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

Gene ID: 6489, updated on 19-Sep-2021

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
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
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Genomic context

See ST8SIA1 in Genome Data Viewer
Location:
12p12.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (22193391..22334707, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22346325..22487641, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369690 Neighboring gene cytidine monophosphate N-acetylneuraminic acid synthetase Neighboring gene sulfotransferase family 6B member 2, pseudogene Neighboring gene RNA, U1 small nuclear 149, pseudogene Neighboring gene uncharacterized LOC112268093 Neighboring gene uncharacterized LOC105369151 Neighboring gene C2 calcium dependent domain containing 5 Neighboring gene leucine rich repeat containing 34 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
GeneReviews: Not available
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 glycosphingolipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
involved_in oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in sialylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_003025.1

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_001304450.2NP_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/Swiss-Prot
    Q92185
    Conserved Domains (1) summary
    pfam00777
    Location:21201
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  2. NM_003034.4NP_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
    Q92185
    Related
    ENSP00000379353.3, ENST00000396037.9
    Conserved Domains (1) summary
    pfam00777
    Location:92344
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    22193391..22334707 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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