2. Gene
  3. NDST1 - N-deacetylase and N-sulfotransferase 1 Gene

NDST1 - N-deacetylase and N-sulfotransferase 1 Gene

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

中文名称：N-脱乙酰酶和 N-磺基转移酶 1

种属: Homo sapiens

同用名: HSST; NST1; MRT46

基因 ID: 3340 | 基因类型: protein coding

关于 NDST1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:150,497,779-150,558,211 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.3), lung (RPKM 12.2) and 25 other tissues.

功能概要

该基因编码硫酸乙酰肝素/肝素 GlcNAc N-脱乙酰酶/N-磺基转移酶家族的成员。编码的酶是存在于高尔基体中的 II 型跨膜蛋白。编码的蛋白质催化硫酸盐从 3'-磷酸腺苷 5'-磷酸盐转移到硫酸乙酰肝素中氨基葡萄糖的氮。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded Enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

NDST1 基因产物(2)

mRNA Protein Name
NM_001301063.2 NP_001287992.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2
NM_001543.5 NP_001534.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables [heparan sulfate]-glucosamine N-sulfotransferase activity IDA
IDA: 通过直接分析推断
35137078 GOA
enables [heparan sulfate]-glucosamine N-sulfotransferase activity IMP
IMP: 通过突变表型推断
9230113 GOA
enables heparan sulfate N-deacetylase activity IDA
IDA: 通过直接分析推断
35137078 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18337501 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in trans-Golgi network membrane IDA
IDA: 通过直接分析推断
9230113 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

NDST1 蛋白结构

HSNSD

HSNSD: heparan sulfate-N-deacetylase (25 - 515)

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (605 - 858)

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

bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1

HSNST 1

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 46

MRT46

Mental Retardation, Autosomal Recessive 46

Autosomal Recessive Intellectual Developmental Disorder 46

Mental Retardation, Autosomal Recessive, Type 46
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia
Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24
Exostosis

Osteophyte

Exostoses

Orbital Exostosis

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis
Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary
Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
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-RS09118 NDST1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus NDST1 MGD MGI:104719
Rattus norvegicus NDST1 RGD RGD:69303
Felis catus NDST1 VGNC VGNC:68435
Bos taurus NDST1 VGNC VGNC:31942
Macaca mulatta NDST1 VGNC VGNC:75151
Canis familiaris NDST1 VGNC VGNC:43682
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