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ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 6487, updated on 21-Apr-2019

Summary

Official Symbol
ST3GAL3provided by HGNC
Official Full Name
ST3 beta-galactoside alpha-2,3-sialyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:10866
See related
Ensembl:ENSG00000126091 MIM:606494
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ST3N; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII; ST3Gal III
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]
Expression
Broad expression in testis (RPKM 4.7), fat (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See ST3GAL3 in Genome Data Viewer
Location:
1p34.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (43707465..43931165)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44173204..44396837)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type F Neighboring gene lysine demethylase 4A Neighboring gene uncharacterized LOC101929592 Neighboring gene KDM4A antisense RNA 1 Neighboring gene microRNA 6079 Neighboring gene serine hydroxymethyltransferase 1 (soluble) pseudogene 1 Neighboring gene uncharacterized LOC105378688 Neighboring gene artemin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Early infantile epileptic encephalopathy 15
MedGen: C3554316 OMIM: 615006 GeneReviews: Not available
Compare labs
Mental retardation, autosomal recessive 12
MedGen: C1970200 OMIM: 611090 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of aging.
NHGRI GWA Catalog
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem (from REACTOME)
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystemN-linked glycosylation commences with the 14-step synthesis of a dolichol lipid-linked oligosaccharide (LLO) consisting of 14 sugars (2 core GlcNAcs, 9 mannoses and 3 terminal GlcNAcs). This pathway ...
  • Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Glycosphingolipid biosynthesis - lacto and neolacto series, organism-specific biosystem (from KEGG)
    Glycosphingolipid biosynthesis - lacto and neolacto series, organism-specific biosystem
    Glycosphingolipid biosynthesis - lacto and neolacto series
  • Glycosphingolipid biosynthesis - lacto and neolacto series, conserved biosystem (from KEGG)
    Glycosphingolipid biosynthesis - lacto and neolacto series, conserved biosystem
    Glycosphingolipid biosynthesis - lacto and neolacto series
  • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
  • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
    Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
  • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
  • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
    Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
    Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
  • Sialic acid metabolism, organism-specific biosystem (from REACTOME)
    Sialic acid metabolism, organism-specific biosystemSialic acids are a family of 9 carbon alpha-keto acids that are usually present in the non reducing terminal of glycoconjuates on the cell surface of eukaryotic cells. These sialylated conjugates pla...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Synthesis of substrates in N-glycan biosythesis, organism-specific biosystem (from REACTOME)
    Synthesis of substrates in N-glycan biosythesis, organism-specific biosystemReactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.All the...
  • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
    Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).
  • terminal O-glycans residues modification, organism-specific biosystem (from BIOCYC)
    terminal O-glycans residues modification, organism-specific biosystemEnzymatic glycosylation of proteins and lipids is an abundant and important biological process. A great diversity of oligosaccharide structures and types of glycoconjugates is found in nature, and th...
  • terminal O-glycans residues modification, conserved biosystem (from BIOCYC)
    terminal O-glycans residues modification, conserved biosystemEnzymatic glycosylation of proteins and lipids is an abundant and important biological process. A great diversity of oligosaccharide structures and types of glycoconjugates is found in nature, and th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyllactosaminide alpha-2,3-sialyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
sialylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
Names
Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase
alpha 2,3-ST 3
alpha 2,3-sialyltransferase III
alpha-2,3-sialyltransferase II
sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)
sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)
NP_001257388.1
NP_001257389.1
NP_001257390.1
NP_001257391.1
NP_001257392.1
NP_001257393.1
NP_001257394.1
NP_001257395.1
NP_001337548.1
NP_001337549.1
NP_001337550.1
NP_006270.1
NP_777623.2
NP_777624.1
NP_777625.1
NP_777626.1
NP_777627.1
NP_777628.2
NP_777629.1
NP_777630.1
NP_777631.2
XP_006710890.1
XP_011540275.1
XP_011540276.1
XP_011540278.1
XP_011540282.1
XP_011540283.1
XP_011540285.1
XP_011540286.1
XP_011540287.1
XP_011540288.1
XP_011540289.1
XP_011540290.1
XP_016857598.1
XP_016857599.1
XP_016857602.1
XP_016857603.1
XP_016857604.1
XP_016857605.1
XP_016857606.1
XP_016857609.1
XP_016857610.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028196.1 RefSeqGene

    Range
    4951..228620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270459.1NP_001257388.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform k

    See identical proteins and their annotated locations for NP_001257388.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an alternate in-frame exon, uses an alternate in-frame splice site in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoforom (k, also called B1-90) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425854, AL357079, AL451062
    Consensus CDS
    CCDS57988.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000361444.1, ENST00000372369.5
    Conserved Domains (1) summary
    pfam00777
    Location:126341
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  2. NM_001270460.1NP_001257389.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform l

    See identical proteins and their annotated locations for NP_001257389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (l, also called B4+173) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425855, AL357079, AL451062
    Consensus CDS
    CCDS57989.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000361449.2, ENST00000372374.7
    Conserved Domains (1) summary
    pfam00777
    Location:95340
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  3. NM_001270461.2NP_001257390.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform m

    See identical proteins and their annotated locations for NP_001257390.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) uses an alternate in-frame splice site in the 5' coding region and lacks four alternate in-frame exons compared to variant 1. The resulting isoform (m, also called C4) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AL357079, AY167993, DR003980, HY013772
    Consensus CDS
    CCDS57990.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000494146.1, ENST00000642934.1
    Conserved Domains (1) summary
    pfam00777
    Location:110248
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  4. NM_001270462.2NP_001257391.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform n

    See identical proteins and their annotated locations for NP_001257391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) uses an alternate in-frame splice site in the 5' coding region, lacks five alternate in-frame exons compared to variant 1. The resulting isoform (n, also called C11) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AL357079, AY167997, DR003980, HY013772
    Consensus CDS
    CCDS85964.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000432682.2, ENST00000531993.6
    Conserved Domains (1) summary
    pfam00777
    Location:60219
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  5. NM_001270463.2NP_001257392.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform o

    See identical proteins and their annotated locations for NP_001257392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) lacks five alternate in-frame exons compared to variant 1. The resulting isoform (o, also called D5) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AL357079, AY167994, DR003980, HY013772
    Consensus CDS
    CCDS57993.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000361442.1, ENST00000372367.5
    Conserved Domains (1) summary
    pfam00777
    Location:106183
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  6. NM_001270464.2NP_001257393.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform p

    See identical proteins and their annotated locations for NP_001257393.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) uses an alternate in-frame splice site in the 5' coding region and lacks five alternate in-frame exon compared to variant 1. The resulting isoform (p, also called C5) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AL357079, AY167995, DR003980, HY013772
    Consensus CDS
    CCDS57991.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000434876.1, ENST00000528371.5
    Conserved Domains (1) summary
    pfam00777
    Location:91168
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  7. NM_001270465.2NP_001257394.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform q

    See identical proteins and their annotated locations for NP_001257394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) lacks two alternate in-frame exons, uses an alternate splice site which results in a frameshift and lacks an exon in the 3' coding region compared to variant 1. The resulting isoform (q, also called D2+26) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AA478788, AF425863, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS57994.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000335633.7, ENST00000335430.10
    Conserved Domains (1) summary
    pfam00777
    Location:125185
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  8. NM_001270466.2NP_001257395.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform r

    See identical proteins and their annotated locations for NP_001257395.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) uses an alternate in-frame splice site in the 5' coding region and lacks eight alternate in-frame exons compared to variant 1. The resulting isoform (r, also called C12) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AL357079, AL592548, AY167998, DR003980, HY013772
    Consensus CDS
    CCDS57992.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000333494.3, ENST00000330208.6
    Conserved Domains (2) summary
    PRK05428
    Location:3155
    PRK05428; HPr kinase/phosphorylase; Provisional
    PRK05673
    Location:5383
    dnaE; DNA polymerase III subunit alpha; Validated
  9. NM_001350619.1NP_001337548.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform s

    Status: REVIEWED

    Source sequence(s)
    AA478788, AF425855, AL357079, BC050380, BI832120, DR003980, HY013772
    Consensus CDS
    CCDS85965.1
    Related
    ENSP00000493823.1, ENST00000642331.1
    Conserved Domains (1) summary
    pfam00777
    Location:141353
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  10. NM_001350620.1NP_001337549.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform t

    Status: REVIEWED

    Source sequence(s)
    AA478788, AF425855, AL357079, BC050380, BI832120, DN999880, HY013772
    Consensus CDS
    CCDS85962.1
    Related
    ENSP00000495333.1, ENST00000643252.1
    Conserved Domains (1) summary
    pfam00777
    Location:126338
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  11. NM_001350621.1NP_001337550.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform u

    Status: REVIEWED

    Source sequence(s)
    AA478788, AF425855, AL357079, AL521256, BC050380, BI832120, DN999880, HY013772
    Conserved Domains (1) summary
    pfam00777
    Location:33245
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  12. NM_001363573.1NP_001350502.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform v

    Status: REVIEWED

    Source sequence(s)
    AL357079, AL451062, AL592548
    Consensus CDS
    CCDS85961.1
    Conserved Domains (1) summary
    pfam00777
    Location:180318
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  13. NM_006279.4NP_006270.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform j

    See identical proteins and their annotated locations for NP_006270.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (j, also called B1) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, BC050380, HY013772
    Consensus CDS
    CCDS492.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000317192.5, ENST00000347631.7
    Conserved Domains (1) summary
    pfam00777
    Location:126371
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  14. NM_174963.4NP_777623.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a

    See identical proteins and their annotated locations for NP_777623.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also called A8).
    Source sequence(s)
    AA478788, AF425853, AK301829, AL357079, BC050380, HY013772
    Consensus CDS
    CCDS493.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000262915.3, ENST00000262915.8
    Conserved Domains (1) summary
    pfam00777
    Location:195440
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  15. NM_174964.3NP_777624.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b

    See identical proteins and their annotated locations for NP_777624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b, also called A1) that is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425851, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS494.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000355341.5, ENST00000361392.9
    Conserved Domains (1) summary
    pfam00777
    Location:141386
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  16. NM_174965.3NP_777625.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform c

    See identical proteins and their annotated locations for NP_777625.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (c, also called A7) has a distinct C-terminus and is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425852, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS499.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000439634.1, ENST00000545417.5
  17. NM_174966.3NP_777626.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform d

    See identical proteins and their annotated locations for NP_777626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (d, also called B4) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425856, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS495.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000330463.3, ENST00000353126.8
    Conserved Domains (1) summary
    pfam00777
    Location:126264
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  18. NM_174967.3NP_777627.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform e

    See identical proteins and their annotated locations for NP_777627.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (e, also called B7) has a distinct C-terminus and is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425857, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS500.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000361437.2, ENST00000372362.6
  19. NM_174968.4NP_777628.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform f

    See identical proteins and their annotated locations for NP_777628.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) utilizes an alternate in-frame splice site compared to variant 1, resulting in an isoform (f, also called B8) that is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425858, AK301829, AL357079, BC050380, HY013772
    Consensus CDS
    CCDS496.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000316999.6, ENST00000351035.8
    Conserved Domains (1) summary
    pfam00777
    Location:180425
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  20. NM_174969.3NP_777629.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform g

    See identical proteins and their annotated locations for NP_777629.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame compared to variant 1. The resulting isoform (g, also called C1) is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425859, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS497.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000354748.4, ENST00000361400.9
    Conserved Domains (1) summary
    pfam00777
    Location:110355
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  21. NM_174970.3NP_777630.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform h

    See identical proteins and their annotated locations for NP_777630.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences in the coding region, one of which results in a frameshift compared to variant 1. The resulting isoform (h, also called C7) has a distinct C-terminus and is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425860, AL357079, DR003980, HY013772
    Consensus CDS
    CCDS53310.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000435603.1, ENST00000531451.5
  22. NM_174971.4NP_777631.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform i

    See identical proteins and their annotated locations for NP_777631.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate in-frame segment compared to variant 1, resulting in an isoform (i, also called C8) that is shorter compared to isoform a.
    Source sequence(s)
    AA478788, AF425861, AK301829, AL357079, BC050380, HY013772
    Consensus CDS
    CCDS498.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000361447.2, ENST00000372372.7
    Conserved Domains (1) summary
    pfam00777
    Location:164409
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RNA

  1. NR_073016.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AF425864, AL357079, DR003980, HY013772
    Related
    ENST00000642949.1
  2. NR_073017.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20) lacks three alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AF425868, AL357079, DR003980, HY013772
    Related
    ENST00000646027.1
  3. NR_073018.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AF425865, AL357079, AL592548, DR003980, HY013772
    Related
    ENST00000643597.1
  4. NR_073019.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) lacks alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AF425869, AL357079, DR003980, HY013772
  5. NR_073020.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AL357079, AL592548, AY167996, DR003980, HY013772
  6. NR_073021.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AF425867, AL357079, DR003980, HY013772
  7. NR_073023.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25) lacks three alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA478788, AL357079, AL451062, AY167992, DR003980, HY013772
    Related
    ENST00000642194.1
  8. NR_146867.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA478788, AF425855, AL357079, BC050380, BI822816, DN999880, HY013772
    Related
    ENST00000645142.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    43707465..43931165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710827.4XP_006710890.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X6

    Related
    ENSP00000495683.1, ENST00000646686.1
    Conserved Domains (1) summary
    pfam00777
    Location:91334
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  2. XM_011541983.2XP_011540285.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11

    Conserved Domains (1) summary
    pfam00777
    Location:13256
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  3. XM_011541981.2XP_011540283.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X9

    Conserved Domains (1) summary
    pfam00777
    Location:176335
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  4. XM_011541974.2XP_011540276.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X3

    Conserved Domains (1) summary
    pfam00777
    Location:161404
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  5. XM_017002117.1XP_016857606.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X12

    Related
    ENSP00000495624.1, ENST00000647237.1
    Conserved Domains (1) summary
    pfam00777
    Location:180318
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  6. XM_011541987.2XP_011540289.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14

    See identical proteins and their annotated locations for XP_011540289.1

    Conserved Domains (1) summary
    pfam00777
    Location:1243
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  7. XM_011541976.2XP_011540278.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X4

    Conserved Domains (1) summary
    pfam00777
    Location:145388
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  8. XM_017002115.1XP_016857604.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X10

    Conserved Domains (1) summary
    pfam00777
    Location:33245
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  9. XM_011541973.2XP_011540275.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X2

    Conserved Domains (1) summary
    pfam00777
    Location:176419
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  10. XM_011541986.3XP_011540288.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13

    See identical proteins and their annotated locations for XP_011540288.1

    Conserved Domains (1) summary
    pfam00777
    Location:176317
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  11. XM_017002110.1XP_016857599.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X5

  12. XM_011541985.2XP_011540287.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13

    See identical proteins and their annotated locations for XP_011540287.1

    Conserved Domains (1) summary
    pfam00777
    Location:176317
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  13. XM_011541984.2XP_011540286.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X13

    See identical proteins and their annotated locations for XP_011540286.1

    Conserved Domains (1) summary
    pfam00777
    Location:176317
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  14. XM_017002120.1XP_016857609.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X15

    Conserved Domains (1) summary
    pfam00777
    Location:1264
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  15. XM_017002113.1XP_016857602.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X8

    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000494201.1, ENST00000644195.1
    Conserved Domains (1) summary
    pfam00777
    Location:126371
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  16. XM_017002109.2XP_016857598.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X1

    Conserved Domains (1) summary
    pfam00777
    Location:176419
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  17. XM_017002121.1XP_016857610.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X15

    Conserved Domains (1) summary
    pfam00777
    Location:1264
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  18. XM_017002114.1XP_016857603.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X10

    Conserved Domains (1) summary
    pfam00777
    Location:33245
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  19. XM_017002116.1XP_016857605.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X11

    Conserved Domains (1) summary
    pfam00777
    Location:13256
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  20. XM_011541980.3XP_011540282.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X7

    Conserved Domains (1) summary
    pfam00777
    Location:52295
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  21. XM_011541988.2XP_011540290.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform X14

    See identical proteins and their annotated locations for XP_011540290.1

    Conserved Domains (1) summary
    pfam00777
    Location:1243
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RNA

  1. XR_946745.2 RNA Sequence

  2. XR_946744.2 RNA Sequence

  3. XR_946743.2 RNA Sequence

  4. XR_946742.2 RNA Sequence

  5. XR_001737368.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_174972.1: Suppressed sequence

    Description
    NM_174972.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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