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    GALNT4 polypeptide N-acetylgalactosaminyltransferase 4 [ Homo sapiens (human) ]

    Gene ID: 8693, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GALNT4provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 4provided by HGNC
    Primary source
    HGNC:HGNC:4126
    See related
    Ensembl:ENSG00000257594 MIM:603565; AllianceGenome:HGNC:4126
    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
    GALNACT4; GALNAC-T4
    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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
    Orthologs
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    Genomic context

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    Location:
    12q21.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (89519412..89524796, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (89501268..89506652, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (89913189..89918573, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902981 Neighboring gene POC1 centriolar protein B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4692 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:89874798-89874988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:89897120-89897793 Neighboring gene POC1B-GALNT4 readthrough Neighboring gene centromere protein C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4694 Neighboring gene POC1B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4695 Neighboring gene ATPase plasma membrane Ca2+ transporting 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4697 Neighboring gene ATP2B1 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Reduced expression of ppGalNAc-T4 promotes proliferation of human breast cancer cells. Wu Q, et al. Cell Biol Int, 2021 Feb. PMID 33079401
    2. The polypeptide N-acetylgalactosaminyltransferase 4 exhibits stage-dependent expression in colorectal cancer and affects tumorigenesis, invasion and differentiation. Yan X, et al. FEBS J, 2018 Aug. PMID 29931806
    3. Estrogen regulates vesicle trafficking gene expression in EFF-3, EFM-19 and MCF-7 breast cancer cells. Wright PK, et al. Int J Clin Exp Pathol, 2009. PMID 19294005, Free PMC Article
    4. The lectin domains of polypeptide GalNAc-transferases exhibit carbohydrate-binding specificity for GalNAc: lectin binding to GalNAc-glycopeptide substrates is required for high density GalNAc-O-glycosylation. Wandall HH, et al. Glycobiology, 2007 Apr. PMID 17215257
    5. O-GalNAc incorporation into a cluster acceptor site of three consecutive threonines. Distinct specificity of GalNAc-transferase isoforms. Takeuchi H, et al. Eur J Biochem, 2002 Dec. PMID 12473113

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced expression of ppGalNAc-T4 promotes proliferation of human breast cancer cells.
      Title: Reduced expression of ppGalNAc-T4 promotes proliferation of human breast cancer cells.
    2. MiR-506-3p acts as a novel tumor suppressor in prostate cancer through targeting GALNT4.
      Title: MiR-506-3p acts as a novel tumor suppressor in prostate cancer through targeting GALNT4.
    3. GALNT4 stage-dependent expression in colorectal cancer progression.GALNT4 expression may contribute to the tumorigenesis at the early stage and promote cell migration and invasion at the advanced stage of the colorectal cancer.
      Title: The polypeptide N-acetylgalactosaminyltransferase 4 exhibits stage-dependent expression in colorectal cancer and affects tumorigenesis, invasion and differentiation.
    4. miR4262 may be involved in the development of colon cancer via targeting of GALNT4.
      Title: miR‑4262 inhibits colon cancer cell proliferation via targeting of GALNT4.
    5. Insights into the structure of PGAP4 (GALNT4) and the initial step of GPI-GalNAc biosynthesis have been elucidated.
      Title: Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain.
    6. GALNT4 Expression Is Directly Regulated by miR-9.
      Title: Loss of N-Acetylgalactosaminyltransferase-4 Orchestrates Oncogenic MicroRNA-9 in Hepatocellular Carcinoma.
    7. Intronic SNP in POC1B/GALNT4 locus (rs11105306) was associated with NT-proBNP levels in patients with acute coronary syndrome (ACS). The POC1B/GALNT4 SNP was not associated with higher risk of cardiovascular death.
      Title: Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.
    8. GALNT14 may contribute to ovarian carcinogenesis through aberrant glycosylation of MUC13.
      Title: The mucin-type glycosylating enzyme polypeptide N-acetylgalactosaminyltransferase 14 promotes the migration of ovarian cancer by modifying mucin 13.
    9. GALNT4 identified as a risk gene for cardiovascular disease, whose effects may be on either platelet or endothelial function through modifications of PSGL1 or other important glycosylated proteins.
      Title: Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough POC1B-GALNT4

    Readthrough gene: POC1B-GALNT4, Included gene: POC1B

    Homology

    Clone Names

    • FLJ93314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    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
    		  
    involved_in protein O-linked glycosylation via serine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation via threonine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 4
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)
    polypeptide GalNAc transferase 4
    pp-GaNTase 4
    protein-UDP acetylgalactosaminyltransferase 4
    NP_003765.2

    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.

    Genomic

    1. NG_050753.1 RefSeqGene

      Range
      5011..10395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003774.5 → NP_003765.2  polypeptide N-acetylgalactosaminyltransferase 4

      See identical proteins and their annotated locations for NP_003765.2

      Status: REVIEWED

      Source sequence(s)
      BC036390, CR739813, DA109687
      Consensus CDS
      CCDS53817.1
      UniProtKB/Swiss-Prot
      B2R775, B4DMX6, O00208, Q8N4A0
      Related
      ENSP00000436604.2, ENST00000529983.3
      Conserved Domains (2) summary
      cd02510
      Location:138 → 432
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:446 → 574
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      89519412..89524796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      89501268..89506652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4A0.2 GenPept UniProtKB/Swiss-Prot:Q8N4A0

    Gene LinkOut

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

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