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    ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 256435, updated on 17-Jun-2019

    Summary

    Official Symbol
    ST6GALNAC3provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:19343
    See related
    Ensembl:ENSG00000184005 MIM:610133
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STY; SIAT7C; PRO7177; ST6GALNACIII
    Summary
    ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in thyroid (RPKM 2.3), kidney (RPKM 1.6) and 19 other tissues See more
    Orthologs

    Genomic context

    See ST6GALNAC3 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (76074684..76637316)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76540389..77100311)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378806 Neighboring gene uncharacterized LOC101927342 Neighboring gene peroxiredoxin 5 pseudogene Neighboring gene uncharacterized LOC105378807 Neighboring gene triosephosphate isomerase 1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 161, pseudogene

    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 in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    NHGRI GWA Catalog
    Genome-wide association study of circulating vitamin D-binding protein.
    NHGRI GWA Catalog
    Genome-wide association study of liver enzymes in korean children.
    NHGRI GWA Catalog
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13669, FLJ27239

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    ganglioside biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glycoprotein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosphingolipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosylceramide metabolic process 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
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
    Names
    GalNAc alpha-2,6-sialyltransferase III
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
    ST6 GalNAc alpha-2,6-sialyltransferase 3
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C
    sialyltransferase 7C
    NP_001153483.1
    NP_001336034.1
    NP_001336035.1
    NP_001336036.1
    NP_001336037.1
    NP_001336038.1
    NP_001336039.1
    NP_001336040.1
    NP_694541.2
    XP_016856426.1
    XP_016856427.1
    XP_016856428.1
    XP_016856430.1
    XP_016856431.1

    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_001160011.3NP_001153483.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 2

      See identical proteins and their annotated locations for NP_001153483.1

      Status: VALIDATED

      Source sequence(s)
      AY358540, BC039520
      UniProtKB/Swiss-Prot
      Q8NDV1
      Conserved Domains (1) summary
      pfam00777
      Location:77137
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    2. NM_001349105.2NP_001336034.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC104458, AK297363
      Conserved Domains (1) summary
      pfam00777
      Location:5194
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    3. NM_001349106.2NP_001336035.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:3207
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    4. NM_001349107.2NP_001336036.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:70259
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    5. NM_001349108.2NP_001336037.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:5230
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    6. NM_001349109.2NP_001336038.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:70142
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    7. NM_001349110.2NP_001336039.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC098655, AC103592
      Conserved Domains (1) summary
      pfam00777
      Location:70142
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    8. NM_001349111.2NP_001336040.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC103592, AC104458
      Conserved Domains (1) summary
      pfam00777
      Location:82307
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    9. NM_152996.4NP_694541.2  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 1

      See identical proteins and their annotated locations for NP_694541.2

      Status: VALIDATED

      Source sequence(s)
      AC104458, BC059363, DA800675
      Consensus CDS
      CCDS672.1
      UniProtKB/Swiss-Prot
      Q8NDV1
      Related
      ENSP00000329214.3, ENST00000328299.4
      Conserved Domains (1) summary
      pfam00777
      Location:77295
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_146056.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092813, AC098655, AC103592, AC104458

    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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      76074684..76637316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000942.2XP_016856431.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4

      Conserved Domains (1) summary
      pfam00777
      Location:3207
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
    2. XM_017000938.1XP_016856427.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X2

    3. XM_017000939.1XP_016856428.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X3

    4. XM_017000937.2XP_016856426.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X1

    5. XM_017000941.2XP_016856430.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform X4

      Conserved Domains (1) summary
      pfam00777
      Location:3207
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. XR_001737094.2 RNA Sequence

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