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

Gene ID: 55808, updated on 2-Nov-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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

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

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