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  2. SAE1 - SUMO1 activating enzyme subunit 1 Gene

SAE1 - SUMO1 activating enzyme subunit 1 Gene

中文名称:SUMO1 激活酶亚基 1

种属: Homo sapiens

同用名: AOS1; SUA1; UBLE1A; HSPC140

基因 ID: 10055 | 基因类型: protein coding

关于 SAE1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,130,835-47,210,636 (from NCBI)

This gene has 14 transcripts (splice variants), 212 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 24.6), thyroid (RPKM 21.1) and 25 other tissues.

功能概要

通过添加小蛋白 SUMO (参见 SUMO1;MIM 601912) 或 sumoylation 对蛋白质进行翻译后修饰,调节蛋白质结构和细胞内定位。 SAE1 和 UBA2 (MIM 613295) 形成一个异二聚体,作为 SUMO 激活酶用于蛋白质的 SUMO 化 (Okuma 等人,1999 [PubMed 9920803]) 。[OMIM 提供,2010 年 3 月]

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating Enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

SAE1 基因产物(3)

mRNA Protein Name
NM_001145713.2 NP_001139185.1 SUMO-activating enzyme subunit 1 isoform b
NM_001145714.2 NP_001139186.1 SUMO-activating enzyme subunit 1 isoform c
NM_005500.3 NP_005491.1 SUMO-activating enzyme subunit 1 isoform a

SAE1 蛋白结构

ThiF

ThiF: ThiF family (35 - 165)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
蛋白主名 其他名称

SUMO-activating enzyme subunit 1

SUMO-1 activating enzyme E1 N subunit

重组 SAE1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71643 SAE1 Protein, Human (GST) Q9UBE0 (M1-K346) ≥95%

关联疾病

疾病名称 别名
Ogden Syndrome

OGDNS

N-Terminal Acetyltransferase Deficiency

NATD

N-Alpha-Acetyltransferase

X-Linked Malformation And Infantile Lethality Syndrome

Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome

Adult Dermatomyositis

Adult Onset Dermatomyositis

Adult Type Dermatomyositis

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Laryngeal Small Cell Carcinoma

Small Cell Carcinoma Of Larynx

Antisynthetase Syndrome

As Syndrome

Anti-Jo1 Syndrome

Childhood Type Dermatomyositis

Juvenile Dermatomyositis

Juvenile Dm

Childhood Dermatomyositis

Amyopathic Dermatomyositis

Adm

Dermatomyositis Sine Myositis

Dermatomyositis, Childhood Type

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
Mus musculus SAE1 MGD MGI:1929264
Bos taurus SAE1 VGNC VGNC:34261
Felis catus SAE1 VGNC VGNC:64853
Macaca mulatta SAE1 VGNC VGNC:103860
Canis familiaris SAE1 VGNC VGNC:45843
Rattus norvegicus SAE1 RGD RGD:1306098
Others SAE1 NCBI