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

Also Known as ST3N; DEE15; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6487

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

ST3GAL3 Protein Structure

Glyco_transf_29

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

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

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

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

ST3GAL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
ST3GAL3 Q11203 DPP9 Homo sapiens Q86TI2-2 32814053
Intra
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4 32814053
Intra
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4 32814053
Intra
ST3GAL3 Q11203 MAGEB6 Homo sapiens Q8N7X4 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ST3GAL3 Proteins

Cat. No. 상품명 Accession Purity
HY-P71529 ST3GAL3 Protein, Human (His-SUMO) Q11203 (K29-I375) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

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
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