Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 6487, updated on 7-Dec-2014
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; HPRD:05930; MIM:606494; Vega:OTTHUMG00000007561
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
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 autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
See ST3GAL3 in Epigenomics, MapViewer
Location:
1p34.1
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (43707533..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 (K)-specific 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 LOC101929609 Neighboring gene artemin

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

  • 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 ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • 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...
  • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
    MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
  • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
    MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
  • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
    MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
  • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
    MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
  • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
    MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
  • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
    MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
  • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
  • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
  • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
    MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
  • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
    MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
  • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
    MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
  • 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.
  • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
    Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • 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-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or th...
  • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
    Other types of O-glycan biosynthesis, conserved biosystemO-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or th...
  • 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, 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
beta-galactoside (CMP) 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
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
keratan sulfate metabolic process TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
sialylation IEA
Inferred from Electronic Annotation
more info
 
sialylation TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
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 Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
Names
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
ST3Gal III
alpha 2,3-ST 3
alpha-2,3-sialyltransferase II
alpha 2,3-sialyltransferase III
Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase
mental retardation, non-syndromic, autosomal recessive, 12
sialyltransferase 6 (N-acetyllacosaminide 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_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

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 

    Range
    4987..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 proteins identical to 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
    Conserved Domains (1) summary
    pfam00777
    Location:107344
    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 proteins identical to 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, ENST00000372374
    Conserved Domains (1) summary
    pfam00777
    Location:76343
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  3. NM_001270461.1NP_001257390.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform m

    See proteins identical to 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, AL451062, AY167993
    Consensus CDS
    CCDS57990.1
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:91250
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  4. NM_001270462.1NP_001257391.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform n

    See proteins identical to 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, AL451062, AY167997
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:60219
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  5. NM_001270463.1NP_001257392.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform o

    See proteins identical to 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, AL451062, AY167994
    Consensus CDS
    CCDS57993.1
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:106184
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  6. NM_001270464.1NP_001257393.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform p

    See proteins identical to 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, AL451062, AY167995
    Consensus CDS
    CCDS57991.1
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:91169
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  7. NM_001270465.1NP_001257394.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform q

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS57994.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000335633, ENST00000335430
    Conserved Domains (1) summary
    pfam00777
    Location:106185
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  8. NM_001270466.1NP_001257395.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform r

    See proteins identical to 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, AL451062, AL592548, AY167998
    Consensus CDS
    CCDS57992.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000333494, ENST00000330208
    Conserved Domains (2) summary
    PRK05428
    Location:3155
    PRK05428; HPr kinase/phosphorylase; Provisional
    PRK05673
    Location:5383
    dnaE; DNA polymerase III subunit alpha; Validated
  9. NM_006279.3NP_006270.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform j

    See proteins identical to 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, AL451062, BC050380
    Consensus CDS
    CCDS492.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000355341, OTTHUMP00000008811, ENST00000361392, OTTHUMT00000019964
    Conserved Domains (1) summary
    pfam00777
    Location:107374
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  10. NM_174963.3NP_777623.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform a

    See proteins identical to 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, AL451062, BC050380
    Consensus CDS
    CCDS493.1
    UniProtKB/TrEMBL
    B4DX62
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000262915, ENST00000262915
    Conserved Domains (1) summary
    pfam00777
    Location:176443
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  11. NM_174964.2NP_777624.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS494.1
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:122389
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  12. NM_174965.2NP_777625.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform c

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS499.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000439634, ENST00000545417
  13. NM_174966.2NP_777626.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform d

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS495.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000330463, ENST00000353126
    Conserved Domains (1) summary
    pfam00777
    Location:107266
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  14. NM_174967.2NP_777627.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform e

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS500.1
    UniProtKB/Swiss-Prot
    Q11203
  15. NM_174968.3NP_777628.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform f

    See proteins identical to 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, AL451062, BC050380
    Consensus CDS
    CCDS496.1
    UniProtKB/TrEMBL
    B4DX62
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    pfam00777
    Location:161428
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  16. NM_174969.2NP_777629.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform g

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS497.1
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000354748, OTTHUMP00000008812, ENST00000361400, OTTHUMT00000019965
    Conserved Domains (1) summary
    pfam00777
    Location:91358
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  17. NM_174970.2NP_777630.1  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform h

    See proteins identical to 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, AL451062
    Consensus CDS
    CCDS53310.1
    UniProtKB/Swiss-Prot
    Q11203
    Conserved Domains (1) summary
    PRK05673
    Location:5383
    dnaE; DNA polymerase III subunit alpha; Validated
  18. NM_174971.3NP_777631.2  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform i

    See proteins identical to 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, AL451062, BC050380
    Consensus CDS
    CCDS498.1
    UniProtKB/TrEMBL
    B4DX62
    UniProtKB/Swiss-Prot
    Q11203
    Related
    ENSP00000316999, ENST00000351035
    Conserved Domains (1) summary
    pfam00777
    Location:145412
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RNA

  1. NR_073016.1 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, AL451062
  2. NR_073017.1 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, AL451062
  3. NR_073018.1 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, AL451062, AL592548
  4. NR_073019.1 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, AL451062
  5. NR_073020.1 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, AL451062, AL592548, AY167996
  6. NR_073021.1 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, AL451062
  7. NR_073023.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    43707533..43931165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710826.1XP_006710889.1  

    Conserved Domains (1) summary
    pfam00777
    Location:106349
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  2. XM_006710827.1XP_006710890.1  

    Conserved Domains (1) summary
    pfam00777
    Location:91334
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  3. XM_006710828.1XP_006710891.1  

    Conserved Domains (1) summary
    pfam00777
    Location:14257
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  4. XM_006710825.1XP_006710888.1  

    Conserved Domains (1) summary
    pfam00777
    Location:107350
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  5. XM_006710831.1XP_006710894.1  

    See proteins identical to XP_006710894.1

    Related
    ENSP00000432965, OTTHUMP00000231091, ENST00000533933, OTTHUMT00000386404
    Conserved Domains (1) summary
    pfam00777
    Location:107247
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  6. XM_006710832.1XP_006710895.1  

    See proteins identical to XP_006710895.1

    Conserved Domains (1) summary
    pfam00777
    Location:107247
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  7. XM_006710830.1XP_006710893.1  

    See proteins identical to XP_006710893.1

    Conserved Domains (1) summary
    pfam00777
    Location:107247
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  8. XM_006710833.1XP_006710896.1  

    Conserved Domains (1) summary
    pfam00777
    Location:1137
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  9. XM_006710829.1XP_006710892.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    44289496..44513069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    42293634..42515711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.