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

    Gene ID: 7903, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See ST8SIA4 in Genome Data Viewer
    Location:
    5q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (100806933..100903282, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (101315265..101411539, complement)
    RS_2024_09 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. 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
    2. 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
    3. 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
    4. 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
    5. The polysialyltransferase ST8Sia II/STX: posttranslational processing and role of autopolysialylation in the polysialylation of neural cell adhesion molecule. Close BE, et al. Glycobiology, 2001 Nov. PMID 11744634

    See all (47) 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)

    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_2024_08

    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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