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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8869

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
Molecular Function GO Annotation Evidence References Source
enables lactosylceramide alpha-2,3-sialyltransferase activity IDA
IDA: Inferred from direct assay
9822625 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ST3GAL5 Protein Structure

Glyco_transf_29

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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
Others ST3GAL5 NCBI