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

    Gene ID: 29906, updated on 10-Dec-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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    See ST8SIA5 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46667821..46757053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46858373..46947691, complement)
    RS_2024_09 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

    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)

    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_2024_08

    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

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

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