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    GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 [ Homo sapiens (human) ]

    Gene ID: 117248, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GALNT15provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 15provided by HGNC
    Primary source
    HGNC:HGNC:21531
    See related
    Ensembl:ENSG00000131386 MIM:615131; AllianceGenome:HGNC:21531
    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
    PIH5; GALNT7; GALNT13; GALNTL2; GALNACT15; pp-GalNAc-T15
    Summary
    Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Located in transport vesicle. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in fat (RPKM 7.2), brain (RPKM 5.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GALNT15 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (16174680..16248224)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (16177747..16249451)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16216187..16273499)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906217 Neighboring gene uncharacterized LOC124906216 Neighboring gene uncharacterized LOC124909349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19539 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:16285879-16286378 Neighboring gene Sharpr-MPRA regulatory region 8904 Neighboring gene uncharacterized LOC124906218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:16297189-16297690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19540 Neighboring gene diphthamide biosynthesis 3 Neighboring gene oxidoreductase NAD binding domain containing 1 Neighboring gene THAP domain containing 5 pseudogene 2

    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 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. Characterization of a novel human UDP-GalNAc transferase, pp-GalNAc-T15. Cheng L, et al. FEBS Lett, 2004 May 21. PMID 15147861
    2. Identification and initial characterization of 5000 expressed sequenced tags (ESTs) each from adult human normal and osteoarthritic cartilage cDNA libraries. Kumar S, et al. Osteoarthritis Cartilage, 2001 Oct. PMID 11597177
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • DKFZp686H1113

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 15
    Names
    UDP-GalNAc transferase T15
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2
    galNAc-T-like protein 2
    polypeptide GalNAc transferase 15
    polypeptide GalNAc transferase-like protein 2
    polypeptide N-acetylgalactosaminyltransferase 13
    polypeptide N-acetylgalactosaminyltransferase-like protein 2
    pp-GaNTase-like protein 2
    pregnancy-induced hypertension syndrome-related protein 5
    protein-UDP acetylgalactosaminyltransferase-like protein 2
    NP_001305980.1
    NP_001305981.1
    NP_473451.3
    XP_005264909.1
    XP_054201139.1

    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_001319051.2 → NP_001305980.1  polypeptide N-acetylgalactosaminyltransferase 15 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3'-terminal exon compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC087858, AC090953, AL832736, DA279091
      Consensus CDS
      CCDS82742.1
      UniProtKB/TrEMBL
      C9JGI4
      Related
      ENSP00000395873.1, ENST00000437509.3
      Conserved Domains (4) summary
      cd02510
      Location:194 → 493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:507 → 614
      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:505 → 592
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:191 → 447
      Glyco_tranf_2_3; Glycosyltransferase like family 2

    2. NM_001319052.2 → NP_001305981.1  polypeptide N-acetylgalactosaminyltransferase 15 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons in the 5' coding region, and uses an alternate 5'-terminal exon and a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC090953, BC030625, BG926921, BQ005863, BQ014148, BX088662, DA358505
      UniProtKB/TrEMBL
      Q68VJ0
      Conserved Domains (2) summary
      pfam00652
      Location:35 → 158
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:1 → 23
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    3. NM_054110.5 → NP_473451.3  polypeptide N-acetylgalactosaminyltransferase 15 isoform 1

      See identical proteins and their annotated locations for NP_473451.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC090953, AK312425, AY035399
      Consensus CDS
      CCDS33711.1
      UniProtKB/Swiss-Prot
      A6NMN1, B2R638, F1LIP6, Q86T60, Q8N3T1, Q96C46, Q96DJ5
      Related
      ENSP00000344260.5, ENST00000339732.10
      Conserved Domains (4) summary
      cd02510
      Location:194 → 493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:507 → 630
      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:505 → 628
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:191 → 447
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      16174680..16248224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264852.6 → XP_005264909.1  polypeptide N-acetylgalactosaminyltransferase 15 isoform X1

      Conserved Domains (4) summary
      cd02510
      Location:194 → 493
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:507 → 591
      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:505 → 591
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:191 → 447
      Glyco_tranf_2_3; Glycosyltransferase like family 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      16177747..16249451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345164.1 → XP_054201139.1  polypeptide N-acetylgalactosaminyltransferase 15 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3T1.2 GenPept UniProtKB/Swiss-Prot:Q8N3T1

    Gene LinkOut

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