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    ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 81849, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ST6GALNAC5provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:19342
    See related
    Ensembl:ENSG00000117069 MIM:610134; AllianceGenome:HGNC:19342
    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
    SIAT7E; SIAT7-E; ST6GalNAcV
    Summary
    The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Biased expression in lung (RPKM 3.9), brain (RPKM 3.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ST6GALNAC5 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (76867480..77067546)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (76705077..76905729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (77333165..77533231)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:77231962-77232537 Neighboring gene RNA, U6 small nuclear 161, pseudogene Neighboring gene long intergenic non-protein coding RNA 2567 Neighboring gene MPRA-validated peak293 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:77319872-77320409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1212 Neighboring gene NANOG hESC enhancer GRCh37_chr1:77365662-77366201 Neighboring gene NANOG hESC enhancer GRCh37_chr1:77426151-77426652 Neighboring gene MPRA-validated peak295 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:77463853-77465052 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:77489814-77490314 Neighboring gene MPRA-validated peak297 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1213 Neighboring gene microRNA 7156 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class K Neighboring gene ribosomal protein L17 pseudogene 6 Neighboring gene alanyl-tRNA synthetase domain containing 1 pseudogene

    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. Mutation in ST6GALNAC5 identified in family with coronary artery disease. InanlooRahatloo K, et al. Sci Rep, 2014 Jan 8. PMID 24399302, Free PMC Article
    2. A novel glycosyltransferase with a polyglutamine repeat; a new candidate for GD1alpha synthase (ST6GalNAc V)(1). Ikehara Y, et al. FEBS Lett, 1999 Dec 10. PMID 10601645
    3. Molecular cloning of brain-specific GD1alpha synthase (ST6GalNAc V) containing CAG/Glutamine repeats. Okajima T, et al. J Biol Chem, 1999 Oct 22. PMID 10521438
    4. Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides. Tsuchida A, et al. J Biol Chem, 2003 Jun 20. PMID 12668675
    5. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Xie T, et al. Neurobiol Aging, 2014 Jul. PMID 24529757

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sequence data from combined Iranian and US controls and CAD affected individuals provided evidence consistent with potential role of ST6GALNAC5 in coronary artery disease
      Title: Mutation in ST6GALNAC5 identified in family with coronary artery disease.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    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)

    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

    • MGC3184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables sialyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ganglioside biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in oligosaccharide metabolic process 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 TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
    Names
    GD1 alpha synthase
    GalNAc alpha-2,6-sialyltransferase V
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
    ST6 GalNAc alpha-2,6-sialyltransferase 5
    ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
    ST6GalNAc V
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V
    alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E
    sialyltransferase 7E
    NP_001307202.1
    NP_001307203.1
    NP_112227.1

    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_001320273.2 → NP_001307202.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK300902, AL035409, BU742124, DC358960
      UniProtKB/TrEMBL
      B4DV27

    2. NM_001320274.2 → NP_001307203.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL035409, BU742124, DA166913, DC358960

    3. NM_030965.3 → NP_112227.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 1

      See identical proteins and their annotated locations for NP_112227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK056241, AL035409, BU742124
      Consensus CDS
      CCDS673.1
      UniProtKB/Swiss-Prot
      B1AK82, Q9BVH7
      Related
      ENSP00000417583.1, ENST00000477717.6
      Conserved Domains (1) summary
      pfam00777
      Location:92 → 275
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      76867480..77067546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      76705077..76905729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVH7.1 GenPept UniProtKB/Swiss-Prot:Q9BVH7

    Gene LinkOut

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

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