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

Gene ID: 256435, updated on 2-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
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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 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

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