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ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [ Homo sapiens (human) ]

Gene ID: 7903, updated on 20-Apr-2024

Summary

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Official Symbol
ST8SIA4provided by HGNC
Official Full Name
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4provided by HGNC
Primary source
HGNC:HGNC:10871
See related
Ensembl:ENSG00000113532 MIM:602547; AllianceGenome:HGNC:10871
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
PST; PST1; SIAT8D; SIAT8-D; ST8SiaIV; ST8SIA-IV
Summary
The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in appendix (RPKM 6.6), lymph node (RPKM 4.8) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
5q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (100806933..100903282, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (101315265..101411539, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (100142637..100238986, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22843 Neighboring gene family with sequence similarity 174 member A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16206 Neighboring gene MPRA-validated peak5372 silencer Neighboring gene MPRA-validated peak5373 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:100058179-100058822 Neighboring gene RN7SK pseudogene 62 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:100112471-100113670 Neighboring gene NANOG hESC enhancer GRCh37_chr5:100121674-100122204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22848 Neighboring gene microRNA 548p Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:100236435-100236936 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:100238074-100238643 Neighboring gene uncharacterized LOC107986437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:100516072-100516644 Neighboring gene uncharacterized LOC107986438 Neighboring gene general transcription factor IIIA pseudogene 4

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. ST8SIA4-Dependent Polysialylation is Part of a Developmental Program Required for Germ Layer Formation from Human Pluripotent Stem Cells. Berger RP, et al. Stem Cells, 2016 Jul. PMID 27074314, Free PMC Article
  2. Sequences prior to conserved catalytic motifs of polysialyltransferase ST8Sia IV are required for substrate recognition. Zapater JL, et al. J Biol Chem, 2012 Feb 24. PMID 22184126, Free PMC Article
  3. Unique disulfide bond structures found in ST8Sia IV polysialyltransferase are required for its activity. Angata K, et al. J Biol Chem, 2001 May 4. PMID 11279095
  4. Polysialyltransferase-1 autopolysialylation is not requisite for polysialylation of neural cell adhesion molecule. Close BE, et al. J Biol Chem, 2000 Feb 11. PMID 10660622
  5. Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4. Mori A, et al. Glycobiology, 2017 Sep 1. PMID 28810663

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of a buried beta-strand as a novel disease-related motif in the human polysialyltransferases.
    Title: Identification of a buried β-strand as a novel disease-related motif in the human polysialyltransferases.
  2. Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4 have been described.
    Title: Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4.
  3. our results demonstrate that miR-146a and miR-146b promote proliferation, migration and invasion of FTC via inhibition of ST8SIA4.
    Title: miR-146a and miR-146b promote proliferation, migration and invasion of follicular thyroid carcinoma via inhibition of ST8SIA4.
  4. Data show that miR-181c was inversely correlated with the levels of ST8SIA4 expression in chronic myelocytic leukemia (CML) cell lines and samples.
    Title: Upregulation of miR-181c inhibits chemoresistance by targeting ST8SIA4 in chronic myelocytic leukemia.
  5. This is the first report to demonstrate a role for a glycosyltransferase in human pluripotent stem cell lineage specification.
    Title: ST8SIA4-Dependent Polysialylation is Part of a Developmental Program Required for Germ Layer Formation from Human Pluripotent Stem Cells.
  6. changes in the glycosylation patterns and sialylation levels may be useful markers of the progression of breast cancer, as well as miR-26a/26b may be widely involved in the regulation of sialylation machinery by targeting ST8SIA4.
    Title: Functional roles of sialylation in breast cancer progression through miR-26a/26b targeting ST8SIA4.
  7. The polybasic region of the polysialyltransferase ST8Sia-IV binds directly to NCAM.
    Title: The Polybasic Region of the Polysialyltransferase ST8Sia-IV Binds Directly to the Neural Cell Adhesion Molecule, NCAM.
  8. Sequence Requirements for Neuropilin-2 Recognition by ST8SiaIV and Polysialylation of Its O-Glycans.
    Title: Sequence Requirements for Neuropilin-2 Recognition by ST8SiaIV and Polysialylation of Its O-Glycans.
  9. ST8SIA4 gene is involved in the development of multidrug resistance via PI3K/Akt pathway in chronic myeloid leukemia.
    Title: α-2,8-Sialyltransferase Is Involved in the Development of Multidrug Resistance via PI3K/Akt Pathway in Human Chronic Myeloid Leukemia.
  10. this study indicated that sialylation involved in the development of MDR of AML cells probably through ST3GAL5 or ST8SIA4 regulating the activity of PI3K/Akt signaling and the expression of P-gp and MRP1.
    Title: Modification of sialylation is associated with multidrug resistance in human acute myeloid leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
EBI GWAS Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that ST8SIA4 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with ST8SIA4 PubMed

Go to the HIV-1, Human Interaction Database

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

  • MGC34450, MGC61459

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 sialic acid binding IC
Inferred by Curator
more info
 PubMed 
enables sialyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in N-glycan processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ganglioside biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oligosaccharide metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein modification process TAS
Traceable Author Statement
more info
 PubMed 
involved_in sialylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase
Names
CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase
ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4
alpha-2,8-sialyltransferase 8D
polysialyltransferase
polysialyltransferase-1
sialyltransferase 8 (alpha-2, 8-polysialytransferase) D
sialyltransferase 8D
sialyltransferase St8Sia IV
sialytransferase St8Sia IV
NP_005659.1
NP_778222.1
XP_005272135.1
XP_011541932.1
XP_054209412.1
XP_054209413.1

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_005668.6 → NP_005659.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform a precursor

    See identical proteins and their annotated locations for NP_005659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA836260, AC117530, AK292872, DA862968
    Consensus CDS
    CCDS4091.1
    UniProtKB/Swiss-Prot
    A8KA07, G3V104, Q8N1F4, Q92187, Q92693
    Related
    ENSP00000231461.4, ENST00000231461.10
    Conserved Domains (1) summary
    pfam00777
    Location:94 → 353
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

  2. NM_175052.3 → NP_778222.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform b precursor

    See identical proteins and their annotated locations for NP_778222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and its transcription extends past a splice site that is used in variant 1, resulting in a shorter 3' coding region and a novel 3' UTR compared to variant 1. It encodes isoform b which is truncated at the C-terminus, compared to isoform a.
    Source sequence(s)
    BC027866, DA862968
    Consensus CDS
    CCDS47252.1
    UniProtKB/Swiss-Prot
    Q92187
    Related
    ENSP00000428914.1, ENST00000451528.2
    Conserved Domains (1) summary
    pfam00777
    Location:94 → 168
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    100806933..100903282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543630.3 → XP_011541932.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform X2

    Conserved Domains (1) summary
    pfam00777
    Location:94 → 255
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

  2. XM_005272078.4 → XP_005272135.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform X1

    Conserved Domains (1) summary
    pfam00777
    Location:94 → 262
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    101315265..101411539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353438.1 → XP_054209413.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform X2

  2. XM_054353437.1 → XP_054209412.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92187.1 GenPept UniProtKB/Swiss-Prot:Q92187

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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