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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p31.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (76074746..76637339)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (75912700..76475062)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (76540431..77103024)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed
Genome-wide association study of circulating vitamin D-binding protein. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of liver enzymes in korean children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-75038 (e-PCR)
- UniSTS:57605

SHGC-111202 (e-PCR)
- UniSTS:168216

RH64528 (e-PCR)
- UniSTS:66344

SHGC-144656 (e-PCR)
- UniSTS:172335

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D1S3019 (e-PCR)
- UniSTS:63026

PMC156606P4 (e-PCR)
- UniSTS:271411

RH103785 (e-PCR)
- UniSTS:98110

SHGC-75024 (e-PCR)
- UniSTS:42048

SHGC-155495 (e-PCR)
- UniSTS:182090

SHGC-155511 (e-PCR)
- UniSTS:182093

WI-18271 (e-PCR)
- UniSTS:80463

AL009657 (e-PCR)
- UniSTS:70750

RH120983 (e-PCR)
- UniSTS:133740

D2S1931E (e-PCR)
- UniSTS:153716

SHGC-106925 (e-PCR)
- UniSTS:181895

SHGC-145707 (e-PCR)
- UniSTS:174738

SIAT7C__5410 (e-PCR)
- UniSTS:464545

D1S1573 (e-PCR)
- UniSTS:36780

SHGC-112145 (e-PCR)
- UniSTS:181934

SHGC-148305 (e-PCR)
- UniSTS:176310

AL009701 (e-PCR)
- UniSTS:80341

SHGC-75027 (e-PCR)
- UniSTS:63191

SHGC-133035 (e-PCR)
- UniSTS:170985

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

Go to the top of the page Help

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

EC 2.4.3.7

NP_001336034.1

EC 2.4.3.7

NP_001336035.1

EC 2.4.3.7

NP_001336036.1

EC 2.4.3.7

NP_001336037.1

EC 2.4.3.7

NP_001336038.1

EC 2.4.3.7

NP_001336039.1

EC 2.4.3.7

NP_001336040.1

EC 2.4.3.7

NP_694541.2

EC 2.4.3.7

XP_016856426.1

EC 2.4.3.7

XP_016856428.1

EC 2.4.3.7

XP_016856430.1

EC 2.4.3.7

XP_047273051.1

EC 2.4.3.7

XP_047273055.1

EC 2.4.3.7

XP_054191784.1

EC 2.4.3.7

XP_054191785.1

EC 2.4.3.7

XP_054191786.1

EC 2.4.3.7

XP_054191787.1

EC 2.4.3.7

XP_054191788.1

EC 2.4.3.7

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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)
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)
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)
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)
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)
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)
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)
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)
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

NR_146056.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC092813, AC098655, AC103592, AC104458

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

76074746..76637339

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417095.1 → XP_047273051.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X2
XM_047417099.1 → XP_047273055.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4
XM_017000939.2 → XP_016856428.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X3
XM_017000937.3 → XP_016856426.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X1
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

75912700..76475062

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335810.1 → XP_054191785.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X2
XM_054335812.1 → XP_054191787.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4
XM_054335811.1 → XP_054191786.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X3
XM_054335809.1 → XP_054191784.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X1
XM_054335813.1 → XP_054191788.1 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X5