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Aliases for GALNT3 Gene

Aliases for GALNT3 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 3 2 3 5
  • Polypeptide GalNAc Transferase 3 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 3 (GalNAc-T3) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 3 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 3 3 4
  • Pp-GaNTase 3 3 4
  • EC 2.4.1.41 4 63
  • GalNAc-T3 3 4
  • Polypeptide GalNAc-Transferase T3 3
  • GalNAc Transferase 3 3
  • HFTC 3
  • HHS 3

External Ids for GALNT3 Gene

Previous GeneCards Identifiers for GALNT3 Gene

  • GC02M164658
  • GC02M165145
  • GC02M166567
  • GC02M166805
  • GC02M166428
  • GC02M166311
  • GC02M158486

Summaries for GALNT3 Gene

Entrez Gene Summary for GALNT3 Gene

  • This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNT3 Gene

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3) is a Protein Coding gene. Diseases associated with GALNT3 include tumoral calcinosis, hyperphosphatemic, familial and hypotrichosis 1. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include calcium ion binding and transferase activity, transferring glycosyl groups. An important paralog of this gene is GALNT4.

UniProtKB/Swiss-Prot for GALNT3 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 activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis.

Gene Wiki entry for GALNT3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT3 Gene

Genomics for GALNT3 Gene

Regulatory Elements for GALNT3 Gene

Promoters for GALNT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALNT3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GALNT3 Gene

Chromosome:
2
Start:
165,747,591 bp from pter
End:
165,794,682 bp from pter
Size:
47,092 bases
Orientation:
Minus strand

Genomic View for GALNT3 Gene

Genes around GALNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT3 Gene

Proteins for GALNT3 Gene

  • Protein details for GALNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14435-GALT3_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 3
    Protein Accession:
    Q14435
    Secondary Accessions:
    • Q53TG9
    • Q7Z476

    Protein attributes for GALNT3 Gene

    Size:
    633 amino acids
    Molecular mass:
    72610 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor differentiation.
    SequenceCaution:
    • Sequence=AAH56246.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT3 Gene

Proteomics data for GALNT3 Gene at MOPED

Post-translational modifications for GALNT3 Gene

  • Glycosylation at Thr 130, Thr 131, Asn 132, Asn 297, and Asn 484
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GALNT3 (Polypeptide GalNac Transferase 3/GALNT3)

Domains & Families for GALNT3 Gene

Gene Families for GALNT3 Gene

Suggested Antigen Peptide Sequences for GALNT3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14435

UniProtKB/Swiss-Prot:

GALT3_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 binds to GalNAc and contributes to the glycopeptide specificity.
  • Contains 1 ricin B-type lectin domain.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT3: view

Function for GALNT3 Gene

Molecular function for GALNT3 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 activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis.

Enzyme Numbers (IUBMB) for GALNT3 Gene

Gene Ontology (GO) - Molecular Function for GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030145 manganese ion binding IDA 9295285
genes like me logo Genes that share ontologies with GALNT3: view
genes like me logo Genes that share phenotypes with GALNT3: view

Human Phenotype Ontology for GALNT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALNT3 Gene

MGI Knock Outs for GALNT3:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for GALNT3 Gene

Localization for GALNT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Resides preferentially in the trans and medial parts of the Golgi stack.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALNT3 Gene COMPARTMENTS Subcellular localization image for GALNT3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0048471 perinuclear region of cytoplasm IDA 12506059
genes like me logo Genes that share ontologies with GALNT3: view

Pathways & Interactions for GALNT3 Gene

genes like me logo Genes that share pathways with GALNT3: view

Pathways by source for GALNT3 Gene

UniProtKB/Swiss-Prot Q14435-GALT3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0018242 protein O-linked glycosylation via serine IDA 9295285
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with GALNT3: view

No data available for SIGNOR curated interactions for GALNT3 Gene

Drugs & Compounds for GALNT3 Gene

(3) Drugs for GALNT3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0
Manganese Pharma 32

(3) Additional Compounds for GALNT3 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 GALNT3: view

Transcripts for GALNT3 Gene

Unigene Clusters for GALNT3 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5: - -
SP6: - -
SP7:
SP8: - - -

ExUns: 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GALNT3 Gene

GeneLoc Exon Structure for
GALNT3
ECgene alternative splicing isoforms for
GALNT3

Expression for GALNT3 Gene

mRNA expression in normal human tissues for GALNT3 Gene

mRNA differential expression in normal tissues according to GTEx for GALNT3 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.7) and Minor Salivary Gland (x4.4).

Protein differential expression in normal tissues from HIPED for GALNT3 Gene

This gene is overexpressed in Islet of Langerhans (19.8), Salivary gland (9.7), Breast (7.6), Stomach (7.0), and Cervix (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALNT3 Gene



SOURCE GeneReport for Unigene cluster for GALNT3 Gene Hs.170986

mRNA Expression by UniProt/SwissProt for GALNT3 Gene

Q14435-GALT3_HUMAN
Tissue specificity: Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney.
genes like me logo Genes that share expression patterns with GALNT3: view

Protein tissue co-expression partners for GALNT3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GALNT3 Gene

Orthologs for GALNT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GALNT3 35
  • 93.58 (n)
  • 95.58 (a)
GALNT3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT3 35
  • 94.04 (n)
  • 95.57 (a)
GALNT3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt3 35
  • 87.1 (n)
  • 91.94 (a)
Galnt3 16
Galnt3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALNT3 35
  • 99.32 (n)
  • 99.21 (a)
GALNT3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galnt3 35
  • 87.26 (n)
  • 91.94 (a)
oppossum
(Monodelphis domestica)
Mammalia GALNT3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT3 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT3 35
  • 77.57 (n)
  • 79.84 (a)
GALNT3 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT3 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt3 35
  • 72.07 (n)
  • 74.8 (a)
zebrafish
(Danio rerio)
Actinopterygii GALNT3 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7297 37
  • 33 (a)
CG7304 37
  • 32 (a)
GalNAc-T1 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39E4B.12a 37
  • 45 (a)
Y39E4B.12b 37
  • 45 (a)
Y39E4B.12c 37
  • 45 (a)
Y47D3A.23 37
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
Species with no ortholog for GALNT3:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 GALNT3 Gene

ENSEMBL:
Gene Tree for GALNT3 (if available)
TreeFam:
Gene Tree for GALNT3 (if available)

Paralogs for GALNT3 Gene

genes like me logo Genes that share paralogs with GALNT3: view

Variants for GALNT3 Gene

Sequence variations from dbSNP and Humsavar for GALNT3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs744157 -- 165,783,767(-) TTTTA(A/G)AATTT intron-variant
rs744158 -- 165,784,065(-) GCTGA(G/T)ACCGG intron-variant
rs1048222 -- 165,748,214(-) TAAGG(A/G)GAAGA utr-variant-3-prime
rs1076969 -- 165,784,064(-) CTGAG(A/T)CCGGT intron-variant
rs1364688 -- 165,790,399(-) AACTC(A/G)TGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT3 Gene

Variant ID Type Subtype PubMed ID
esv2657879 CNV Deletion 23128226

Variation tolerance for GALNT3 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALNT3 Gene

HapMap Linkage Disequilibrium report
GALNT3
Human Gene Mutation Database (HGMD)
GALNT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT3 Gene

Disorders for GALNT3 Gene

MalaCards: The human disease database

(31) MalaCards diseases for GALNT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GALT3_HUMAN
  • Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269 PubMed:15133511, ECO:0000269 PubMed:15599692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GALNT3

Genetic Association Database (GAD)
GALNT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT3
genes like me logo Genes that share disorders with GALNT3: view

No data available for Genatlas for GALNT3 Gene

Publications for GALNT3 Gene

  1. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (PMID: 15133511) Topaz O. … Sprecher E. (Nat. Genet. 2004) 2 3 4 23 67
  2. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (PMID: 19830424) Joseph L. … Delaney D. (Skeletal Radiol. 2010) 3 23
  3. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (PMID: 20358599) Ichikawa S. … Econs M.J. (Am. J. Med. Genet. A 2010) 3 23
  4. A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. (PMID: 19411468) Masi L. … Brandi M.L. (J Bone Joint Surg Am 2009) 3 23
  5. Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. (PMID: 18618993) Laleye A. … Arveiler B. (Genet. Couns. 2008) 3 23

Products for GALNT3 Gene

Sources for GALNT3 Gene

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