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Aliases for GALNT4 Gene

Aliases for GALNT4 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 4 2 3 5
  • Polypeptide GalNAc Transferase 4 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 4 (GalNAc-T4) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 4 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 4 3 4
  • Pp-GaNTase 4 3 4
  • EC 2.4.1.41 4 61
  • GALNAC-T4 3 4
  • GALNACT4 3

External Ids for GALNT4 Gene

Previous GeneCards Identifiers for GALNT4 Gene

  • GC12M089334
  • GC12M090360
  • GC12M089849
  • GC12M088419
  • GC12M088415
  • GC12M089913

Summaries for GALNT4 Gene

Entrez Gene Summary for GALNT4 Gene

  • 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]

GeneCards Summary for GALNT4 Gene

GALNT4 (Polypeptide N-Acetylgalactosaminyltransferase 4) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is POC1B-GALNT4.

UniProtKB/Swiss-Prot for GALNT4 Gene

  • Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates Thr-57 of SELPLG.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT4 Gene

Genomics for GALNT4 Gene

Regulatory Elements for GALNT4 Gene

Enhancers for GALNT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G089450 1.4 FANTOM5 Ensembl ENCODE 31.2 +72.1 72076 5.3 PKNOX1 FEZF1 RAD21 ETS1 GATA2 EGR2 OVOL3 USF2 CEBPB ZNF843 GALNT4 ENSG00000258302 DUSP6 POC1B CENPCP1 ENSG00000271259
GH12G089467 1.2 Ensembl ENCODE 32.4 +56.1 56132 2.7 PKNOX1 FEZF1 BMI1 ZBTB40 RAD21 EGR1 CBX5 ZSCAN5C ZNF143 ETV6 GALNT4 ENSG00000258302 POC1B DUSP6 CENPCP1 ENSG00000271259
GH12G089521 1.4 ENCODE dbSUPER 20.4 +0.7 676 5.8 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 SP3 TBX21 MEF2D ZNF610 ENSG00000258302 GALNT4 DUSP6 CENPCP1
GH12G089345 1.8 FANTOM5 ENCODE dbSUPER 14.4 +173.3 173308 13.9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 MEF2D DUSP6 GALNT4 POC1B RNU7-120P ATP2B1 ENSG00000271259 GC12P089354 ENSG00000274021
GH12G089496 0.7 ENCODE dbSUPER 32.1 +27.1 27115 3.3 BHLHE40 HLF GALNT4 ENSG00000258302 POC1B CENPCP1 ENSG00000271259
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALNT4 on UCSC Golden Path with GeneCards custom track

Promoters for GALNT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000055080 -594 2801 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 SP3 TBX21 MEF2D ZNF610

Genomic Location for GALNT4 Gene

Chromosome:
12
Start:
89,519,408 bp from pter
End:
89,524,806 bp from pter
Size:
5,399 bases
Orientation:
Minus strand

Genomic View for GALNT4 Gene

Genes around GALNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT4 Gene

Proteins for GALNT4 Gene

  • Protein details for GALNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4A0-GALT4_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 4
    Protein Accession:
    Q8N4A0
    Secondary Accessions:
    • B2R775
    • B4DMX6
    • O00208

    Protein attributes for GALNT4 Gene

    Size:
    578 amino acids
    Molecular mass:
    66666 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GALNT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT4 Gene

Selected DME Specific Peptides for GALNT4 Gene

Q8N4A0:
  • SFRVWQCGG
  • RAAEVWMD
  • MAGGLFA
  • VVCPVID
  • AEVWMDEYK
  • LLKEIILVDD
  • PTMAGGL
  • WGGENLE
  • GWLEPLL

Post-translational modifications for GALNT4 Gene

  • Glycosylation at isoforms=2471
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GALNT4 Gene

Gene Families for GALNT4 Gene

Suggested Antigen Peptide Sequences for GALNT4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N4A0

UniProtKB/Swiss-Prot:

GALT4_HUMAN :
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Domain:
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • The ricin B-type lectin domain directs the glycopeptide specificity. It is required in the glycopeptide specificity of enzyme activity but not for activity with naked peptide substrates, suggesting that it triggers the catalytic domain to act on GalNAc-glycopeptide substrates.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT4: view

Function for GALNT4 Gene

Molecular function for GALNT4 Gene

GENATLAS Biochemistry:
galactosamine
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
UniProtKB/Swiss-Prot Function:
Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates Thr-57 of SELPLG.

Enzyme Numbers (IUBMB) for GALNT4 Gene

Gene Ontology (GO) - Molecular Function for GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT4: view
genes like me logo Genes that share phenotypes with GALNT4: view

Animal Models for GALNT4 Gene

MGI Knock Outs for GALNT4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT4 Gene

Localization for GALNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT4 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALNT4 gene
Compartment Confidence
extracellular 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 colocalizes_with Golgi apparatus IDA,TAS 12506059
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 12506059
genes like me logo Genes that share ontologies with GALNT4: view

Pathways & Interactions for GALNT4 Gene

genes like me logo Genes that share pathways with GALNT4: view

Pathways by source for GALNT4 Gene

UniProtKB/Swiss-Prot Q8N4A0-GALT4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 9592121
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT4: view

No data available for SIGNOR curated interactions for GALNT4 Gene

Drugs & Compounds for GALNT4 Gene

(3) Drugs for GALNT4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0

(3) Additional Compounds for GALNT4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT4: view

Transcripts for GALNT4 Gene

mRNA/cDNA for GALNT4 Gene

(1) REFSEQ mRNAs :
(161) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT4 Gene

No ASD Table

Relevant External Links for GALNT4 Gene

GeneLoc Exon Structure for
GALNT4
ECgene alternative splicing isoforms for
GALNT4

Expression for GALNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GALNT4 Gene

This gene is overexpressed in Nasal epithelium (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALNT4 Gene



NURSA nuclear receptor signaling pathways regulating expression of GALNT4 Gene:

GALNT4

mRNA Expression by UniProt/SwissProt for GALNT4 Gene:

Q8N4A0-GALT4_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in mucous cells.

Evidence on tissue expression from TISSUES for GALNT4 Gene

  • Kidney(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with GALNT4: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT4 Gene

Orthologs for GALNT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT4 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia GALNT4 34
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Galnt4 34
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Galnt4 34 16 35
  • 85.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt4 34
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii poc1bl 34 35
  • 67.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta GalNAc-T1 36
  • 39 (a)
CG2103 36
  • 37 (a)
CG7297 36
  • 31 (a)
CG7579 36
  • 31 (a)
CG7304 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39E4B.12a 36
  • 47 (a)
Y39E4B.12b 36
  • 46 (a)
Y39E4B.12c 36
  • 46 (a)
Y47D3A.23 36
  • 37 (a)
Y45F10D.3 36
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 35
  • 61 (a)
OneToMany
Species where no ortholog for GALNT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALNT4 Gene

ENSEMBL:
Gene Tree for GALNT4 (if available)
TreeFam:
Gene Tree for GALNT4 (if available)

Paralogs for GALNT4 Gene

Variants for GALNT4 Gene

Sequence variations from dbSNP and Humsavar for GALNT4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs863223348 Likely pathogenic 89,523,356(-) AGAAA(C/T)CCTCC intron-variant, reference, synonymous-codon
rs1000403457 -- 89,522,797(+) TGACG(A/C)AAGTG intron-variant, utr-variant-3-prime
rs1000437746 -- 89,524,241(+) TAAAT(A/G)TTGAT intron-variant, reference, synonymous-codon
rs1000683978 -- 89,524,504(+) AAACG(C/T)CAGCA intron-variant, reference, missense
rs1000797650 -- 89,519,452(+) ATCTT(-/AATC)AACAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GALNT4 Gene

Variant ID Type Subtype PubMed ID
nsv832479 CNV gain 17160897

Variation tolerance for GALNT4 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.98; 84.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT4 Gene

Disorders for GALNT4 Gene

Relevant External Links for GALNT4

Genetic Association Database (GAD)
GALNT4
Human Genome Epidemiology (HuGE) Navigator
GALNT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT4

No disorders were found for GALNT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT4 Gene

Publications for GALNT4 Gene

  1. 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). (PMID: 18259693) O'Halloran A.M. … Shields D.C. (J. Thromb. Thrombolysis 2009) 3 22 46 64
  2. Cloning of a human UDP-N-acetyl-alpha-D-Galactosamine:polypeptide N- acetylgalactosaminyltransferase that complements other GalNAc- transferases in complete O-glycosylation of the MUC1 tandem repeat. (PMID: 9804815) Bennett E.P. … Clausen H. (J. Biol. Chem. 1998) 2 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The lectin domain of UDP-N-acetyl-D-galactosamine: polypeptide N- acetylgalactosaminyltransferase-T4 directs its glycopeptide specificities. (PMID: 10984485) Hassan H. … Clausen H. (J. Biol. Chem. 2000) 3 4 64
  5. Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome. (PMID: 26908625) Johansson A.8. … Wallentin L. (Hum. Mol. Genet. 2016) 3 64

Products for GALNT4 Gene

Sources for GALNT4 Gene

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