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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GALNT1 Gene

protein-coding   GIFtS: 62
GCID: GC18P033161

UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 1 (GalNAc-T1)1 2
     EC 2.4.1.413 8
Protein-UDP Acetylgalactosaminyltransferase 11 2 3     GALNAC-T12
Polypeptide GalNAc Transferase 12 3     GalNAc Transferase 12
Pp-GaNTase 12 3     Polypeptide N-Acetylgalactosaminyltransferase 12
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 12 3     GalNAc-T13

External Ids:    HGNC: 41231   Entrez Gene: 25892   Ensembl: ENSG000001414297   OMIM: 6022735   UniProtKB: Q104723   

Export aliases for GALNT1 gene to outside databases

Previous GC identifers: GC18P033265 GC18P033054 GC18P031486 GC18P031488 GC18P030094


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)) is a protein-coding gene. Diseases associated with GALNT1 include colon adenocarcinoma, and intrahepatic cholangiocarcinoma, and among its related super-pathways are Mucin type O-Glycan biosynthesis and Post-translational protein modification. GO annotations related to this gene include manganese ion binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT6.

UniProtKB/Swiss-Prot: GALT1_HUMAN, Q10472
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

Gene Wiki entry for GALNT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GALNT1 gene promoter:
         POU2F2 (Oct-2.1)   POU2F2   Gfi-1   POU2F2C   MEF-2A   PPAR-gamma1   POU2F1a   aMEF-2   PPAR-gamma2   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GALNT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.2   HGNC cytogenetic band: 18q12.1

GALNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P033161:  view genomic region     (about GC identifiers)

Start:
33,161,081 bp from pter      End:
33,291,798 bp from pter
Size:
130,718 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GALT1_HUMAN, Q10472 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 1  
Size: 559 amino acids; 64219 Da
Cofactor: Manganese
Cofactor: Calcium
Subcellular location: Polypeptide N-acetylgalactosaminyltransferase 1: Golgi apparatus, Golgi stack membrane;
Single-pass type II membrane protein
Subcellular location: Polypeptide N-acetylgalactosaminyltransferase 1 soluble form: Secreted
Secondary accessions: Q86TJ7 Q9UM86
Alternative splicing: 2 isoforms:  Q10472-1   Q10472-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT1: NX_Q10472

Explore proteomics data for GALNT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q10472

  • 4/33 DME Specific Peptides for GALNT1 (Q10472) (see all 33)
     LNRSLPD  LLRTVHS  VVCPIID  PTMAGGL 

    GALNT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GALNT1 Protein Expression
    REFSEQ proteins: NP_065207.2  
    ENSEMBL proteins: 
     ENSP00000465699   ENSP00000465341   ENSP00000269195   ENSP00000466411   ENSP00000465452  
     ENSP00000440910  
    Reactome Protein details: Q10472
    Human Recombinant Protein Products for GALNT1: 
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    Cloud-Clone Corp. Proteins for GALNT1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region IEA--
    GO:0005794colocalizes with Golgi apparatus IDA12506059
    GO:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    GALNT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GLT2: Glycosyltransferase family 2 domain containing

    2 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q10472

    ProtoNet protein and cluster: Q10472

    2 Blocks protein domains:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GALT1_HUMAN, Q10472
    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 (By similarity)
    Domain: 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)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    GALNT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALT1_HUMAN, Q10472
    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
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Genatlas biochemistry entry for GALNT1:
    galactosamine

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IDA9295285
    GO:0030145manganese ion binding IDA9295285
         
    GALNT1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Galnt1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     normal 

    GALNT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Galnt1tm1.1Jxm for GALNT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GALNT1 
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    hsa-miR-323-3p hsa-miR-15a hsa-miR-218-1* hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-4325 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidGALNT1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GALNT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44
    Mucin type O-Glycan biosynthesis0.44
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for GALNT1
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for GALNT1):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT1_HUMAN, Q10472
    Pathway: Protein modification; protein glycosylation


    GALNT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALNT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for GALNT1 (Q104723 ENSP000002691954) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC1P159413, ENSP000003389834I2D: score=1 STRING: ENSP00000338983
    PTPRFP105863, ENSP000003530304I2D: score=2 STRING: ENSP00000353030
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    B3GNT6ENSP000003462564STRING: ENSP00000346256
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006493protein O-linked glycosylation TAS9592121
    GO:0016266O-glycan processing TAS--
    GO:0018242protein O-linked glycosylation via serine IDA9295285
    GO:0018243protein O-linked glycosylation via threonine IDA9295285
    GO:0043687post-translational protein modification TAS--

    GALNT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GALNT1 (GALT1)

    5 HMDB Compounds for GALNT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--

    1 DrugBank Compound for GALNT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--10592235

    Search CenterWatch for drugs/clinical trials and news about GALNT1 / GALT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GALNT1 gene: 
    NM_020474.3  

    Unigene Cluster for GALNT1:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)
    Hs.514806  [show with all ESTs]
    Unigene Representative Sequence: NM_020474
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000586725 ENST00000591924 ENST00000589189 ENST00000269195(uc002kyz.4 uc010dmu.3 uc002kza.2 uc002kzb.3)
    ENST00000591081 ENST00000590654 ENST00000537549
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    Additional mRNA sequence: 

    AJ505952.1 AK293062.1 BC038440.1 BC047746.1 U41514.1 X85018.1 

    13 DOTS entries:

    DT.455584  DT.101980352  DT.436463  DT.91747344  DT.86855071  DT.75184907  DT.100782370  DT.91747354 
    DT.100034171  DT.100782374  DT.91684940  DT.108980  DT.99982239 

    24/285 AceView cDNA sequences (see all 285):

    AI382886 AU116968 BU188499 AI625584 BM668856 CA441418 AU098675 N77823 
    N54616 BF055459 AV705113 AA775567 AA436518 AI370238 BU783133 AI400764 
    BM712780 AI088329 N42681 T32595 CK431238 BM979425 AA769254 BP378338 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GALNT1 expression in normal human tissues (normalized intensities)      GALNT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAACAGTAA
    GALNT1 Expression
    About this image


    GALNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/47 selected tissues (see all 47) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Globus Pallidus
             Olfactory Bulb   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/ventricle   

    See GALNT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT1

    SOURCE GeneReport for Unigene cluster: Hs.514806

    UniProtKB/Swiss-Prot: GALT1_HUMAN, Q10472
    Tissue specificity: Widely expressed. Expressed in all tissues tested

        SABiosciences Expression via Pathway-Focused PCR Arrays including GALNT1: 
              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GALNT1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt11 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 93.62(n)1
    98.39(a)1
      18 (12.90 cM)5
    144231  NM_001160404.11  NP_001153876.11 
     242053445 
    chicken
    (Gallus gallus)
    Aves GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 86.29(n)
    97.67(a)
      420955  NM_001006381.1  NP_001006381.1 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT16
    Uncharacterized protein
    97(a)
    1 ↔ 1
    6(57567083-57609567)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686642 hypothetical protein MGC68664 82.84(n)    BC060419.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galnt11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 77.74(n)
    91.38(a)
      559073  XM_682380.4  XP_687472.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91523
    pgant51
    polypeptide
    N-acetylgalactosaminyltransferase3
    polypeptide GalNAc transferase 51
    65(a)
    (best of 8)3
    60.56(n)1
    65.54(a)1
      3261511  NM_135062.31  NP_608906.21 
    worm
    (Caenorhabditis elegans)
    Secernentea H38K22.5c3
    gly-31
    Glycosyl transferases3
    Protein GLY-31
    53(a)
    (best of 9)3
    55.78(n)1
    52.37(a)1
      III(4397051-4399739)3
    1761121  NM_066321.41  NP_498722.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALNT1 gene
    GALNT62  POC1B-GALNT42  GALNT122  GALNT52  GALNT72  GALNTL62  GALNT142  GALNTL52  
    GALNT32  GALNT22  GALNT102  GALNT42  GALNT132  GALNT162  GALNT112  
    18/24 SIMAP similar genes for GALNT1 using alignment to 6 protein entries:     GALT1_HUMAN (see all proteins) (see all similar genes):
    GALNT13    GALNTL6    GALNT2    GALNT6    GALNT4    GALNTL5
    GALNT14    GALNT11    GALNT3    POC1B-GALNT4    GalNAc-T16    GALNT5
    GalNAc-T10    GALNT10    GALNT16    WBSCR17    GALNT19    GALNT15

    GALNT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GALNT1
    PGOHUM00000237122


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1048 SNPs in GALNT1 are shown (see all 1048)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6074981,2
    C,F,O,A,H--33232590(+) TCCTTT/GCATTG 1 -- us2k114Minor allele frequency- G:0.25NS EA NA WA 926
    rs1849456321,2
    --33232592(+) CTTTCA/GTTGTT 1 -- us2k10--------
    rs1883957131,2
    --33232802(+) GTAGAA/TGAAAA 1 -- us2k10--------
    rs1510579111,2
    C--33232833(+) TTCTGA/CAGGCA 1 -- us2k10--------
    rs1912862921,2
    --33232849(+) TTCAAA/GTAGGA 1 -- us2k10--------
    rs1410158871,2
    --33232865(+) GAGACC/TGTAAA 1 -- us2k10--------
    rs1122149141,2
    C,F--33232876(+) ACCACG/ATTTGA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs38100551,2
    C,F,H--33232877(-) TTCAAA/GTGTGG 1 -- us2k122Minor allele frequency- G:0.08EA NA NS WA 3674
    rs38100541,2
    C,F,H--33232909(+) TCAGAC/GTGCTT 1 -- us2k123Minor allele frequency- G:0.10NA NS EA WA CSA 2348
    rs734188741,2
    C,F--33232955(+) ATAACA/GCAAAA 1 -- us2k12Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for GALNT1 (33161081 - 33291798 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GALNT1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GALNT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602273    OMIM disorders: --

    7 diseases for GALNT1:    About MalaCards
    colon adenocarcinoma    intrahepatic cholangiocarcinoma    cholangiocarcinoma    meningioma
    ovarian cancer    gastric cancer    adenocarcinoma


    GALNT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT1
    Human Genome Epidemiology (HuGE) Navigator: GALNT1 (3 documents)

    Export disorders for GALNT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GALNT1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with GALNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase. (PubMed id 7592619)1, 2, 3 White T....Clausen H. (1995)
    2. Polymorphism in the GALNT1 gene and epithelial ovaria n cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium . (PubMed id 20142253)1, 4, 9 Phelan C.M....Sellers T.A. (2010)
    3. Identification of two cysteine residues involved in t he binding of UDP-GalNAc to UDP-GalNAc:polypeptide N-acetylgalactosaminyltransf erase 1 (GalNAc-T1). (PubMed id 12199709)1, 3, 9 Tenno M....Kurosaka A. (2002)
    4. Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer. (PubMed id 18268124)1, 4 Sellers T.A....Phelan C. (2008)
    5. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1, 4 Cronin S....Hardiman O. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. (PubMed id 9394011)1, 2 Roettger S.... Nilsson T. (1998)
    8. Substrate specificities of three members of the human UDP-N-acetyl- alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3. (PubMed id 9295285)1, 2 Wandall H.H.... Clausen H. (1997)
    9. Organization of a human UDP-GalNAc:polypeptide, N- acetylgalactosaminyltransferase gene and a related processed pseudogene. (PubMed id 8727794)1, 2 Meurer J.A.... Elhammer A.P. (1996)
    10. cDNA cloning, expression, and chromosomal localization of a human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase. (PubMed id 8690719)1, 2 Meurer J.A....Elhammer A.P. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2589 HGNC: 4123 AceView: GALNT1 Ensembl:ENSG00000141429 euGenes: HUgn2589
    ECgene: GALNT1 Kegg: 2589 H-InvDB: GALNT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GALNT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_483

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GALNT1 gene:
    Search GeneIP for patents involving GALNT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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