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    GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 [ Homo sapiens (human) ]

    Gene ID: 50614, updated on 17-Sep-2024

    Summary

    Official Symbol
    GALNT9provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 9provided by HGNC
    Primary source
    HGNC:HGNC:4131
    See related
    Ensembl:ENSG00000182870 MIM:606251; AllianceGenome:HGNC:4131
    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
    GALNACT9; GALNAC-T9
    Summary
    This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.4) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See GALNT9 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132196372..132329589, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132247641..132380739, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132680917..132906175, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132638821-132639321 Neighboring gene nucleolar complex associated 4 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132662977-132663497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5115 Neighboring gene long intergenic non-protein coding RNA 2361 Neighboring gene uncharacterized LOC105370091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132703817-132704677 Neighboring gene MS43a minisatellite repeat instability region Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:132831859-132832379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132832380-132832899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132849568-132850462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132850463-132851355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132852165-132852941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132854851-132855501 Neighboring gene GALNT9 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132860363-132861016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132861671-132862324 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:132863043-132864242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132899827-132900476 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:132903614-132904813 Neighboring gene uncharacterized LOC101928416 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132920815-132922014 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:132949478-132949627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132982751-132983387 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:132991529-132991667 Neighboring gene uncharacterized LOC105370092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133005261-133005795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5116

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables polypeptide N-acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables polypeptide N-acetylgalactosaminyltransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables polypeptide N-acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
     
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked glycosylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 9
    Names
    GalNAc transferase 9
    UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)
    polypeptide GalNAc transferase 9
    pp-GaNTase 9
    protein-UDP acetylgalactosaminyltransferase 9
    NP_001116108.1
    NP_068580.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001122636.2NP_001116108.1  polypeptide N-acetylgalactosaminyltransferase 9 isoform A

      See identical proteins and their annotated locations for NP_001116108.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AB040672, AC148477, AF458594, BM672467, BM925654, CB154648, DA206384, DR001000
      Consensus CDS
      CCDS81755.1
      UniProtKB/Swiss-Prot
      Q52LR8, Q6NT54, Q8NFR1, Q9HCQ5
      UniProtKB/TrEMBL
      J3KNN1
      Related
      ENSP00000329846.8, ENST00000328957.13
      Conserved Domains (3) summary
      cd02510
      Location:154453
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:466594
      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:464592
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    2. NM_021808.3NP_068580.2  polypeptide N-acetylgalactosaminyltransferase 9 isoform B

      See identical proteins and their annotated locations for NP_068580.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant A. The resulting isoform (B) has a shorter N-terminus compared to isoform A, and lacks the glycosyltransferase domain.
      Source sequence(s)
      AF458594, BC093817, BI760629, BM672467, CB154648, DA370980
      Consensus CDS
      CCDS41866.1
      UniProtKB/Swiss-Prot
      Q9HCQ5
      Related
      ENSP00000380488.2, ENST00000397325.6
      Conserved Domains (2) summary
      pfam00652
      Location:98226
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:187
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132196372..132329589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160007.1 Reference GRCh38.p14 PATCHES

      Range
      103401..235949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132247641..132380739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)