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ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [ Homo sapiens (human) ]

Gene ID: 29906, updated on 11-Apr-2024

Summary

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Official Symbol
ST8SIA5provided by HGNC
Official Full Name
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5provided by HGNC
Primary source
HGNC:HGNC:17827
See related
Ensembl:ENSG00000101638 MIM:607162; AllianceGenome:HGNC:17827
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
SIAT8E; SIAT8-E; ST8SiaV
Summary
The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]
Expression
Biased expression in adrenal (RPKM 3.3), brain (RPKM 3.3) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
18q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46667821..46757053, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46858373..46947691, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44247784..44337016, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3132 silencer Neighboring gene MPRA-validated peak3133 silencer Neighboring gene lipoxygenase homology PLAT domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44237431-44238380 Neighboring gene uncharacterized LOC105372096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44255923-44256770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44256771-44257616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44297037-44297823 Neighboring gene ribosomal protein S21 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9420 Neighboring gene ST8SIA5 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr18:44374579-44375080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13281 Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene ubiquitin specific peptidase 4 (proto-oncogene) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047 Neighboring gene uncharacterized LOC124904294

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
  • 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. Ganglioside metabolism in a transgenic mouse model of Alzheimer's disease: expression of Chol-1α antigens in the brain. Ariga T, et al. ASN Neuro, 2010 Oct 4. PMID 20930939, Free PMC Article
  2. Molecular cloning and expression of human alpha2,8-sialyltransferase (hST8Sia V). Kim YJ, et al. Biochem Biophys Res Commun, 1997 Jun 18. PMID 9199191
  3. Upregulated lnc‑HRK‑2:1 prompts nucleus pulposus cell senescence in intervertebral disc degeneration. Liang D, et al. Mol Med Rep, 2020 Dec. PMID 33174041, Free PMC Article
  4. Isolation of chromosome 18-specific brain transcripts as positional candidates for bipolar disorder. Yoshikawa T, et al. Am J Med Genet, 1997 Apr 18. PMID 9129712
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Upregulated lncHRK2:1 prompts nucleus pulposus cell senescence in intervertebral disc degeneration.
    Title: Upregulated lnc‑HRK‑2:1 prompts nucleus pulposus cell senescence in intervertebral disc degeneration.
  2. Chol-1alpha antigens (cholinergic neuron-specific gangliosides), such as GT1aalpha and GQ1balpha, which are minor species in the brain, are increased in the double-transgenic mouse brain.
    Title: Ganglioside metabolism in a transgenic mouse model of Alzheimer's disease: expression of Chol-1α antigens in the brain.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • MGC119670, MGC119671

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 TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sialyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 glycosphingolipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycosphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alpha-2,8-sialyltransferase 8E
Names
ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 5
sialyltransferase 8E (alpha-2, 8-polysialytransferase)
sialyltransferase St8Sia V
NP_001294915.1
NP_001294916.1
NP_037437.2

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_001307986.2 → NP_001294915.1  alpha-2,8-sialyltransferase 8E isoform 1

    See identical proteins and their annotated locations for NP_001294915.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC064800, AC090311, AK056270, AK293608, U55966
    Consensus CDS
    CCDS77184.1
    UniProtKB/TrEMBL
    B7Z5F7
    Related
    ENSP00000445492.1, ENST00000538168.5
    Conserved Domains (1) summary
    pfam00777
    Location:153 → 406
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

  2. NM_001307987.2 → NP_001294916.1  alpha-2,8-sialyltransferase 8E isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC064800, AC090311, AK056270, AK298881, U55966
    Consensus CDS
    CCDS77183.1
    UniProtKB/TrEMBL
    B7Z5F7, F5H8D1
    Related
    ENSP00000443683.1, ENST00000536490.1
    Conserved Domains (1) summary
    pfam00777
    Location:86 → 339
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

  3. NM_013305.6 → NP_037437.2  alpha-2,8-sialyltransferase 8E isoform 2

    See identical proteins and their annotated locations for NP_037437.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC064800, AC090311, AK056270, U55966
    Consensus CDS
    CCDS11930.1
    UniProtKB/Swiss-Prot
    B7Z1K9, O15466, Q6IAW7
    UniProtKB/TrEMBL
    B7Z5F7
    Related
    ENSP00000321343.6, ENST00000315087.12
    Conserved Domains (1) summary
    pfam00777
    Location:117 → 370
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

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

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    46667821..46757053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    46858373..46947691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15466.2 GenPept UniProtKB/Swiss-Prot:O15466

Gene LinkOut

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