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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 58
  • 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 Mucin type O-glycan biosynthesis and O-linked glycosylation. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT13.

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

Additional gene information for GALNT1 Gene

No data available for CIViC summary , 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 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
GH18H035512 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -66.6 -66580 4 TBP JUN MAX KLF17 RAD21 ZIC2 GLIS2 GATA3 ZNF316 SMC3 GALNT1 ZNF396 INO80C
GH18H035613 1.2 Ensembl ENCODE 17.1 +35.7 35731 7 PKNOX1 FEZF1 FOS ATF7 RUNX3 JUNB REST ZNF518A ZSCAN16 STAT3 ENSG00000268573 GALNT1 ZNF397 SLC39A6 ENSG00000266965 LOC105372065
GH18H035407 1.4 FANTOM5 Ensembl ENCODE 11.4 -172.1 -172127 2 ELF3 HDGF PKNOX1 ATF1 RB1 ARID4B RAD21 RFX5 ZNF143 RUNX3 ZNF396 GALNT1 LOC105372063 RPL7AP67
GH18H035633 0.8 Ensembl ENCODE 15.7 +54.1 54112 3 PKNOX1 JUN HLF FOS GALNT1 ENSG00000266965 LOC105372065
GH18H035501 1.1 Ensembl ENCODE dbSUPER 11.3 -79.1 -79101 0 MAFG REST MIER2 ZNF644 ZNF316 MAFF ZSCAN29 EMSY MAFK SPI1 GALNT1 ZNF396 INO80C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000102236 583 2201 PKNOX1 RB1 SIN3A ZBTB40 ZNF2 GLIS2 GATA2 ZNF143 ZNF207 ATF7

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

Selected DME Specific Peptides for GALNT1 Gene

Q10472:
  • FKINQFNLMAS
  • VITFLDAHCECT
  • GGFNWKLNFRWY
  • LLRTVHS
  • RLAEVWMD
  • RKENEKVGIFNCHGMGGNQVFSYTA
  • GNQLWEYD
  • VVCPIID
  • YCKVVLATSL
  • FFYIISPGV
  • PIIDVISDDTFEY
  • AGGLFSI
  • WLEPLLARI
  • RTVHSVI
  • SFRIWQCGG
  • VGHVFRK
  • EDSQVPSIRDC
  • NRSLPDVRLEGCKTKVYPD
  • LNRSLPD
  • SLGEIRNVETNQCLDNM
  • WVLLDMFLLLYFSECNKC
  • WYLENIYP
  • PTMAGGL
  • LVDDASERDFL
  • MDIWGGEN
  • GLIRARL
  • SVINRSP
  • WGGENLE
  • FHNEAWS
  • GSRSQQWLLRN
  • ERGLPAGDVLE
  • GWLEPLL
  • KEIRTDDLCLDVS

Post-translational modifications for GALNT1 Gene

  • Glycosylation at isoforms=295 and posLast=552552
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT1 Gene

Domains & Families for GALNT1 Gene

Gene Families for GALNT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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).
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

Phenotypes From GWAS Catalog for GALNT1 Gene

Gene Ontology (GO) - Molecular Function for GALNT1 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:0030145 manganese ion binding IDA 9295285
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GALNT1: view
genes like me logo Genes that share phenotypes with GALNT1: view

Animal Models for GALNT1 Gene

MGI Knock Outs for GALNT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GALNT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for 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
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 GALNT1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 colocalizes_with Golgi apparatus IDA 12506059
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with GALNT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GALNT1 Gene

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:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation ISS,TAS --
GO:0016266 O-glycan processing TAS --
GO:0018242 protein O-linked glycosylation via serine IDA 9295285
GO:0018243 protein O-linked glycosylation via threonine IDA 9295285
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

(4) Drugs for GALNT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Uridine-5'-Diphosphate Experimental Pharma 0
mannose Investigational Pharma 0
calcium Nutra 0

(3) Additional Compounds for GALNT1 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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GALNT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GALNT1 Gene



Protein tissue co-expression partners for GALNT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALNT1 Gene:

GALNT1

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.

Evidence on tissue expression from TISSUES for GALNT1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with GALNT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GALNT1 33 34
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNT1 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT1 33 34
  • 96.06 (n)
cow
(Bos Taurus)
Mammalia GALNT1 33 34
  • 95.05 (n)
mouse
(Mus musculus)
Mammalia Galnt1 33 16 34
  • 93.62 (n)
rat
(Rattus norvegicus)
Mammalia Galnt1 33
  • 92.31 (n)
chicken
(Gallus gallus)
Aves GALNT1 33 34
  • 86.29 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT1 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt1 33
  • 80.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68664 33
zebrafish
(Danio rerio)
Actinopterygii galnt1 33 34
  • 77.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9152 35
  • 65 (a)
pgant5 33 34
  • 59.95 (n)
BcDNA:GH09147 35
  • 56 (a)
GalNAc-T1 35
  • 41 (a)
CG2103 35
  • 38 (a)
CG7297 35
  • 34 (a)
CG10000 35
  • 30 (a)
CG7304 35
  • 30 (a)
CG7579 35
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008613 33
  • 59.12 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-3 35 33 34
  • 55.82 (n)
H38K22.5c 35
  • 53 (a)
Y39E4B.12a 35
  • 51 (a)
Y39E4B.12c 35
  • 51 (a)
Y39E4B.12b 35
  • 50 (a)
H38K22.5b 35
  • 45 (a)
gly-7 35
  • 42 (a)
Y45F10D.3 35
  • 41 (a)
Y47D3A.23 35
  • 41 (a)
Species where no ortholog for GALNT1 was found in the sources mined by GeneCards:
  • 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

Variants for GALNT1 Gene

Sequence variations from dbSNP and Humsavar for GALNT1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000008438 -- 35,630,932(+) TCTAC(A/G)CAAAT intron-variant
rs1000014358 -- 35,682,572(+) AAAAA(C/T)GTTTT intron-variant
rs1000017140 -- 35,699,418(+) GACTA(C/T)TGAAT intron-variant
rs1000039314 -- 35,602,146(+) TCTGG(C/G)TTGGT intron-variant
rs1000051557 -- 35,670,771(+) AGATC(A/G)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT1 Gene

Variant ID Type Subtype PubMed ID
esv3642205 CNV loss 21293372
nsv1065113 CNV loss 25217958
nsv478481 CNV novel sequence insertion 20440878

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium. (PMID: 20142253) Phelan CM … Australian Ovarian Cancer Study Group (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 22 45 60
  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 (European journal of biochemistry 2002) 2 3 22 60
  3. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase. (PMID: 7592619) White T … Clausen H (The Journal of biological chemistry 1995) 2 3 4 60
  4. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 45 60
  5. Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer. (PMID: 18268124) Sellers TA … Phelan C (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60

Products for GALNT1 Gene

Sources for GALNT1 Gene

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