1. Gene
  2. ST3GAL5 - ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Gene

ST3GAL5 - ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Gene

中文名称:ST3 β-半乳糖苷 α-2,3-唾液酸转移酶 5

种属: Homo sapiens

同用名: SATI; SIAT9; SPDRS; ST3GalV; SIATGM3S; ST3Gal V

基因 ID: 8869 | 基因类型: protein coding

关于 ST3GAL5

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:85,837,120-85,889,034 (from NCBI)

This gene has 69 transcripts (splice variants), 198 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in adrenal (RPKM 17.6), thyroid (RPKM 16.1) and 23 other tissues.

功能概要

已知神经节苷脂 GM3 参与诱导细胞分化、调节细胞增殖、维持成纤维细胞形态、信号转导和整合素介导的细胞粘附。该基因编码的蛋白质是一种 II 型膜蛋白,它以乳糖苷神经酰胺为底物催化 GM3 的形成。编码的蛋白质是糖基转移酶家族 29 的成员,可能定位于高尔基体。该基因的突变与阿米什婴儿癫痫综合症有关。已发现该基因编码不同异构体的转录变体。[RefSeq 提供,2008 年 7 月]

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of Glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ST3GAL5 基因产物(13)

mRNA Protein Name
NM_001042437.2 NP_001035902.1 lactosylceramide alpha-2,3-sialyltransferase isoform 2
NM_001354223.2 NP_001341152.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001354224.2 NP_001341153.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001354226.2 NP_001341155.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001354227.2 NP_001341156.1 lactosylceramide alpha-2,3-sialyltransferase isoform 4
NM_001354229.2 NP_001341158.1 lactosylceramide alpha-2,3-sialyltransferase isoform 4
NM_001354233.2 NP_001341162.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001354234.1 NP_001341163.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001354238.1 NP_001341167.1 lactosylceramide alpha-2,3-sialyltransferase isoform 4
NM_001354247.1 NP_001341176.1 lactosylceramide alpha-2,3-sialyltransferase isoform 5
NM_001354248.1 NP_001341177.1 lactosylceramide alpha-2,3-sialyltransferase isoform 3
NM_001363847.1 NP_001350776.1 lactosylceramide alpha-2,3-sialyltransferase isoform 6
NM_003896.4 NP_003887.3 lactosylceramide alpha-2,3-sialyltransferase isoform 1
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 lactosylceramide alpha-2,3-sialyltransferase activity IDA
IDA: 通过直接分析推断
9822625 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

ST3GAL5 蛋白结构

Glyco_transf_29

Glyco_transf_29: Glycosyltransferase family 29 (sialyltransferase) (147 - 412)

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

lactosylceramide alpha-2,3-sialyltransferase

CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase

关联疾病

疾病名称 别名
Salt And Pepper Developmental Regression Syndrome

Gm3 Synthase Deficiency

Amish Infantile Epilepsy Syndrome

Epilepsy Syndrome, Infantile-Onset Symptomatic

SPDRS

St3gal5-Cdg

Salt And Pepper Mental Retardation Syndrome

Infantile-Onset Symptomatic Epilepsy Syndrome - Developmental Stagnation - Blindness

Salt And Pepper Syndrome

Ganglioside Gm3 Synthase Deficiency

Infantile-Onset Symptomatic Epilepsy Syndrome

Aies

Epilepsy Syndrome Infantile-Onset Symptomatic

Salt And Pepper Syndrome

Salt & Pepper Syndrome

Salt-And-Pepper Syndrome

Infantile Epilepsy Syndrome

Infantile Epilepsy

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

Cortical Blindness

Blindness, Cortical

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

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

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Felis catus ST3GAL5 VGNC VGNC:65723
Rattus norvegicus ST3GAL5 RGD RGD:620875
Bos taurus ST3GAL5 VGNC VGNC:35334
Macaca mulatta ST3GAL5 VGNC VGNC:77833
Mus musculus ST3GAL5 MGD MGI:1339963
Canis familiaris ST3GAL5 VGNC VGNC:46853