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

Gene ID: 374378, updated on 3-Apr-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 integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 3.7), lung (RPKM 3.5) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (11270877..11622005, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (11359781..11711204, complement)
105.20220307 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)

Genotypes

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
  
is_active_in cellular_component ND
No biological Data available
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_2023_10

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

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