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Aliases for GALNT1 Gene

Aliases for GALNT1 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 1 2 3 5
  • Protein-UDP Acetylgalactosaminyltransferase 1 2 3 4
  • Polypeptide GalNAc Transferase 1 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 1 (GalNAc-T1) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 1 3 4
  • Pp-GaNTase 1 3 4
  • EC 2.4.1.41 4 63
  • GALNAC-T1 3 4
  • GalNAc Transferase 1 3

External Ids for GALNT1 Gene

Previous GeneCards Identifiers for GALNT1 Gene

  • GC18P033265
  • GC18P033054
  • GC18P031486
  • GC18P031488
  • GC18P033161
  • GC18P030094

Summaries for GALNT1 Gene

Entrez Gene Summary for GALNT1 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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNT1 Gene

GALNT1 (Polypeptide N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Mucin type O-Glycan biosynthesis. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT4.

UniProtKB/Swiss-Prot for GALNT1 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 broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7.

Gene Wiki entry for GALNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT1 Gene

Genomics for GALNT1 Gene

Regulatory Elements for GALNT1 Gene

Enhancers for GALNT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GALNT1 on UCSC Golden Path with GeneCards custom track

Promoters for GALNT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALNT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GALNT1 Gene

Chromosome:
18
Start:
35,581,117 bp from pter
End:
35,711,834 bp from pter
Size:
130,718 bases
Orientation:
Plus strand

Genomic View for GALNT1 Gene

Genes around GALNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT1 Gene

Proteins for GALNT1 Gene

  • Protein details for GALNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10472-GALT1_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 1
    Protein Accession:
    Q10472
    Secondary Accessions:
    • Q86TJ7
    • Q9UM86

    Protein attributes for GALNT1 Gene

    Size:
    559 amino acids
    Molecular mass:
    64219 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GALNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT1 Gene

Proteomics data for GALNT1 Gene at MOPED

Post-translational modifications for GALNT1 Gene

  • Glycosylation at Asn 95 and Asn 552
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT1 Gene

Antibody Products

  • R&D Systems Antibodies for GALNT1 (Polypeptide GalNac Transferase 1/GALNT1)

Domains & Families for GALNT1 Gene

Gene Families for GALNT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q10472

UniProtKB/Swiss-Prot:

GALT1_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 (By similarity).
  • 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 GALNT1: view

Function for GALNT1 Gene

Molecular function for GALNT1 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 broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7.

Enzyme Numbers (IUBMB) for GALNT1 Gene

genes like me logo Genes that share phenotypes with GALNT1: view

Animal Models for GALNT1 Gene

MGI Knock Outs for GALNT1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT1 Gene

Localization for GALNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT1 Gene

Polypeptide N-acetylgalactosaminyltransferase 1: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Polypeptide N-acetylgalactosaminyltransferase 1 soluble form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALNT1 Gene COMPARTMENTS Subcellular localization image for GALNT1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0048471 perinuclear region of cytoplasm IDA 12506059
genes like me logo Genes that share ontologies with GALNT1: view

Pathways & Interactions for GALNT1 Gene

genes like me logo Genes that share pathways with GALNT1: view

UniProtKB/Swiss-Prot Q10472-GALT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 GALNT1: view

No data available for SIGNOR curated interactions for GALNT1 Gene

Drugs & Compounds for GALNT1 Gene

(3) Drugs for GALNT1 Gene - From: HMDB

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

(4) Additional Compounds for GALNT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
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 GALNT1: view

Transcripts for GALNT1 Gene

Unigene Clusters for GALNT1 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT1 Gene

No ASD Table

Relevant External Links for GALNT1 Gene

GeneLoc Exon Structure for
GALNT1
ECgene alternative splicing isoforms for
GALNT1

Expression for GALNT1 Gene

mRNA expression in normal human tissues for GALNT1 Gene

Protein differential expression in normal tissues from HIPED for GALNT1 Gene

This gene is overexpressed in Cervix (29.8) and Peripheral blood mononuclear cells (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALNT1 Gene



SOURCE GeneReport for Unigene cluster for GALNT1 Gene Hs.514806

mRNA Expression by UniProt/SwissProt for GALNT1 Gene

Q10472-GALT1_HUMAN
Tissue specificity: Widely expressed. Expressed in all tissues tested.
genes like me logo Genes that share expression patterns with GALNT1: view

Protein tissue co-expression partners for GALNT1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GALNT1 Gene

Orthologs for GALNT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GALNT1 35
  • 95.05 (n)
  • 98.93 (a)
GALNT1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT1 35
  • 96.06 (n)
  • 99.46 (a)
GALNT1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt1 35
  • 93.62 (n)
  • 98.39 (a)
Galnt1 16
Galnt1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALNT1 35
  • 99.82 (n)
  • 100 (a)
GALNT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galnt1 35
  • 92.31 (n)
  • 98.93 (a)
oppossum
(Monodelphis domestica)
Mammalia GALNT1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT1 35
  • 86.29 (n)
  • 97.67 (a)
GALNT1 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT1 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt1 35
  • 80.64 (n)
  • 91.7 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68664 35
zebrafish
(Danio rerio)
Actinopterygii galnt1 35
  • 77.74 (n)
  • 91.38 (a)
galnt1 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH09147 37
  • 56 (a)
CG10000 37
  • 30 (a)
CG2103 37
  • 38 (a)
CG7297 37
  • 34 (a)
CG7304 37
  • 30 (a)
CG7579 37
  • 30 (a)
CG9152 37
  • 65 (a)
GalNAc-T1 37
  • 41 (a)
pgant5 35
  • 59.95 (n)
  • 63.55 (a)
pgant5 36
  • 55 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008613 35
  • 59.12 (n)
  • 67.47 (a)
worm
(Caenorhabditis elegans)
Secernentea gly-3 37
  • 47 (a)
gly-7 37
  • 42 (a)
H38K22.5b 37
  • 45 (a)
H38K22.5c 37
  • 53 (a)
Y39E4B.12a 37
  • 51 (a)
Y39E4B.12b 37
  • 50 (a)
Y39E4B.12c 37
  • 51 (a)
Y45F10D.3 37
  • 41 (a)
Y47D3A.23 37
  • 41 (a)
gly-3 35
  • 55.82 (n)
  • 53.02 (a)
gly-3 36
  • 46 (a)
OneToMany
Species with no ortholog for GALNT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GALNT1 Gene

ENSEMBL:
Gene Tree for GALNT1 (if available)
TreeFam:
Gene Tree for GALNT1 (if available)

Paralogs for GALNT1 Gene

Pseudogenes.org Pseudogenes for GALNT1 Gene

genes like me logo Genes that share paralogs with GALNT1: view

Variants for GALNT1 Gene

Sequence variations from dbSNP and Humsavar for GALNT1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_033946 -
rs1573367 -- 35,711,429(+) TCAAC(A/G)TCAAG downstream-variant-500B, utr-variant-3-prime
rs1627962 -- 35,637,030(+) tacaa(A/G)acggc intron-variant
rs7231862 -- 35,639,361(+) ggtag(A/T)atttt intron-variant
rs7232058 -- 35,644,666(+) TTGGG(G/T)TACCA intron-variant

Variation tolerance for GALNT1 Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALNT1 Gene

HapMap Linkage Disequilibrium report
GALNT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GALNT1 Gene

Disorders for GALNT1 Gene

Relevant External Links for GALNT1

Genetic Association Database (GAD)
GALNT1
Human Genome Epidemiology (HuGE) Navigator
GALNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT1

No disorders were found for GALNT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT1 Gene

Publications for GALNT1 Gene

  1. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase. (PMID: 7592619) White T. … Clausen H. (J. Biol. Chem. 1995) 2 3 4 67
  2. Identification of two cysteine residues involved in the binding of UDP-GalNAc to UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1). (PMID: 12199709) Tenno M. … Kurosaka A. (Eur. J. Biochem. 2002) 2 3 23
  3. Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium. (PMID: 20142253) Phelan C.M. … . (Cancer Epidemiol. Biomarkers Prev. 2010) 3 23
  4. The lectin domain of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1 is involved in O-glycosylation of a polypeptide with multiple acceptor sites. (PMID: 12364335) Tenno M. … Kurosaka A. (J. Biol. Chem. 2002) 3 23
  5. A human UDP-GalNAc: polypeptide, N-acetylgalactosaminyltransferase type 1 gene is located at the chromosomal region 18q12.1. (PMID: 9050910) Takai S. … Oshima M. (Hum. Genet. 1997) 3 23

Products for GALNT1 Gene

Sources for GALNT1 Gene

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