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    GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 [ Homo sapiens (human) ]

    Gene ID: 79623, updated on 28-Oct-2024

    Summary

    Official Symbol
    GALNT14provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 14provided by HGNC
    Primary source
    HGNC:HGNC:22946
    See related
    Ensembl:ENSG00000158089 MIM:608225; AllianceGenome:HGNC:22946
    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
    GALNT15; GalNac-T10; GalNac-T14
    Summary
    This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
    Expression
    Biased expression in kidney (RPKM 5.0), esophagus (RPKM 0.7) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GALNT14 in Genome Data Viewer
    Location:
    2p23.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (30886782..31138440, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (30930318..31182606, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31133333..31361306, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905982 Neighboring gene uncharacterized LOC105374435 Neighboring gene uncharacterized LOC124907750 Neighboring gene NANOG hESC enhancer GRCh37_chr2:31094769-31095270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:31108994-31109884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:31214942-31215442 Neighboring gene NANOG hESC enhancer GRCh37_chr2:31330423-31330924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:31352777-31353278 Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:31437004-31437504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:31437505-31438005 Neighboring gene RNA, 5S ribosomal pseudogene 90

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12691, FLJ13977

    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 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
     
    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 14
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)
    polypeptide GalNAc transferase 14
    polypeptide N-acetylgalactosaminyltransferase 15
    pp-GaNTase 14
    protein-UDP acetylgalactosaminyltransferase 14
    NP_001240755.1
    NP_001240756.1
    NP_001316024.1
    NP_001316025.1
    NP_001316026.1
    NP_078848.2
    XP_016860396.2
    XP_047301783.1
    XP_054199882.1
    XP_054199883.1

    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.

    Genomic

    1. NG_051040.1 RefSeqGene

      Range
      5287..233260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253826.2NP_001240755.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 2

      See identical proteins and their annotated locations for NP_001240755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains two alternate in-frame exons and lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.
      Source sequence(s)
      AC009301, AC015980, AK022753
      Consensus CDS
      CCDS58706.1
      UniProtKB/TrEMBL
      B7Z5C5
      Related
      ENSP00000314500.5, ENST00000324589.9
      Conserved Domains (4) summary
      cd02510
      Location:119413
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:427554
      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:427552
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:116342
      Glyco_tranf_2_3; Glycosyltransferase like family 2
    2. NM_001253827.2NP_001240756.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 3

      See identical proteins and their annotated locations for NP_001240756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform.
      Source sequence(s)
      AC009301, AC009305, AK122747, DA752701
      Consensus CDS
      CCDS58705.1
      UniProtKB/TrEMBL
      B7Z5C5
      Related
      ENSP00000385435.1, ENST00000406653.5
      Conserved Domains (4) summary
      cd02510
      Location:94388
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:402529
      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:402527
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:91317
      Glyco_tranf_2_3; Glycosyltransferase like family 2
    3. NM_001329095.2NP_001316024.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009301, AK298735, BC006269, BC010659
      UniProtKB/TrEMBL
      B7Z5C5
    4. NM_001329096.2NP_001316025.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) includes two alternate 5' exons and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1. Variants 3 and 5 encode the same isoform.
      Source sequence(s)
      AC009301, AC009305, AC015980
      Consensus CDS
      CCDS58705.1
      UniProtKB/TrEMBL
      B7Z5C5
      Conserved Domains (4) summary
      cd02510
      Location:94388
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:402529
      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:402527
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:91317
      Glyco_tranf_2_3; Glycosyltransferase like family 2
    5. NM_001329097.2NP_001316026.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009301, AC009305, AC015980
      UniProtKB/TrEMBL
      J3KQQ5
    6. NM_024572.4NP_078848.2  polypeptide N-acetylgalactosaminyltransferase 14 isoform 1

      See identical proteins and their annotated locations for NP_078848.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AY358758, BC010659
      Consensus CDS
      CCDS1773.2
      UniProtKB/Swiss-Prot
      B3KV89, Q4ZG75, Q53SU1, Q53TJ0, Q8IVI4, Q96FL9, Q9BRH1, Q9H827, Q9H9J8
      UniProtKB/TrEMBL
      B7Z5C5
      Related
      ENSP00000288988.6, ENST00000349752.10
      Conserved Domains (4) summary
      cd02510
      Location:114408
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:422549
      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:422547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:111337
      Glyco_tranf_2_3; Glycosyltransferase like family 2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      30886782..31138440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445827.1XP_047301783.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform X1

    2. XM_017004907.2XP_016860396.2  polypeptide N-acetylgalactosaminyltransferase 14 isoform X2

    RNA

    1. XR_007081588.1 RNA Sequence

    2. XR_001738943.2 RNA Sequence

    3. XR_001738941.2 RNA Sequence

    4. XR_007081587.1 RNA Sequence

    5. XR_001738942.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      30930318..31182606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343907.1XP_054199882.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform X1

    2. XM_054343908.1XP_054199883.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform X2

    RNA

    1. XR_008486519.1 RNA Sequence

    2. XR_008486518.1 RNA Sequence

    3. XR_008486516.1 RNA Sequence

    4. XR_008486517.1 RNA Sequence

    5. XR_008486515.1 RNA Sequence