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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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See GALNT4 in Genome Data Viewer
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

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