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 ... See more...

Aliases for GALNT1 Gene

Aliases for GALNT1 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 1 2 3 4 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 52
  • GalNAc Transferase 1 3
  • GALNAC-T1 3
  • GalNAc-T1 4

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 of proteins and Metabolism. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for GALNT1 Gene

Genomics for GALNT1 Gene

GeneHancer (GH) Regulatory Elements for GALNT1 Gene

Promoters and enhancers for GALNT1 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
GH18J035580 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.2 1184 4.2 EP300 ZSCAN5C NRF1 POLR2G USF1 PHF8 ZFX ZNF10 POLR2A ZNF263 GALNT1 MIR3975 lnc-GALNT1-2
GH18J035654 Promoter/Enhancer 0.5 EPDnew Ensembl 504.9 +72.5 72484 2.4 GALNT1 C18orf21 INO80C piR-33605-203 lnc-INO80C-2 lnc-GALNT1-2
GH18J035578 Enhancer 0.4 ENCODE 500.7 -1.8 -1828 1.5 SCRT1 CBX2 PRDM10 GALNT1 lnc-GALNT1-2
GH18J035512 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -66.1 -66147 5.3 TCF12 ZIC2 TRIM28 CTCF ZNF316 POLR2A FOS NR3C1 FOSL2 CEBPB GALNT1 ZNF396 INO80C lnc-GALNT1-2
GH18J035610 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 17.1 +36.2 36184 15.8 ZBTB40 ZSCAN5C SP1 FOS ZNF10 EP300 TRIM28 KLF7 TRIM22 ATF2 ENSG00000268573 GALNT1 ZNF397 SLC39A6 piR-57176-304 ENSG00000266965 lnc-GALNT1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNT1

Top Transcription factor binding sites by QIAGEN in the GALNT1 gene promoter:
  • aMEF-2
  • Gfi-1
  • MEF-2A
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GALNT1 Gene

Genomic Locations for GALNT1 Gene
chr18:35,581,117-35,711,834
(GRCh38/hg38)
Size:
130,718 bases
Orientation:
Plus strand
chr18:33,161,081-33,291,798
(GRCh37/hg19)
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 Asn95 and Asn552
  • 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

Protein Domains for GALNT1 Gene

Blocks:
  • Glycosyl transferase, family 2
  • Ricin B lectin domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GALNT1 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1 (GALT1_HUMAN)
  • GALNT1 protein (Q05BM8_HUMAN)
  • Polypeptide N-acetylgalactosaminyltransferase 1 (Q68VJ7_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41;.
GENATLAS Biochemistry:
galactosamine

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 IDA,TAS 9295285
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

Clone Products

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
golgi apparatus 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
mitochondrion 0

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,HDA 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 TAS,ISS --
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
Calcium Approved Nutra 7884
Manganese Approved Nutra 51
Uridine 5'-diphosphate Experimental Pharma 0
mannose Investigational Pharma 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
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-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

mRNA/cDNA for GALNT1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for GALNT1 Gene

GeneLoc Exon Structure for
GALNT1

Expression for GALNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GALNT1 Gene



Protein tissue co-expression partners for GALNT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT1 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT1 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT1 31 30
  • 96.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT1 31 30
  • 95.05 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt1 17 31 30
  • 93.62 (n)
rat
(Rattus norvegicus)
Mammalia Galnt1 30
  • 92.31 (n)
chicken
(Gallus gallus)
Aves GALNT1 31 30
  • 86.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT1 31
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt1 30
  • 80.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68664 30
zebrafish
(Danio rerio)
Actinopterygii galnt1 31 30
  • 77.74 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9152 32
  • 65 (a)
pgant5 31 30
  • 59.95 (n)
OneToMany
BcDNA:GH09147 32
  • 56 (a)
GalNAc-T1 32
  • 41 (a)
CG2103 32
  • 38 (a)
CG7297 32
  • 34 (a)
CG7579 32
  • 30 (a)
CG7304 32
  • 30 (a)
CG10000 32
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008613 30
  • 59.12 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-3 31 32 30
  • 55.82 (n)
OneToMany
H38K22.5c 32
  • 53 (a)
Y39E4B.12a 32
  • 51 (a)
Y39E4B.12c 32
  • 51 (a)
Y39E4B.12b 32
  • 50 (a)
H38K22.5b 32
  • 45 (a)
gly-7 32
  • 42 (a)
Y45F10D.3 32
  • 41 (a)
Y47D3A.23 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT1: view image

Paralogs for GALNT1 Gene

(24) SIMAP similar genes for GALNT1 Gene using alignment to 6 proteins:

  • GALT1_HUMAN
  • F5GY99_HUMAN
  • K7EJV8_HUMAN
  • K7EK46_HUMAN
  • Q05BM8_HUMAN
  • Q68VJ7_HUMAN

Pseudogenes.org Pseudogenes for GALNT1 Gene

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

Variants for GALNT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNT1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs34304568 - p.Tyr414Asp

Additional dbSNP identifiers (rs#s) for GALNT1 Gene

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)

Additional Variant Information 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

Additional Disease Information for GALNT1

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

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 23 41 54
  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 23 54
  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 54
  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 41 54
  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 41 54

Products for GALNT1 Gene

Sources for GALNT1 Gene