ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ST8SIA1provided by HGNC
Official Full Name: ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:10869
See related: Ensembl:ENSG00000111728 MIM:601123; AllianceGenome:HGNC:10869
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: GD3S; SIAT8; SIAT8A; SIAT8-A; ST8SiaI
Summary: Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
Expression: Broad expression in brain (RPKM 1.5), adrenal (RPKM 0.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (22193391..22334707, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (22071418..22212735, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (22346325..22487641, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1.
Title: The yes-associated protein (YAP) is associated with resistance to anti-GD2 immunotherapy in neuroblastoma through downregulation of ST8SIA1.
Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells.
Title: Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells.
Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
Title: Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1.
Title: BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1.
Knockdown of lncRNA MIR44352HG and ST8SIA1 expression inhibits the proliferation, invasion and migration of prostate cancer cells in vitro and in vivo by blocking the activation of the FAK/AKT/betacatenin signaling pathway.
Title: Knockdown of lncRNA MIR4435‑2HG and ST8SIA1 expression inhibits the proliferation, invasion and migration of prostate cancer cells in vitro and in vivo by blocking the activation of the FAK/AKT/β‑catenin signaling pathway.
ST8SIA1 inhibition sensitizes triple negative breast cancer to chemotherapy via suppressing Wnt/beta-catenin and FAK/Akt/mTOR.
Title: ST8SIA1 inhibition sensitizes triple negative breast cancer to chemotherapy via suppressing Wnt/β-catenin and FAK/Akt/mTOR.
Comprehensive Transcriptomic Analysis Identifies ST8SIA1 as a Survival-Related Sialyltransferase Gene in Breast Cancer.
Title: Comprehensive Transcriptomic Analysis Identifies ST8SIA1 as a Survival-Related Sialyltransferase Gene in Breast Cancer.
TNFalpha-signal and cAMP-mediated signals oppositely regulate melanoma- associated ganglioside GD3 synthase gene in human melanocytes.
Title: TNFα-signal and cAMP-mediated signals oppositely regulate melanoma- associated ganglioside GD3 synthase gene in human melanocytes.
genetic variants at the genes SSH1 and ST8SIA1 were related to the genetic predisposition to early-onset periodontitis that is in part triggered by smoking
Title: Smoking Modifies the Genetic Risk for Early-Onset Periodontitis.
these data demonstrate the mechanism by which ST8SIA1 regulates tumor growth and metastasis in triple-negative breast cancer.
Title: ST8SIA1 Regulates Tumor Growth and Metastasis in TNBC by Activating the FAK-AKT-mTOR Signaling Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62408 (e-PCR)
- UniSTS:139284

G62291 (e-PCR)
- UniSTS:139285

G62294 (e-PCR)
- UniSTS:139308

STS-X77922 (e-PCR)
- UniSTS:54839

D10S16 (e-PCR)
- UniSTS:155756

SHGC-151275 (e-PCR)
- UniSTS:173694

SHGC-152564 (e-PCR)
- UniSTS:177556

SHGC-132098 (e-PCR)
- UniSTS:170645

D17S610 (e-PCR)
- UniSTS:46230

RH118528 (e-PCR)
- UniSTS:137926

RH69610 (e-PCR)
- UniSTS:32721

D12S1688 (e-PCR)
- UniSTS:47079

NoName (e-PCR)
- UniSTS:36840

D12S799 (e-PCR)
- UniSTS:73967

SHGC-12597 (e-PCR)
- UniSTS:19708

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sialyltransferase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to heat	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in oligosaccharide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-N-acetylneuraminide alpha-2,8-sialyltransferase

Names: ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1; alpha-2,8-sialyltransferase 8A; disialoganglioside (GD3) synthase; ganglioside GD3 synthase; ganglioside GT3 synthase; ganglioside-specific alpha-2,8-polysialyltransferase; sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A; sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase); sialyltransferase St8Sia I; sialytransferase St8Sia I

NP_001291379.1

EC 2.4.3.8

NP_003025.1

EC 2.4.3.8

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)

NM_001304450.2 → NP_001291379.1 alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 2

See identical proteins and their annotated locations for NP_001291379.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, which results in translation initiation at an alternate downstream AUG codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC007671, BM929838, EU041716

UniProtKB/TrEMBL

B4DM64

Conserved Domains (1) summary

pfam00777
Location:21 → 201

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
NM_003034.4 → NP_003025.1 alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform 1

See identical proteins and their annotated locations for NP_003025.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC007671, BC117285, BM929838, X77922

Consensus CDS

CCDS8697.1

UniProtKB/Swiss-Prot

A8K4H6, Q17RL0, Q6PZN5, Q92185, Q93064

Related

ENSP00000379353.3, ENST00000396037.9

Conserved Domains (1) summary

pfam00777
Location:92 → 344

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)