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    GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 [ Homo sapiens (human) ]

    Gene ID: 374378, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GALNT18provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 18provided by HGNC
    Primary source
    HGNC:HGNC:30488
    See related
    Ensembl:ENSG00000110328 MIM:615136; AllianceGenome:HGNC:30488
    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
    GALNT15; GALNTL4; GALNACT18; GalNAc-T15; GalNAc-T18
    Summary
    Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 3.7), lung (RPKM 3.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GALNT18 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (11270877..11622005, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (11359781..11711204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (11292424..11643552, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:11268094-11268730 Neighboring gene uncharacterized LOC124902631 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:11278996-11279162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11286683-11287184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:11301387-11302362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11312119-11312618 Neighboring gene uncharacterized LOC124902633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11400009-11400508 Neighboring gene casein kinase 2 alpha 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:11425327-11426526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11430413-11430914 Neighboring gene uncharacterized LOC107983976 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18862 Neighboring gene NANOG hESC enhancer GRCh37_chr11:11530882-11531383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:11559636-11560464 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4454 Neighboring gene uncharacterized LOC124902632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11591851-11592350 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11641433-11642402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:11643492-11643992 Neighboring gene uncharacterized LOC105376553 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19059 Neighboring gene microRNA 4299

    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
    • 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 ppGalNAc-T18, a member of the vertebrate-specific Y subfamily of UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferases. Li X, et al. Glycobiology, 2012 May. PMID 22171061
    2. Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1. Jia W, et al. Glycobiology, 2021 Sep 9. PMID 33909026
    3. A genome-wide association search for type 2 diabetes genes in African Americans. Palmer ND, et al. PLoS One, 2012. PMID 22238593, Free PMC Article
    4. UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferases: completion of the family tree. Raman J, et al. Glycobiology, 2012 Jun. PMID 22186971, Free PMC Article
    5. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. Wang J, et al. Pharmacogenomics J, 2013 Jun. PMID 22491018

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.
      Title: Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC71806

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked glycosylation IDA
    Inferred from Direct Assay
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 18
    Names
    GalNAc-transferase 18
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4
    galNAc-T-like protein 4
    polypeptide GalNAc transferase 18
    polypeptide GalNAc transferase-like protein 4
    polypeptide N-acetylgalactosaminyltransferase-like protein 4
    pp-GaNTase-like protein 4
    protein-UDP acetylgalactosaminyltransferase-like protein 4
    putative polypeptide N-acetylgalactosaminyltransferase-like protein 4
    NP_001350393.1
    NP_940918.2
    XP_006718288.1
    XP_011518371.1
    XP_011518372.1
    XP_011518373.1
    XP_054224677.1
    XP_054224678.1
    XP_054224679.1
    XP_054224680.1

    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_001363464.2 → NP_001350393.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC023946, AC084243, AC104031, AC131935
      UniProtKB/TrEMBL
      B3KNV8
      Conserved Domains (2) summary
      cd00161
      Location:409 → 536
      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 ...
      cl11394
      Location:157 → 396
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. NM_198516.3 → NP_940918.2  polypeptide N-acetylgalactosaminyltransferase 18 isoform 1

      See identical proteins and their annotated locations for NP_940918.2

      Status: VALIDATED

      Source sequence(s)
      AB078147, AC131935, BC037341
      Consensus CDS
      CCDS7807.1
      UniProtKB/Swiss-Prot
      O95903, Q6P9A2, Q8NDY9
      UniProtKB/TrEMBL
      B3KNV8, Q58A54
      Related
      ENSP00000227756.4, ENST00000227756.5
      Conserved Domains (2) summary
      cd02510
      Location:157 → 458
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:471 → 598
      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 ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      11270877..11622005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520071.4 → XP_011518373.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X3

      Conserved Domains (1) summary
      cl11394
      Location:157 → 365
      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_011520070.4 → XP_011518372.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X2

      Conserved Domains (1) summary
      cl11394
      Location:157 → 364
      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_006718225.4 → XP_006718288.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X4

      Conserved Domains (1) summary
      cl11394
      Location:157 → 364
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. XM_011520069.4 → XP_011518371.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X1

      Conserved Domains (1) summary
      cl11394
      Location:157 → 365
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      11359781..11711204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368704.1 → XP_054224679.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X3

    2. XM_054368703.1 → XP_054224678.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X2

    3. XM_054368705.1 → XP_054224680.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X4

    4. XM_054368702.1 → XP_054224677.1  polypeptide N-acetylgalactosaminyltransferase 18 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9A2.2 GenPept UniProtKB/Swiss-Prot:Q6P9A2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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