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  3. SIAE - sialic acid acetylesterase Gene

SIAE - sialic acid acetylesterase Gene

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

中文名称：唾液酸乙酰酯酶

种属: Homo sapiens

同用名: LSE; AIS6; CSEC; YSG2; CSE-C

基因 ID: 54414 | 基因类型: protein coding

关于 SIAE

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:124,633,113-124,676,303 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Broad expression in colon (RPKM 39.1), thyroid (RPKM 19.2) and 21 other tissues.

功能概要

该基因编码一种酶，可去除唾液酸的 9-O-乙酰化修饰。该基因的突变与自身免疫性疾病 6 的易感性相关。已发现该基因存在编码不同亚型的多种转录变体，存在于胞质溶胶或溶酶体中。[RefSeq 提供，2011 年 2 月]

This gene encodes an Enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

SIAE 基因产物(2)

mRNA Protein Name
NM_001199922.2 NP_001186851.1 sialate O-acetylesterase isoform 2
NM_170601.5 NP_733746.1 sialate O-acetylesterase isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
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
33961781 GOA
enables sialate O-acetylesterase activity IDA
IDA: 通过直接分析推断
23308225 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate metabolic process IDA
IDA: 通过直接分析推断
23308225 GOA
involved in regulation of immune system process IMP
IMP: 通过突变表型推断
20555325 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

SIAE 蛋白结构

SASA

SASA: Carbohydrate esterase, sialic acid-specific acetylesterase (118 - 394)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 523 a.a.
蛋白主名 其他名称

sialate O-acetylesterase

H-Lse

SIAE 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SIAE Q9HAT2 FBXO2 Homo sapiens Q9UK22
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SIAE 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71309 SIAE Protein, Human (HEK293, His) Q9HAT2-1 (I24-K523) ≥95%
HY-P74548 SIAE Protein, Human (sf9, His) Q9HAT2-1 (I24-K523) ≥95%

关联疾病

疾病名称 别名
Autoimmune Disease 6

Autoimmune Disease, Susceptibility To, 6

AIS6

Autoimmune Disease Susceptibility 6

Autoimmune Disease, Susceptibility To, Type 6
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease
Sjogren Syndrome

Sicca Syndrome

Sjogren'S Syndrome

Sjögren Syndrome

Sjogren-Gougerot Syndrome

Keratoconjunctivitis Sicca

Sjögren'S Syndrome

Xerodermosteosis

Dacryosialoadenopathia Atrophicans

Gougerot-Houwer-Sjogren Syndrome

Gougerot-Sjogren Syndrome

Keratoconjunctivitis Sicca-Xerostomia

Secreto-Inhibitor-Xerodermostenosis

Primary Sjogren Syndrome

Primary Sjogren-Gougerot Syndrome

Sjogrens Syndrome Primary

Sjogrens Syndrome

Dry Eye Syndromes
Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis
Alcohol-Related Birth Defects

Arbd

Alcohol-Related Birth Defect

Alcohol Related Birth Defect

Fetal Alcohol Syndrome
Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe
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-RS12890 SIAE Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SIAE VGNC VGNC:46162
Macaca mulatta SIAE VGNC VGNC:77264
Rattus norvegicus SIAE RGD RGD:1310431
Bos taurus SIAE VGNC VGNC:34613
Mus musculus SIAE MGD MGI:104803
Others SIAE NCBI
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