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  2. ARSI - arylsulfatase family member I Gene

ARSI - arylsulfatase family member I Gene

中文名称:芳基硫酸酯酶家族成员 I

种属: Homo sapiens

同用名: ASI; SPG66

基因 ID: 340075 | 基因类型: protein coding

关于 ARSI

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:150,296,343-150,302,905 (from NCBI)

This gene has 3 transcripts (splice variants), 212 orthologues, 16 paralogues and is associated with 1 phenotype. Broad expression in skin (RPKM 1.9), placenta (RPKM 1.8) and 20 other tissues.

功能概要

该基因编码的蛋白质属于一大类硫酸酯酶,可水解硫酸酯和氨基磺酸盐。这个家族的成员在几个细胞过程中发挥作用,包括激素合成、大分子发育和降解中的细胞信号传导。该基因编码的蛋白质被认为是分泌型的,并在细胞外空间发挥作用。[RefSeq 提供,2016 年 7 月]

This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]

ARSI 基因产物(1)

mRNA Protein Name
NM_001012301.4 NP_001012301.1 arylsulfatase I precursor
基因本体论
  • 分子功能
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
25416956 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

ARSI 蛋白结构

Sulfatase

Sulfatase: Sulfatase (47 - 359)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 569 a.a.
蛋白主名 其他名称

arylsulfatase I

ARSI 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
Intra ARSI Q5FYB1 KRT40 Homo sapiens Q6A162
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Autosomal Recessive Spastic Paraplegia Type 66

Spg66

Spastic Paraplegia 63, Autosomal Recessive

SPG63

Hereditary Spastic Paraplegia 63

Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia Type 63

Paraplegia, Spastic, Type 63, Autosomal Recessive

Noonan Syndrome 8

NS8

Noonan Syndrome, Type 8

Spastic Paraplegia 78, Autosomal Recessive

SPG78

Autosomal Recessive Spastic Paraplegia Type 78

Hereditary Spastic Paraplegia 78

Spastic Paraplegia 78 Autosomal Recessive

Doid:0112348

Gastric Dilatation

Stomach Dilatation

Alternating Exotropia

Exotropia

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron 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
Mus musculus ARSI MGD MGI:2670959
Rattus norvegicus ARSI RGD RGD:1310242
Canis familiaris ARSI VGNC VGNC:38144
Macaca mulatta ARSI VGNC VGNC:69937
Bos taurus ARSI VGNC VGNC:26177
Felis catus ARSI VGNC VGNC:59948