ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ST6GAL1provided by HGNC
Official Full Name: ST6 beta-galactoside alpha-2,6-sialyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:10860
See related: Ensembl:ENSG00000073849 MIM:109675; AllianceGenome:HGNC:10860
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ST6N; CDw75; SIAT1; ST6GalI
Summary: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Expression: Broad expression in liver (RPKM 87.7), lymph node (RPKM 37.8) and 18 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3q27.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186930526..187078553)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189748335..189896308)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186648315..186796341)

Chromosome 3 - NC_000003.12 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?

Evaluation of ST6Gal1 expression and clinicopathological significance in human glioma.
Title: Evaluation of ST6Gal1 expression and clinicopathological significance in human glioma.
N-linked alpha2,6-sialylation of integrin beta1 by the sialyltransferase ST6Gal1 promotes cell proliferation and stemness in gestational trophoblastic disease.
Title: N-linked α2,6-sialylation of integrin β1 by the sialyltransferase ST6Gal1 promotes cell proliferation and stemness in gestational trophoblastic disease.
ST6GAL1 sialyltransferase promotes acinar to ductal metaplasia and pancreatic cancer progression.
Title: ST6GAL1 sialyltransferase promotes acinar to ductal metaplasia and pancreatic cancer progression.
CCCTC-binding factor: the specific transcription factor of beta-galactoside alpha-2,6-sialyltransferase 1 that upregulates the sialylation of anti-citrullinated protein antibodies in rheumatoid arthritis.
Title: CCCTC-binding factor: the specific transcription factor of β-galactoside α-2,6-sialyltransferase 1 that upregulates the sialylation of anti-citrullinated protein antibodies in rheumatoid arthritis.
Sialylation of EGFR by ST6GAL1 induces receptor activation and modulates trafficking dynamics.
Title: Sialylation of EGFR by ST6GAL1 induces receptor activation and modulates trafficking dynamics.
Role of ST6GAL1 in Thyroid Cancers: Insights from Tissue Analysis and Genomic Datasets.
Title: Role of ST6GAL1 in Thyroid Cancers: Insights from Tissue Analysis and Genomic Datasets.
Role of the ST6GAL1 sialyltransferase in regulating ovarian cancer cell metabolism.
Title: Role of the ST6GAL1 sialyltransferase in regulating ovarian cancer cell metabolism.
ST6GAL1-mediated aberrant sialylation promotes prostate cancer progression.
Title: ST6GAL1-mediated aberrant sialylation promotes prostate cancer progression.
ST6GAL1 inhibits metastasis of hepatocellular carcinoma via modulating sialylation of MCAM on cell surface.
Title: ST6GAL1 inhibits metastasis of hepatocellular carcinoma via modulating sialylation of MCAM on cell surface.
Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines.
Title: Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines.

Submit: New GeneRIF Correction See all GeneRIFs (97)

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
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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

D3S3897 (e-PCR)
- UniSTS:20573

RH16625 (e-PCR)
- UniSTS:12393

G66759 (e-PCR)
- UniSTS:166785

GDB:252090 (e-PCR)
- UniSTS:156326

STS-X17247 (e-PCR)
- UniSTS:26557

STS-R00114 (e-PCR)
- UniSTS:58346

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-galactoside alpha-2,6-sialyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-galactoside alpha-2,6-sialyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-galactoside alpha-2,6-sialyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay 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 N-acetylneuraminate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in humoral immune response	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mononuclear cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in protein N-linked glycosylation via asparagine	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation via asparagine	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in sialylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in sialylation	IDA Inferred from Direct Assay more info	PubMed
involved_in viral protein processing	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi medial cisterna	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in Golgi trans cisterna	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: beta-galactoside alpha-2,6-sialyltransferase 1

Names: B-cell antigen CD75; CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1; ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; ST6 beta-galactosamide alpha-2,6-sialyltranferase 1; alpha 2,6-ST 1; sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase)

NP_001340845.1

EC 2.4.3.1

NP_003023.1

EC 2.4.3.1

NP_775323.1

EC 2.4.3.1

NP_775324.1

EC 2.4.3.1

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_001353916.2 → NP_001340845.1 beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein (isoform a).

Source sequence(s)

AC007488, AC007690

Consensus CDS

CCDS3285.1

UniProtKB/Swiss-Prot

A8KA14, B2R513, D3DNV3, P15907

Related

ENSP00000504448.1, ENST00000676633.1

Conserved Domains (1) summary

pfam00777
Location:169 → 384

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_003032.3 → NP_003023.1 beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

See identical proteins and their annotated locations for NP_003023.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR (PMID: 8724135). Variant 2 is expressed in mature B lymphocytes and variants 1, 2 and 4 encode the same protein (isoform a).

Source sequence(s)

AC007488, AC007690

Consensus CDS

CCDS3285.1

UniProtKB/Swiss-Prot

A8KA14, B2R513, D3DNV3, P15907

Related

ENSP00000389337.1, ENST00000448044.5

Conserved Domains (1) summary

pfam00777
Location:169 → 384

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_173216.2 → NP_775323.1 beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

See identical proteins and their annotated locations for NP_775323.1

Status: REVIEWED

Source sequence(s)

AC007488, AC007690, DB152155, X17247

Consensus CDS

CCDS3285.1

UniProtKB/Swiss-Prot

A8KA14, B2R513, D3DNV3, P15907

Related

ENSP00000169298.3, ENST00000169298.8

Conserved Domains (1) summary

pfam00777
Location:169 → 384

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_173217.2 → NP_775324.1 beta-galactoside alpha-2,6-sialyltransferase 1 isoform b

See identical proteins and their annotated locations for NP_775324.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks the exon containing the translation start site compared to variant 1, resulting in an isoform (b) with a shorter N-terminus compared to isoform a. Isoform b is likely to be a soluble rather than membrane-bound protein.

Source sequence(s)

AC007488, BC040009, DB152155, DB235666

Consensus CDS

CCDS46973.1

UniProtKB/Swiss-Prot

P15907

Related

ENSP00000412221.2, ENST00000457772.6

Conserved Domains (1) summary

pfam00777
Location:24 → 153

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)