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    ST6GALNAC1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 55808, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ST6GALNAC1provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:23614
    See related
    Ensembl:ENSG00000070526 MIM:610138; AllianceGenome:HGNC:23614
    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
    STYI; SIAT7A; HSY11339; ST6GalNAcI
    Summary
    Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in colon (RPKM 93.3), small intestine (RPKM 34.8) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ST6GALNAC1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76617407..76643757, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77513932..77540529, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74620845..74639839, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74562840-74563340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74563341-74563841 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Neighboring gene small nucleolar RNA, C/D box 1A Neighboring gene testis-specific serine/proline-rich protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74565599-74566100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582247-74582928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582929-74583609 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:74597314-74598513 Neighboring gene NANOG hESC enhancer GRCh37_chr17:74602073-74602593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:74607181-74607687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74608196-74608702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74623019-74623520 Neighboring gene prothymosin alpha pseudogene 13 Neighboring gene RNA, U6 small nuclear 227, 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 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. The ST6GalNAc-I sialyltransferase localizes throughout the Golgi and is responsible for the synthesis of the tumor-associated sialyl-Tn O-glycan in human breast cancer. Sewell R, et al. J Biol Chem, 2006 Feb 10. PMID 16319059
    2. Expression of sialyl-Tn antigen in breast cancer cells transfected with the human CMP-Neu5Ac: GalNAc alpha2,6-sialyltransferase (ST6GalNac I) cDNA. Julien S, et al. Glycoconj J, 2001 Nov-Dec. PMID 12820722
    3. Cloning and expression of a human gene encoding an N-acetylgalactosamine-alpha2,6-sialyltransferase (ST6GalNAc I): a candidate for synthesis of cancer-associated sialyl-Tn antigens. Ikehara Y, et al. Glycobiology, 1999 Nov. PMID 10536037
    4. Downregulation of ST6GALNAC1 is associated with esophageal squamous cell carcinoma development. Iwaya T, et al. Int J Oncol, 2017 Feb. PMID 28035351
    5. RNAi-mediated gene silencing of ST6GalNAc I suppresses the metastatic potential in gastric cancer cells. Tamura F, et al. Gastric Cancer, 2016 Jan. PMID 25532910

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mucus sialylation determines intestinal host-commensal homeostasis.
      Title: Mucus sialylation determines intestinal host-commensal homeostasis.
    2. ST6GalNAc-I promotes lung cancer metastasis by altering MUC5AC sialylation.
      Title: ST6GalNAc-I promotes lung cancer metastasis by altering MUC5AC sialylation.
    3. Cross-talk between Colon Cells and Macrophages Increases ST6GALNAC1 and MUC1-sTn Expression in Ulcerative Colitis and Colitis-Associated Colon Cancer.
      Title: Cross-talk between Colon Cells and Macrophages Increases ST6GALNAC1 and MUC1-sTn Expression in Ulcerative Colitis and Colitis-Associated Colon Cancer.
    4. Sialyltransferase7A promotes angiotensin II-induced cardiomyocyte hypertrophy via HIF-1alpha-TAK1 signalling pathway.
      Title: Sialyltransferase7A promotes angiotensin II-induced cardiomyocyte hypertrophy via HIF-1α-TAK1 signalling pathway.
    5. Our results indicated that ST6GALNAC1 was downregulated in sporadic esophageal squamous cell carcinoma via hyper-methylation and loss of heterozygosity , and it may be a candidate responsible gene for esophageal squamous cell carcinoma
      Title: Downregulation of ST6GALNAC1 is associated with esophageal squamous cell carcinoma development.
    6. ST6GalNAc I regulates the gene expression of IGF-1 through STAT5b activation and plays role in gastric cancer invasion and metastasis.
      Title: RNAi-mediated gene silencing of ST6GalNAc I suppresses the metastatic potential in gastric cancer cells.
    7. upregulated Siat7A expression, which was paralleled by the increased Klf4 in the ischemic myocardium, contributed to cardiomyocyte apoptosis following myocardial infarction
      Title: Sialyltransferase7A, a Klf4-responsive gene, promotes cardiomyocyte apoptosis during myocardial infarction.
    8. Using qRT-PCR, sialyl-Tn expression was found to be associated with an increase in alpha2,6-sialyltransferase gene (ST6GALNAC1) and a decrease in core 1 synthase gene (C1GALT1) in LS174T cells.
      Title: Comprehensive glycomics comparison between colon cancer cell cultures and tumours: implications for biomarker studies.
    9. It was confirmed that MUC1 carries sialyl Tn also in human advanced gastric cancer tissues
      Title: Enhancement of metastatic ability by ectopic expression of ST6GalNAcI on a gastric cancer cell line in a mouse model.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sialyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in host-mediated regulation of intestinal microbiota composition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oligosaccharide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
    Names
    GalNAc alpha-2, 6-sialyltransferase I, long form
    SIAT7-A
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
    ST6 GalNAc alpha-2,6-sialyltransferase 1
    ST6GALNAC1, alpha-2,6-sialyltransferase 1
    ST6GalNAc I
    galNAc alpha-2,6-sialyltransferase I
    hST6GalNAc-I
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A
    sialyltransferase 7A
    NP_001276036.1
    NP_060884.1
    XP_011523297.1
    XP_011523298.1
    XP_016880332.1
    XP_054172626.1
    XP_054172627.1
    XP_054172628.1

    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_001289107.2 → NP_001276036.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001276036.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      BC063830, DA594489
      Conserved Domains (1) summary
      pfam00777
      Location:171 → 457
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_018414.5 → NP_060884.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_060884.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY358918, DA594489
      Consensus CDS
      CCDS11748.1
      UniProtKB/Swiss-Prot
      Q6UW90, Q9NSC6, Q9NSC7
      Related
      ENSP00000156626.6, ENST00000156626.12
      Conserved Domains (1) summary
      pfam00777
      Location:303 → 589
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_110309.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY358918, BC022462, DA594489
      Related
      ENST00000359088.9

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76617407..76643757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524996.3 → XP_011523298.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X2

      Conserved Domains (1) summary
      pfam00777
      Location:303 → 519
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. XM_011524995.4 → XP_011523297.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X1

      Conserved Domains (1) summary
      pfam00777
      Location:303 → 519
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    3. XM_017024843.2 → XP_016880332.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X3

      UniProtKB/TrEMBL
      G3XAD9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77513932..77540529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316652.1 → XP_054172627.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X2

    2. XM_054316651.1 → XP_054172626.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X1

    3. XM_054316653.1 → XP_054172628.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSC7.1 GenPept UniProtKB/Swiss-Prot:Q9NSC7

    Gene LinkOut

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

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