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

    Gene ID: 7903, updated on 15-Apr-2019

    Summary

    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
    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; 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

    Genomic context

    See ST8SIA4 in Genome Data Viewer
    Location:
    5q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (100806935..100903285, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (100142639..100238989, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 174 member A Neighboring gene RN7SK pseudogene 62 Neighboring gene microRNA 548p Neighboring gene uncharacterized LOC107986437 Neighboring gene uncharacterized LOC107986438 Neighboring gene general transcription factor IIIA pseudogene 4

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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 BioSystems

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem (from REACTOME)
      Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystemN-linked glycosylation commences with the 14-step synthesis of a dolichol lipid-linked oligosaccharide (LLO) consisting of 14 sugars (2 core GlcNAcs, 9 mannoses and 3 terminal GlcNAcs). This pathway ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Sialic acid metabolism, organism-specific biosystem (from REACTOME)
      Sialic acid metabolism, organism-specific biosystemSialic acids are a family of 9 carbon alpha-keto acids that are usually present in the non reducing terminal of glycoconjuates on the cell surface of eukaryotic cells. These sialylated conjugates pla...
    • Synthesis of substrates in N-glycan biosythesis, organism-specific biosystem (from REACTOME)
      Synthesis of substrates in N-glycan biosythesis, organism-specific biosystemReactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.All the...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC34450, MGC61459

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sialic acid binding IC
    Inferred by Curator
    more info
    PubMed 
    Process Evidence Code Pubs
    N-glycan processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    ganglioside biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    oligosaccharide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    sialylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase
    Names
    CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase
    SIAT8-D
    ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4
    ST8SiaIV
    alpha-2,8-sialyltransferase 8D
    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

    NCBI Reference Sequences (RefSeq)

    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_005668.6NP_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
      Q92187
      Related
      ENSP00000231461.4, ENST00000231461.10
      Conserved Domains (1) summary
      pfam00777
      Location:94353
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    2. NM_175052.2NP_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:94168
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      100806935..100903285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam00777
      Location:94255
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    2. XM_005272078.3XP_005272135.1  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform X1

      Conserved Domains (1) summary
      pfam00777
      Location:94262
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
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