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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 56
  • 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 Metabolism of proteins and O-linked glycosylation. Gene Ontology (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.

Additional gene information for GALNT4 Gene

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

GeneHancer (GH) Regulatory Elements for GALNT4 Gene

Promoters and enhancers for GALNT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I089521 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 570.4 +0.7 676 5.8 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D ZNF610 GALNT4 POC1B POC1B-AS1 POC1B-GALNT4 ENSG00000258302 DUSP6 CENPCP1
GH12I089450 Enhancer 1.3 FANTOM5 Ensembl ENCODE 31.3 +72.1 72076 5.3 PKNOX1 FEZF1 RAD21 ETS1 ZNF213 EGR2 USF2 OVOL3 ZNF843 NR2F2 GALNT4 ENSG00000258302 DUSP6 POC1B CENPCP1 ENSG00000271259 LOC105369889
GH12I089345 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 +173.3 173307 13.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC DUSP6 PIR45161 LOC105369889 GC12P089354 GC12P089353 ENSG00000274021 GALNT4 POC1B RNU7-120P ATP2B1
GH12I089467 Enhancer 0.9 Ensembl ENCODE 32.4 +56.1 56131 2.7 JUN JUNB FEZF1 ELF1 BATF ATF2 ZNF843 ZNF217 PRDM6 GLIS1 GALNT4 ENSG00000258302 POC1B DUSP6 CENPCP1 ENSG00000271259
GH12I089544 Enhancer 0.9 Ensembl ENCODE 20.7 -20.1 -20082 1.8 NFIB TEAD4 TAL1 RAD21 TCF12 ZFHX2 GATA2 NCOR1 CBFA2T2 EZH2 ENSG00000279939 ENSG00000258302 GALNT4 POC1B-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GALNT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT4 gene promoter:

Genomic Locations for GALNT4 Gene

Genomic Locations for GALNT4 Gene
chr12:89,519,408-89,524,806
(GRCh38/hg38)
Size:
5,399 bases
Orientation:
Minus strand
chr12:89,913,185-89,920,039
(GRCh37/hg19)

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

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

Phenotypes From GWAS Catalog 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (2)
See all subcellular structures

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 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
calcium Approved Nutra 0
Manganese Approved Nutra 37
Uridine-5'-Diphosphate Experimental Pharma 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 33
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia GALNT4 33
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Galnt4 33
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Galnt4 33 16 34
  • 85.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt4 33
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii poc1bl 33 34
  • 67.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta GalNAc-T1 35
  • 39 (a)
CG2103 35
  • 37 (a)
CG7297 35
  • 31 (a)
CG7579 35
  • 31 (a)
CG7304 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39E4B.12a 35
  • 47 (a)
Y39E4B.12b 35
  • 46 (a)
Y39E4B.12c 35
  • 46 (a)
Y47D3A.23 35
  • 37 (a)
Y45F10D.3 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 34
  • 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 Variation AA Info Type
rs863223348 likely-pathogenic, Childhood-Onset Schizophrenia 89,523,356(-) G/A coding_sequence_variant, synonymous_variant
rs1000403457 -- 89,522,797(-) A/C/G 3_prime_UTR_variant
rs1000437746 -- 89,524,241(-) A/G coding_sequence_variant, synonymous_variant
rs1000683978 -- 89,524,504(-) C/T coding_sequence_variant, missense_variant
rs1000797650 -- 89,519,452(-) AATCAA/AA 3_prime_UTR_variant

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)

Additional Variant Information 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

Additional Disease Information for GALNT4

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

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 AM … Shields DC (Journal of thrombosis and thrombolysis 2009) 3 22 44 58
  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 EP … Clausen H (The Journal of biological chemistry 1998) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The lectin domain of UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase-T4 directs its glycopeptide specificities. (PMID: 10984485) Hassan H … Clausen H (The Journal of biological chemistry 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for GALNT4 Gene

Sources for GALNT4 Gene

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