This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate ... See more...

Aliases for ST6GAL1 Gene

Aliases for ST6GAL1 Gene

  • ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 1 2 3 5
  • ST6Gal I 2 3 4
  • CMP-N-Acetylneuraminate-Beta-Galactosamide-Alpha-2,6-Sialyltransferase 1 3 4
  • ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1 2 3
  • ST6 Beta-Galactosamide Alpha-2,6-Sialyltranferase 1 2 3
  • Beta-Galactoside Alpha-2,6-Sialyltransferase 1 3 4
  • B-Cell Antigen CD75 3 4
  • Alpha 2,6-ST 1 3 4
  • EC 2.4.99.1 4 52
  • ST6GalI 3 4
  • SIAT1 3 4
  • CMP-N-Acetylneuraminate Beta-Galactosamide Alpha-2,6-Sialyltransferase 3
  • Sialyltransferase 1 (Beta-Galactoside Alpha-2,6-Sialyltransferase) 3
  • Sialyltransferase 1 (Beta-Galactoside Alpha-2,6-Sialytransferase) 2
  • Sialyltransferase 1 4
  • ST6N 3

External Ids for ST6GAL1 Gene

Previous HGNC Symbols for ST6GAL1 Gene

  • SIAT1

Previous GeneCards Identifiers for ST6GAL1 Gene

  • GC03P188132
  • GC03P186648
  • GC03P184054

Summaries for ST6GAL1 Gene

Entrez Gene Summary for ST6GAL1 Gene

  • This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneCards Summary for ST6GAL1 Gene

ST6GAL1 (ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 1) is a Protein Coding gene. Diseases associated with ST6GAL1 include Colon Adenocarcinoma and Puerperal Pulmonary Embolism. Among its related pathways are Metabolism of proteins and Globo Sphingolipid Metabolism. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and beta-galactoside alpha-2,6-sialyltransferase activity. An important paralog of this gene is ST6GAL2.

UniProtKB/Swiss-Prot Summary for ST6GAL1 Gene

  • Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates.

Gene Wiki entry for ST6GAL1 Gene

Additional gene information for ST6GAL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST6GAL1 Gene

Genomics for ST6GAL1 Gene

GeneHancer (GH) Regulatory Elements for ST6GAL1 Gene

Promoters and enhancers for ST6GAL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST6GAL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST6GAL1

Top Transcription factor binding sites by QIAGEN in the ST6GAL1 gene promoter:
  • AML1a
  • AP-4
  • Max1
  • Pax-4a
  • TBP
  • TFIID

Genomic Locations for ST6GAL1 Gene

Genomic Locations for ST6GAL1 Gene
chr3:186,930,343-187,078,553
(GRCh38/hg38)
Size:
148,211 bases
Orientation:
Plus strand
chr3:186,648,274-186,796,341
(GRCh37/hg19)
Size:
148,068 bases
Orientation:
Plus strand

Genomic View for ST6GAL1 Gene

Genes around ST6GAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST6GAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST6GAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST6GAL1 Gene

Proteins for ST6GAL1 Gene

  • Protein details for ST6GAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15907-SIAT1_HUMAN
    Recommended name:
    Beta-galactoside alpha-2,6-sialyltransferase 1
    Protein Accession:
    P15907
    Secondary Accessions:
    • A8KA14
    • B2R513
    • D3DNV3

    Protein attributes for ST6GAL1 Gene

    Size:
    406 amino acids
    Molecular mass:
    46605 Da
    Quaternary structure:
    • Monomer and homodimer.

    Three dimensional structures from OCA and Proteopedia for ST6GAL1 Gene

    Alternative splice isoforms for ST6GAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ST6GAL1 Gene

Selected DME Specific Peptides for ST6GAL1 Gene

P15907:
  • HDAVLRFN
  • IQPNPPSSG

Post-translational modifications for ST6GAL1 Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • The HB-6, CDW75, and CD76 differentiation antigens are cell-surface carbohydrate determinants generated by this enzyme.
  • N-glycosylated.
  • Glycosylation at Thr68, Asn149, and Asn161
  • Modification sites at PhosphoSitePlus

Domains & Families for ST6GAL1 Gene

Gene Families for ST6GAL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ST6GAL1 Gene

Blocks:
  • Glycosyl transferase, family 29
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ST6GAL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92299, Homo sapiens sialyltransferase 1 (beta-galactosidealpha-2,6-sialyltransferase) (SIAT1), transcript variant 3, mRNA (B2R513_HUMAN)
  • Sialyltransferase 1 (SIAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15907

UniProtKB/Swiss-Prot:

SIAT1_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST6GAL1: view

Function for ST6GAL1 Gene

Molecular function for ST6GAL1 Gene

UniProtKB/Swiss-Prot Function:
Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactoside + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->6)-beta-D-galactosyl derivative + CMP + H(+); Xref=Rhea:RHEA:52104, ChEBI:CHEBI:15378, ChEBI:CHEBI:28034, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:136398; EC=2.4.99.1; Evidence={ECO:0000269 PubMed:21081508, ECO:0000269 PubMed:23999306};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by CTP.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=530 uM for CMP-NeuAc {ECO:0000269 PubMed:21081508}; Vmax=1.074 pmol/min/ug enzyme {ECO:0000269 PubMed:21081508};

Enzyme Numbers (IUBMB) for ST6GAL1 Gene

Phenotypes From GWAS Catalog for ST6GAL1 Gene

Gene Ontology (GO) - Molecular Function for ST6GAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003835 beta-galactoside alpha-2,6-sialyltransferase activity TAS --
GO:0005515 protein binding IPI 16237761
GO:0008373 sialyltransferase activity IDA 21081508
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST6GAL1: view
genes like me logo Genes that share phenotypes with ST6GAL1: view

Animal Models for ST6GAL1 Gene

MGI Knock Outs for ST6GAL1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ST6GAL1 Gene

Localization for ST6GAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST6GAL1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ST6GAL1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ST6GAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST6GAL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ST6GAL1 Gene

Pathways & Interactions for ST6GAL1 Gene

genes like me logo Genes that share pathways with ST6GAL1: view

UniProtKB/Swiss-Prot P15907-SIAT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ST6GAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006054 N-acetylneuraminate metabolic process IDA 23999306
GO:0006486 protein glycosylation IEA --
GO:0006959 humoral immune response TAS 7786324
GO:0016266 O-glycan processing TAS --
GO:0018279 protein N-linked glycosylation via asparagine IDA 23999306
genes like me logo Genes that share ontologies with ST6GAL1: view

No data available for SIGNOR curated interactions for ST6GAL1 Gene

Drugs & Compounds for ST6GAL1 Gene

(3) Drugs for ST6GAL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0

(10) Additional Compounds for ST6GAL1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(N-acetylneuraminosyl(a2-6)lactosamine)
  • 6-Sialyllactosamine
  • alpha-N-Acetylneuraminyl-2,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • alpha-NeuNAc-(2->6)-beta-D-gal-(1->4)-beta-D-glcnac
  • alpha-NeupNAc-(2->6)-beta-D-galp-(1->4)-beta-D-glcpnac
  • N-Acetylneuraminosyl(alpha2-6)lactosamine
64364-50-7
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-beta-Neu5ac
  • CMP-N-Acetylneuraminate
  • CMP-Sialic acid
  • CYTIDINE-5'-monophosphATE-5-N-acetylneuraminIC ACID
  • CMP-b-Neu5ac
22-12-8
genes like me logo Genes that share compounds with ST6GAL1: view

Transcripts for ST6GAL1 Gene

mRNA/cDNA for ST6GAL1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST6GAL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^
SP1: - - - - - - - - - - - -
SP2: - -
SP3:
SP4: - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7:
SP8: - - - -
SP9:
SP10: - -
SP11: - - - - - - -
SP12: - - - - -
SP13: -
SP14: - -
SP15: - - -
SP16:

ExUns: 16 ^ 17a · 17b · 17c · 17d ^ 18a · 18b · 18c ^ 19a · 19b
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for ST6GAL1 Gene

GeneLoc Exon Structure for
ST6GAL1

Expression for ST6GAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ST6GAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST6GAL1 Gene

This gene is overexpressed in Liver (x15.8).

Protein differential expression in normal tissues from HIPED for ST6GAL1 Gene

This gene is overexpressed in Liver (20.9), Serum (20.8), Plasma (9.2), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ST6GAL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST6GAL1

SOURCE GeneReport for Unigene cluster for ST6GAL1 Gene:

Hs.207459

Evidence on tissue expression from TISSUES for ST6GAL1 Gene

  • Liver(4.7)
  • Skin(4.3)
  • Spleen(4.3)
  • Nervous system(4.1)
  • Kidney(2.8)
  • Intestine(2.5)
  • Lymph node(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ST6GAL1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST6GAL1 Gene

Orthologs for ST6GAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ST6GAL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIAT1 31
  • 100 (a)
OneToOne
ST6GAL1 30
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ST6GAL1 31 30
  • 88.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ST6GAL1 31 30
  • 85.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia St6gal1 17 31 30
  • 82.46 (n)
rat
(Rattus norvegicus)
Mammalia St6gal1 30
  • 82.46 (n)
oppossum
(Monodelphis domestica)
Mammalia ST6GAL1 31
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 45 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ST6GAL1 31 30
  • 65.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ST6GAL1 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st6gal1 30
  • 58.89 (n)
zebrafish
(Danio rerio)
Actinopterygii st6gal1 31 30
  • 56.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ST6Gal 31
  • 25 (a)
OneToMany
Species where no ortholog for ST6GAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ST6GAL1 Gene

ENSEMBL:
Gene Tree for ST6GAL1 (if available)
TreeFam:
Gene Tree for ST6GAL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ST6GAL1: view image

Paralogs for ST6GAL1 Gene

(1) SIMAP similar genes for ST6GAL1 Gene using alignment to 16 proteins:

  • SIAT1_HUMAN
  • B2R513_HUMAN
  • C9IYS8_HUMAN
  • C9J6X5_HUMAN
  • C9JAT4_HUMAN
  • C9JFM4_HUMAN
  • C9JH16_HUMAN
  • C9JI90_HUMAN
  • C9JKG0_HUMAN
  • C9JPG6_HUMAN
  • C9JR47_HUMAN
  • C9JTR0_HUMAN
  • C9JVK7_HUMAN
  • C9K0R8_HUMAN
  • H7C472_HUMAN
  • L8E992_HUMAN
genes like me logo Genes that share paralogs with ST6GAL1: view

Variants for ST6GAL1 Gene

Additional dbSNP identifiers (rs#s) for ST6GAL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ST6GAL1 Gene

Variant ID Type Subtype PubMed ID
esv1371504 CNV deletion 17803354
esv1985985 CNV deletion 18987734
esv2726343 CNV deletion 23290073
esv2726344 CNV deletion 23290073
esv2726345 CNV deletion 23290073
esv2759207 CNV loss 17122850
esv34136 CNV loss 18971310
esv3569168 CNV loss 25503493
esv3599004 CNV loss 21293372
esv3893839 CNV gain 25118596
nsv1001111 CNV gain 25217958
nsv1003732 CNV gain 25217958
nsv1004008 CNV gain 25217958
nsv1012615 CNV gain 25217958
nsv1114461 CNV deletion 24896259
nsv4156 CNV deletion 18451855
nsv477787 CNV novel sequence insertion 20440878
nsv478351 CNV novel sequence insertion 20440878
nsv508975 CNV insertion 20534489
nsv519618 CNV loss 19592680

Variation tolerance for ST6GAL1 Gene

Residual Variation Intolerance Score: 44.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST6GAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST6GAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST6GAL1 Gene

Disorders for ST6GAL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ST6GAL1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colon adenocarcinoma
  • adenocarcinoma of colon
puerperal pulmonary embolism
  • obstetric pulmonary embolism
salt and pepper syndrome
  • salt & pepper syndrome
swine influenza
  • influenza due to influenza a virus subtype h1n1
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ST6GAL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ST6GAL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ST6GAL1 Gene

Publications for ST6GAL1 Gene

  1. Complete cDNA sequence encoding human beta-galactoside alpha-2,6-sialyltransferase. (PMID: 2408023) Grundmann U … Zettlmeissl G (Nucleic acids research 1990) 2 3 4 54
  2. The B cell antigen CD75 is a cell surface sialytransferase. (PMID: 2373995) Stamenkovic I … Funderud S (The Journal of experimental medicine 1990) 3 4 23 54
  3. The structure of human α-2,6-sialyltransferase reveals the binding mode of complex glycans. (PMID: 23999306) Kuhn B … Rudolph MG (Acta crystallographica. Section D, Biological crystallography 2013) 3 4 54
  4. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (PMID: 21874001) Kooner JS … Chambers JC (Nature genetics 2011) 3 41 54
  5. Universal phosphatase-coupled glycosyltransferase assay. (PMID: 21081508) Wu ZL … Jiang W (Glycobiology 2011) 3 4 54

Products for ST6GAL1 Gene

Sources for ST6GAL1 Gene