ESPL1 MGD MGI:2146156
Rattus norvegicus ESPL1 RGD RGD:1306266
Macaca mulatta ESPL1 VGNC VGNC:72282
Felis catus ESPL1 VGNC VGNC:61963