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    ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 6489, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ST8SIA1provided by HGNC
    Official Full Name
    ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:10869
    See related
    Ensembl:ENSG00000111728 MIM:601123; AllianceGenome:HGNC:10869
    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
    GD3S; SIAT8; SIAT8A; SIAT8-A; ST8SiaI
    Summary
    Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
    Expression
    Broad expression in brain (RPKM 1.5), adrenal (RPKM 0.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ST8SIA1 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (22193391..22334707, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (22071418..22212735, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22346325..22487641, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6097 Neighboring gene cytidine monophosphate N-acetylneuraminic acid synthetase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4287 Neighboring gene sulfotransferase family 6B member 2, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22289754-22290362 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26529 Neighboring gene RNA, U1 small nuclear 149, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26564 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26565 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26566 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_26567/26568 and experimental_26569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26571 Neighboring gene uncharacterized LOC112268093 Neighboring gene uncharacterized LOC105369151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22589597-22590204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22590205-22590812 Neighboring gene C2 calcium dependent domain containing 5 Neighboring gene Sharpr-MPRA regulatory region 11196 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:22695717-22696236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6098 Neighboring gene Sharpr-MPRA regulatory region 5250 Neighboring gene leucine rich repeat containing 34 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Disialoganglioside (GD3) synthase gene expression suppresses vascular smooth muscle cell responses via the inhibition of ERK1/2 phosphorylation, cell cycle progression, and matrix metalloproteinase-9 expression. Moon SK, et al. J Biol Chem, 2004 Aug 6. PMID 15175338
    2. Isolation and functional analysis of the human glioblastoma-specific promoter region of the human GD3 synthase (hST8Sia I) gene. Dae HM, et al. Acta Biochim Biophys Sin (Shanghai), 2009 Mar. PMID 19280063
    3. GD3 synthase overexpression enhances proliferation and migration of MDA-MB-231 breast cancer cells. Cazet A, et al. Biol Chem, 2009 Jul. PMID 19335207
    4. Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families. Ramagopalan SV, et al. J Neuroimmunol, 2009 Jul 25. PMID 19428123
    5. Disialoganglioside GD3 synthase expression recruits membrane transglutaminase 2 during erythroid differentiation of the human chronic myelogenous leukemia K562 cells. Kang SK, et al. Proteomics, 2008 Aug. PMID 18690648

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1.
      Title: The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1.
    2. Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells.
      Title: Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells.
    3. Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
      Title: Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
    4. BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1.
      Title: BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1.
    5. Knockdown of lncRNA MIR44352HG and ST8SIA1 expression inhibits the proliferation, invasion and migration of prostate cancer cells in vitro and in vivo by blocking the activation of the FAK/AKT/betacatenin signaling pathway.
      Title: Knockdown of lncRNA MIR4435‑2HG and ST8SIA1 expression inhibits the proliferation, invasion and migration of prostate cancer cells in vitro and in vivo by blocking the activation of the FAK/AKT/β‑catenin signaling pathway.
    6. ST8SIA1 inhibition sensitizes triple negative breast cancer to chemotherapy via suppressing Wnt/beta-catenin and FAK/Akt/mTOR.
      Title: ST8SIA1 inhibition sensitizes triple negative breast cancer to chemotherapy via suppressing Wnt/β-catenin and FAK/Akt/mTOR.
    7. Comprehensive Transcriptomic Analysis Identifies ST8SIA1 as a Survival-Related Sialyltransferase Gene in Breast Cancer.
      Title: Comprehensive Transcriptomic Analysis Identifies ST8SIA1 as a Survival-Related Sialyltransferase Gene in Breast Cancer.
    8. TNFalpha-signal and cAMP-mediated signals oppositely regulate melanoma- associated ganglioside GD3 synthase gene in human melanocytes.
      Title: TNFα-signal and cAMP-mediated signals oppositely regulate melanoma- associated ganglioside GD3 synthase gene in human melanocytes.
    9. genetic variants at the genes SSH1 and ST8SIA1 were related to the genetic predisposition to early-onset periodontitis that is in part triggered by smoking
      Title: Smoking Modifies the Genetic Risk for Early-Onset Periodontitis.
    10. these data demonstrate the mechanism by which ST8SIA1 regulates tumor growth and metastasis in triple-negative breast cancer.
      Title: ST8SIA1 Regulates Tumor Growth and Metastasis in TNBC by Activating the FAK-AKT-mTOR Signaling Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    EBI GWAS Catalog
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to heat IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-N-acetylneuraminide alpha-2,8-sialyltransferase
    Names
    ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1
    alpha-2,8-sialyltransferase 8A
    disialoganglioside (GD3) synthase
    ganglioside GD3 synthase
    ganglioside GT3 synthase
    ganglioside-specific alpha-2,8-polysialyltransferase
    sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A
    sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)
    sialyltransferase St8Sia I
    sialytransferase St8Sia I
    NP_001291379.1
    NP_003025.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001304450.2 → NP_001291379.1  alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 2

      See identical proteins and their annotated locations for NP_001291379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, which results in translation initiation at an alternate downstream AUG codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC007671, BM929838, EU041716
      UniProtKB/TrEMBL
      B4DM64
      Conserved Domains (1) summary
      pfam00777
      Location:21 → 201
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_003034.4 → NP_003025.1  alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 1

      See identical proteins and their annotated locations for NP_003025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007671, BC117285, BM929838, X77922
      Consensus CDS
      CCDS8697.1
      UniProtKB/Swiss-Prot
      A8K4H6, Q17RL0, Q6PZN5, Q92185, Q93064
      Related
      ENSP00000379353.3, ENST00000396037.9
      Conserved Domains (1) summary
      pfam00777
      Location:92 → 344
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      22193391..22334707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      22071418..22212735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92185.1 GenPept UniProtKB/Swiss-Prot:Q92185

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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