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    ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 256435, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ST6GALNAC3provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:19343
    See related
    Ensembl:ENSG00000184005 MIM:610133; AllianceGenome:HGNC:19343
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STY; SIAT7C; PRO7177; ST6GALNACIII
    Summary
    ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in thyroid (RPKM 2.3), kidney (RPKM 1.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ST6GALNAC3 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (76074746..76637339)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (75912700..76475062)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76540431..77103024)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927342 Neighboring gene uncharacterized LOC124904200 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:76518436-76518936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1000 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:76696789-76697289 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:76699991-76700490 Neighboring gene Sharpr-MPRA regulatory region 8716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:76745209-76745708 Neighboring gene NANOG hESC enhancer GRCh37_chr1:76768829-76769468 Neighboring gene peroxiredoxin 5 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:76828040-76828540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1210 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:76929871-76931070 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:76967249-76967973 Neighboring gene uncharacterized LOC105378807 Neighboring gene uncharacterized LOC124904201 Neighboring gene Sharpr-MPRA regulatory region 3313 Neighboring gene triosephosphate isomerase 1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 161, pseudogene

    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
    • 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. Molecular cloning and expression of human ST6GalNAc III: restricted tissue distribution and substrate specificity. Tsuchida A, et al. J Biochem, 2005 Sep. PMID 16169874
    2. Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies. Haldrup C, et al. Mol Oncol, 2018 Apr. PMID 29465788, Free PMC Article
    3. Depletion of ST6GALNACIII retards A549 non-small cell lung cancer cell proliferation by downregulating transferrin receptor protein 1 expression. Jung SY, et al. Biochem Biophys Res Commun, 2021 Oct 20. PMID 34461439
    4. Genome-wide association study of circulating vitamin D-binding protein. Moy KA, et al. Am J Clin Nutr, 2014 Jun. PMID 24740207, Free PMC Article
    5. Genome-wide association identifies candidate genes that influence the human electroencephalogram. Hodgkinson CA, et al. Proc Natl Acad Sci U S A, 2010 May 11. PMID 20421487, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Depletion of ST6GALNACIII retards A549 non-small cell lung cancer cell proliferation by downregulating transferrin receptor protein 1 expression.
      Title: Depletion of ST6GALNACIII retards A549 non-small cell lung cancer cell proliferation by downregulating transferrin receptor protein 1 expression.
    2. Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies.
      Title: Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies.
    3. genome-wide association study in population in Finland: Data suggest that one SNP in ST6GALNAC3 (rs12144344) and two SNPs in VDBP (vitamin D binding protein; rs7041, rs705117) are associated with serum levels of VDBP in the male population studied.
      Title: Genome-wide association study of circulating vitamin D-binding protein.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association identifies candidate genes that influence the human electroencephalogram.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    7. Results describe the molecular cloning and expression of human ST6GalNAc III, including its tissue distribution and substrate specificity.
      Title: Molecular cloning and expression of human ST6GalNAc III: restricted tissue distribution and substrate specificity.
    Submit: New GeneRIF Correction

    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
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Genome-wide association study of circulating vitamin D-binding protein.
    EBI GWAS Catalog
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    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)

    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

    Clone Names

    • FLJ13669, FLJ27239

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in ganglioside biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoprotein metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosphingolipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosylceramide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
    Names
    GalNAc alpha-2,6-sialyltransferase III
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
    ST6 GalNAc alpha-2,6-sialyltransferase 3
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C
    sialyltransferase 7C
    NP_001153483.1
    NP_001336034.1
    NP_001336035.1
    NP_001336036.1
    NP_001336037.1
    NP_001336038.1
    NP_001336039.1
    NP_001336040.1
    NP_694541.2
    XP_016856426.1
    XP_016856428.1
    XP_016856430.1
    XP_047273051.1
    XP_047273055.1
    XP_054191784.1
    XP_054191785.1
    XP_054191786.1
    XP_054191787.1
    XP_054191788.1

    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_001160011.3 → NP_001153483.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 2

      See identical proteins and their annotated locations for NP_001153483.1

      Status: VALIDATED

      Source sequence(s)
      AY358540, BC039520
      UniProtKB/Swiss-Prot
      Q8NDV1
      Conserved Domains (1) summary
      pfam00777
      Location:70 → 135
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_001349105.2 → NP_001336034.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC104458, AK297363
      UniProtKB/TrEMBL
      B4DM98
      Conserved Domains (1) summary
      pfam00777
      Location:5 → 194
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    3. NM_001349106.2 → NP_001336035.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:3 → 207
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    4. NM_001349107.2 → NP_001336036.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:70 → 259
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    5. NM_001349108.2 → NP_001336037.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:5 → 230
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    6. NM_001349109.3 → NP_001336038.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:70 → 135
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    7. NM_001349110.2 → NP_001336039.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC098655, AC103592
      Conserved Domains (1) summary
      pfam00777
      Location:70 → 135
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    8. NM_001349111.2 → NP_001336040.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:82 → 307
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    9. NM_152996.4 → NP_694541.2  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 1

      See identical proteins and their annotated locations for NP_694541.2

      Status: VALIDATED

      Source sequence(s)
      AC104458, BC059363, DA800675
      Consensus CDS
      CCDS672.1
      UniProtKB/Swiss-Prot
      Q6PCE0, Q6UX29, Q8N259, Q8NDV1
      Related
      ENSP00000329214.3, ENST00000328299.4
      Conserved Domains (1) summary
      pfam00777
      Location:77 → 295
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_146056.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC098655, AC103592, AC104458

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      76074746..76637339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417095.1 → XP_047273051.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X2

    2. XM_047417099.1 → XP_047273055.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4

    3. XM_017000939.2 → XP_016856428.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X3

    4. XM_017000937.3 → XP_016856426.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X1

    5. XM_017000941.3 → XP_016856430.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X5

      Conserved Domains (1) summary
      pfam00777
      Location:3 → 207
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      75912700..76475062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335810.1 → XP_054191785.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X2

    2. XM_054335812.1 → XP_054191787.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4

    3. XM_054335811.1 → XP_054191786.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X3

    4. XM_054335809.1 → XP_054191784.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X1

    5. XM_054335813.1 → XP_054191788.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDV1.1 GenPept UniProtKB/Swiss-Prot:Q8NDV1

    Gene LinkOut

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