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    GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 [ Homo sapiens (human) ]

    Gene ID: 79695, updated on 20-Feb-2017
    Official Symbol
    GALNT12provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 12provided by HGNC
    Primary source
    HGNC:HGNC:19877
    See related
    Ensembl:ENSG00000119514 MIM:610290; Vega:OTTHUMG00000020348
    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
    CRCS1; GalNAc-T12
    Summary
    This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
    Orthologs
    Location:
    9q22.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (98807699..98850081)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101569981..101612363)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene septin 7 pseudogene 7 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 6 Neighboring gene uncharacterized LOC102724684 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    polypeptide N-acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    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
     
    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 12
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
    colorectal cancer, susceptibility to 1
    polypeptide GalNAc transferase 12
    pp-GaNTase 12
    protein-UDP acetylgalactosaminyltransferase 12
    NP_078918.3

    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_028218.1 RefSeqGene

      Range
      5001..47383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024642.4NP_078918.3  polypeptide N-acetylgalactosaminyltransferase 12

      See identical proteins and their annotated locations for NP_078918.3

      Status: REVIEWED

      Source sequence(s)
      AB078146, AJ132365, AK024865, CB243715
      Consensus CDS
      CCDS6737.1
      UniProtKB/Swiss-Prot
      Q8IXK2
      Related
      ENSP00000364150, OTTHUMP00000021781, ENST00000375011, OTTHUMT00000053382
      Conserved Domains (4) summary
      cd02510
      Location:139433
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG0463
      Location:134429
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cd00161
      Location:447576
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:445574
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      98807699..98850081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519020.1XP_011517322.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X3

      Conserved Domains (3) summary
      cd00161
      Location:211340
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:209338
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:8197
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    2. XM_006717287.1XP_006717350.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X4

      See identical proteins and their annotated locations for XP_006717350.1

      UniProtKB/Swiss-Prot
      Q8IXK2
      Conserved Domains (3) summary
      cd00161
      Location:150279
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:148277
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:2136
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    3. XM_011519018.2XP_011517320.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X1

      Conserved Domains (4) summary
      cd02510
      Location:65359
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG0463
      Location:60355
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cd00161
      Location:373502
      RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
      pfam00652
      Location:371500
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    4. XM_017015133.1XP_016870622.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      101716415..101758808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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