1. Gene
  2. ST3GAL3 - ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Gene

ST3GAL3 - ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Gene

中文名称:ST3 β-半乳糖苷 α-2,3-唾液酸转移酶 3

种属: Homo sapiens

同用名: ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III

基因 ID: 6487 | 基因类型: protein coding

关于 ST3GAL3

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:43,707,536-43,931,159 (from NCBI)

This gene has 85 transcripts (splice variants), 254 orthologues, 14 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 4.7), fat (RPKM 2.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种 II 型膜蛋白,可催化唾液酸从 CMP-唾液酸转移到含半乳糖的底物。编码的蛋白质通常存在于高尔基体中,但可以通过蛋白水解加工成可溶性形式。这种蛋白质是糖基转移酶家族 29 的成员。这种基因的突变与一种常染色体隐性非症状性认知障碍以及婴儿癫痫性脑病有关。已发现该基因的多个转录变体编码几种不同的亚型。[RefSeq 提供,2017 年 7 月]

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of Glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

ST3GAL3 基因产物(23)

mRNA Protein Name
NM_001270459.2 NP_001257388.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k
NM_001270460.2 NP_001257389.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform l
NM_001270461.3 NP_001257390.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform m
NM_001270462.3 NP_001257391.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform n
NM_001270463.3 NP_001257392.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform o
NM_001270464.3 NP_001257393.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform p
NM_001270465.3 NP_001257394.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform q
NM_001270466.3 NP_001257395.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform r
NM_001350619.2 NP_001337548.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform s
NM_001350620.2 NP_001337549.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform t
NM_001350621.2 NP_001337550.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform u
NM_001363573.2 NP_001350502.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform v
NM_001410781.1 NP_001397710.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform w
NM_006279.5 NP_006270.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform j
NM_174963.5 NP_777623.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a
NM_174964.4 NP_777624.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b
NM_174965.4 NP_777625.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform c
NM_174966.4 NP_777626.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform d
NM_174967.4 NP_777627.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform e
NM_174968.5 NP_777628.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform f
NM_174969.4 NP_777629.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform g
NM_174970.4 NP_777630.1 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform h
NM_174971.5 NP_777631.2 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform i
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
32814053 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

ST3GAL3 蛋白结构

Glyco_transf_29

Glyco_transf_29: Glycosyltransferase family 29 (sialyltransferase) (106 - 372)

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

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase

Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase

ST3GAL3 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
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2
Validated Y2H
32814053
种属内
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2
Y2H Array
32814053
种属内
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2
Y2H Pooling
32814053
种属内
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4
Y2H Array
32814053
种属内
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4
Validated Y2H
32814053
种属内
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4
Y2H Pooling
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ST3GAL3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71529 ST3GAL3 Protein, Human (His-SUMO) Q11203 (29K-375I) ≥95%

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 15

DEE15

Epileptic Encephalopathy, Early Infantile, 15

Eiee15

Developmental And Epileptic Encephalopathy, 15

Early Infantile Epileptic Encephalopathy 15

Encephalopathy, Epileptic, Early Infantile, Type 15

Early Infantile Epileptic Encephalopathy With Suppression Bursts

X-Linked Infantile Spasm Syndrome

Intellectual Developmental Disorder, Autosomal Recessive 12

MRT12

Autosomal Recessive Intellectual Developmental Disorder 12

Intellectual Developmental Disorder, Autosomal Recessive, Type 12

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Ohtahara Syndrome
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Salt And Pepper Syndrome

Salt & Pepper Syndrome

Salt-And-Pepper Syndrome

Developmental And Epileptic Encephalopathy 8

DEE8

Epileptic Encephalopathy, Early Infantile, 8

Eiee8

Hyperekplexia And Epilepsy

Developmental And Epileptic Encephalopathy, 8

Early Infantile Epileptic Encephalopathy 8

Hyperekplexia-Epilepsy Syndrome

Hyperekplexia With Epilepsy

Startle Disease With Epilepsy

Encephalopathy, Epileptic, Early Infantile, Type 8

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Infancy Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2

DEE2

Eiee2

Issx2

Developmental And Epileptic Encephalopathy, 2

Infantile Spasm Syndrome, X-Linked 2

Early Infantile Epileptic Encephalopathy 2

X-Linked Infantile Spasm Syndrome 2

Atypical Rett Syndrome Cdkl5-Related

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome X-Linked 2

Rett Syndrome Early-Onset Seizure Variant

Rett Syndrome Variant With Infantile Spasms

Encephalopathy, Epileptic, Early Infantile, Type 2

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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
Canis familiaris ST3GAL3 VGNC VGNC:108234
Mus musculus ST3GAL3 MGD MGI:1316659
Felis catus ST3GAL3 VGNC VGNC:65721
Macaca mulatta ST3GAL3 VGNC VGNC:77828
Rattus norvegicus ST3GAL3 RGD RGD:68414
Bos taurus ST3GAL3 VGNC VGNC:54493
Others ST3GAL3 NCBI