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

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

Homo sapiens

Also known as SATI; SIAT9; SPDRS; ST3GalV; SIATGM3S; ST3Gal V

Gene ID: 8869 | Gene type: protein coding

About 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.

Summary

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 Products(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

ST3GAL5 Protein Structure

Glyco_transf_29

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

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
Protein Preferred Names Protein Names

lactosylceramide alpha-2,3-sialyltransferase

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

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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