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    ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 [ Homo sapiens (human) ]

    Gene ID: 338596, updated on 17-Jun-2019

    Summary

    Official Symbol
    ST8SIA6provided by HGNC
    Official Full Name
    ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6provided by HGNC
    Primary source
    HGNC:HGNC:23317
    See related
    Ensembl:ENSG00000148488 MIM:610139
    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
    SIA8F; SIAT8F; SIAT8-F; ST8SiaVI; ST8SIA-VI
    Summary
    This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in lung (RPKM 3.3), heart (RPKM 1.0) and 14 other tissues See more
    Orthologs

    Genomic context

    See ST8SIA6 in Genome Data Viewer
    Location:
    10p12.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (17315414..17455966, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (17361282..17496408, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tRNA aspartic acid methyltransferase 1 Neighboring gene VIM antisense RNA 1 Neighboring gene vimentin Neighboring gene ST8SIA6 antisense RNA 1 Neighboring gene uncharacterized LOC105376436 Neighboring gene uncharacterized LOC105376437 Neighboring gene PRP38 domain containing A pseudogene 2

    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
    Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sialyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    ganglioside biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    glycolipid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    glycoprotein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    oligosaccharide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    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
    alpha-2,8-sialyltransferase 8F
    Names
    ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 6
    sialyltransferase 8F (alpha-2, 8-sialyltransferase)
    sialyltransferase St8Sia VI
    NP_001004470.1
    NP_001332890.1
    XP_016871663.1
    XP_016871664.1
    XP_024303742.1
    XP_024303743.1
    XP_024303744.1
    XP_024303745.1
    XP_024303746.1

    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.

    Genomic

    1. NG_051597.1 RefSeqGene

      Range
      6580..145553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001004470.3NP_001004470.1  alpha-2,8-sialyltransferase 8F isoform 1 precursor

      See identical proteins and their annotated locations for NP_001004470.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL158164, AL160289, BC137103
      Consensus CDS
      CCDS31158.1
      UniProtKB/Swiss-Prot
      P61647
      Related
      ENSP00000366827.4, ENST00000377602.5
      Conserved Domains (1) summary
      pfam00777
      Location:138391
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    2. NM_001345961.2NP_001332890.1  alpha-2,8-sialyltransferase 8F isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL158164, AL160289
      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_144322.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL158164, BC144472

    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.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      17315414..17455966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016174.1XP_016871663.1  alpha-2,8-sialyltransferase 8F isoform X1

    2. XM_024447974.1XP_024303742.1  alpha-2,8-sialyltransferase 8F isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    3. XM_024447975.1XP_024303743.1  alpha-2,8-sialyltransferase 8F isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    4. XM_024447977.1XP_024303745.1  alpha-2,8-sialyltransferase 8F isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    5. XM_024447976.1XP_024303744.1  alpha-2,8-sialyltransferase 8F isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    6. XM_024447978.1XP_024303746.1  alpha-2,8-sialyltransferase 8F isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:13240
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    7. XM_017016175.1XP_016871664.1  alpha-2,8-sialyltransferase 8F isoform X2

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