Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GALNT3 Gene

protein-coding   GIFtS: 65
GCID: GC02M166567

Polypeptide N-Acetylgalactosaminyltransferase 3

(Previous name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...)
  See GALNT3-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

TryGeneCards Plus

Aliases
Polypeptide N-Acetylgalactosaminyltransferase 31 2     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 32 3
Polypeptide GalNAc Transferase 31 2 3     EC 2.4.1.413 8
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 3 (GalNAc-T3)1 2
     HFTC2 5
Protein-UDP Acetylgalactosaminyltransferase 32 3     HHS2 5
GalNAc-T32 3     GalNAc Transferase 32
Pp-GaNTase 32 3     Polypeptide GalNAc-Transferase T32

External Ids:    HGNC: 41251   Entrez Gene: 25912   Ensembl: ENSG000001153397   OMIM: 6017565   UniProtKB: Q144353   

Export aliases for GALNT3 gene to outside databases

Previous GC identifers: GC02M164658 GC02M165145 GC02M166805 GC02M166428 GC02M166311 GC02M158486


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

TryGeneCards Plus

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 hyperostosis-hyperphosphatemia syndrome, and hyperphosphatemic familial tumoral calcinosis, galnt3-related. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity and calcium ion binding. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
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

Gene Wiki entry for GALNT3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT3 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   C/EBPbeta   oct-B3   oct-B2   POU2F2   POU2F1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GALNT3 promoter sequence
   Search Chromatin IP Primers for GALNT3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT3


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

Entrez Gene cytogenetic band: 2q24-q31   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q24-q31

GALNT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M166567:  view genomic region     (about GC identifiers)

Start:
166,604,101 bp from pter      End:
166,651,192 bp from pter
Size:
47,092 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 3  
Size: 633 amino acids; 72610 Da
Cofactor: Manganese (By similarity)
Miscellaneous: Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor
differentiation
Sequence caution: Sequence=AAH56246.1; Type=Erroneous initiation;
Secondary accessions: Q53TG9 Q7Z476
Alternative splicing: 2 isoforms:  Q14435-1   Q14435-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT3: NX_Q14435

Explore proteomics data for GALNT3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr130, Thr131, Asn132, Asn297, Asn484
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT3 (Q14435) (see all 15)
     FHNEAWS  GWLEPLL  LLRTVHS  AGGLFSI 


    See GALNT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004473.2  
    ENSEMBL proteins: 
     ENSP00000376465   ENSP00000386955   ENSP00000412643   ENSP00000391104   ENSP00000397112  
     ENSP00000413477   ENSP00000413694   ENSP00000399880  
    Reactome Protein details: Q14435

    GALNT3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GALNT3 (Polypeptide GalNac Transferase 3/GALNT3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GALNT3
    GenScript Custom Purified and Recombinant Proteins Services for GALNT3
    Novus Biologicals GALNT3 Proteins
    Novus Biologicals GALNT3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GALNT3

     
    Search eBioscience for Proteins for GALNT3 

     
    antibodies-online proteins for GALNT3 (8 products) 

     
    antibodies-online peptides for GALNT3

    GALNT3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for GALNT3 (Polypeptide GalNac Transferase 3/GALNT3)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GALNT3
    Novus Biologicals GALNT3 Antibodies
    Abcam antibodies for GALNT3
    Cloud-Clone Corp. Antibodies for GALNT3
    ThermoFisher Antibody for GALNT3
    antibodies-online antibodies for GALNT3 (17 products) 

    GALNT3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GALNT3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GALNT3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GALNT3
    Cloud-Clone Corp. CLIAs for GALNT3
    Search eBioscience for ELISAs for GALNT3 
    antibodies-online kits for GALNT3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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 Q14435

    ProtoNet protein and cluster: Q14435

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


    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    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 binds to GalNAc and contributes to the glycopeptide specificity (By
    similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    Find genes that share domains with GALNT3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALT3_HUMAN, Q14435
    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
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Genatlas biochemistry entry for GALNT3:
    galactosamine

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IDA9295285
    GO:0005509calcium ion binding IDA9295285
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0030145manganese ion binding IDA9295285
         
    Find genes that share ontologies with GALNT3           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Galnt3):
     cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  limbs/digits/tail  other  renal/urinary system 
     reproductive system  skeleton 

    Find genes that share phenotypes with GALNT3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GALNT3: Galnt3tm1.1Cfg Galnt3tm1Mjec

       genOway: Develop your customized and physiologically relevant rodent model for GALNT3

    miRNA
    Products:
        
    miRTarBase miRNAs that target GALNT3:
    hsa-mir-16-5p (MIRT031681), hsa-mir-124-3p (MIRT022631), hsa-mir-340-5p (MIRT019609)

    Block miRNA regulation of human, mouse, rat GALNT3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GALNT3 (see all 25):
    hsa-miR-30c hsa-miR-520e hsa-miR-302d hsa-miR-3607-3p hsa-miR-4328 hsa-miR-139-5p hsa-miR-302e hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidGALNT3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GALNT3
    Predesigned siRNA for gene silencing in human, mouse, rat GALNT3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GALNT3

    Clone
    Products:
         
    OriGene clones in human, mouse for GALNT3 (see all 7)
    OriGene ORF clones in mouse, rat for GALNT3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GALNT3 (NM_004482)
    Sino Biological Human cDNA Clone for GALNT3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALNT3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GALNT3
    Browse ESI BIO Cell Lines and PureStem Progenitors for GALNT3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GALT3_HUMAN, Q14435: 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: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol3
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005794colocalizes with Golgi apparatus IDA12506059
    GO:0016020membrane TAS8663203

    Find genes that share ontologies with GALNT3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for GALNT3 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Mucin type O-Glycan biosynthesis0.47
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with GALNT3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GALNT3
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT3):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GALNT3: 

              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GALNT3

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

    Selected Interacting proteins for GALNT3 (ENSP000003764654) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT11ENSP000003158354STRING: ENSP00000315835
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS9592121
    GO:0016266O-glycan processing TAS--
    GO:0018242protein O-linked glycosylation via serine IDA9295285
    GO:0018243protein O-linked glycosylation via threonine IDA16638743
    GO:0043687post-translational protein modification TAS--

    Find genes that share ontologies with GALNT3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALNT3 (GALT3)

    5 HMDB Compounds for GALNT3    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 Novoseek inferred chemical compound relationship for GALNT3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 7.1 1 16567474 (1)



    Find genes that share compounds with GALNT3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GALNT3 gene: 
    NM_004482.3  

    Unigene Cluster for GALNT3:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
    Hs.170986  [show with all ESTs]
    Unigene Representative Sequence: NM_004482
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392701(uc010fph.1 uc002udi.2 uc010fpi.1) ENST00000409882
    ENST00000412248 ENST00000437849 ENST00000463254 ENST00000431484 ENST00000414977
    ENST00000422973 ENST00000447156
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GALNT3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GALNT3 (see all 25):
    hsa-miR-30c hsa-miR-520e hsa-miR-302d hsa-miR-3607-3p hsa-miR-4328 hsa-miR-139-5p hsa-miR-302e hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidGALNT3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GALNT3
    Predesigned siRNA for gene silencing in human, mouse, rat GALNT3
    Clone
    Products:
         
    OriGene clones in human, mouse for GALNT3 (see all 7)
    OriGene ORF clones in mouse, rat for GALNT3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GALNT3 (NM_004482)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALNT3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GALNT3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT3
      QuantiTect SYBR Green Assays in human, mouse, rat GALNT3
      QuantiFast Probe-based Assays in human, mouse, rat GALNT3

    Additional mRNA sequence: 

    AJ505954.1 AK307391.1 AK313389.1 BC056246.1 BC113565.1 BC113567.1 BX647473.1 X92689.1 

    5 DOTS entries:

    DT.101957921  DT.314484  DT.101962576  DT.121017732  DT.95267616 

    Selected AceView cDNA sequences (see all 187):

    CB123980 BX647473 CB217140 AW469254 AI659514 BM978908 CB850640 BM851511 
    BE645926 AA827219 CK430691 AA262123 CA395873 AI679332 AL702637 AI679315 
    AA639964 AA337550 AI888881 AW130549 BM550837 AA313468 BP356401 X92689 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALNT3 (see all 8)    About this scheme

    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:                          -     -                                                                                                                           

    ExUns: 14a · 14b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GALNT3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    GALNT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTGAATA
    GALNT3 Expression
    About this image


    GALNT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    GALNT3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170986

    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GALNT3: 
              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GALNT3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT3
    QuantiTect SYBR Green Assays in human, mouse, rat GALNT3
    QuantiFast Probe-based Assays in human, mouse, rat GALNT3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for GALNT3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt31 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 87.1(n)1
    91.94(a)1
      2 (38.99 cM)5
    144251  NM_015736.21  NP_056551.21 
     660827665 
    chicken
    (Gallus gallus)
    Aves GALNT31 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 77.57(n)
    79.84(a)
      424177  XM_422023.4  XP_422023.2 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT36
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    77(a)
    1 ↔ 1
    GL344080.1(43333-74699)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480118622   -- 75.57(n)    48011862 
    zebrafish
    (Danio rerio)
    Actinopterygii GALNT36
    Uncharacterized protein
    72(a)
    1 ↔ 1
    9(50837292-50853337) ENSDARG00000063724


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GALNT3 gene
    GALNT122  GALNT12  GALNTL62  GALNT102  GALNT22  GALNT132  GALNT62  POC1B-GALNT42  
    GALNT152  GALNT72  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
    Selected SIMAP similar genes for GALNT3 using alignment to 9 protein entries:     GALT3_HUMAN (see all proteins) (see all similar genes):
    GALNT6    POC1B-GALNT4    GALNTL5    GALNT4    GALNT1    GALNT15
    GALNTL6    GALNT11    GalNAc-T10    WBSCR17    GALNT2    GalNAc-T16
    GALNT19    GALNT7    GALNT12    GALNT13    GALNT14    GALNT9

    Find genes that share paralogs with GALNT3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GALNT3 (see all 956)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378530861,2
    Cpathogenic1166023727(-) TGCACC/TGAGAT 2 R * stg11Minor allele frequency- T:0.00NA 4550
    rs710312031,2
    C--158511037(+) TCTCA-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs1401574191,2
    --166000995(+) ACTTCA/GGGAAC 1 -- ds50010--------
    rs1883698691,2
    --166001023(+) AAATAC/TAAAAT 1 -- ds50010--------
    rs2005093701,2
    C--166001038(+) AAAAAA/CAAAAA 1 -- ds50010--------
    rs664977521,2
    C--166001039(+) AAAAC-/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1932949761,2
    --166001161(+) CAGGAA/GTTTTG 1 -- ds50010--------
    rs124772031,2
    H--166001191(+) CCATAA/GGAAAT 1 -- ds5001 ese34Minor allele frequency- G:0.00NS EA 418
    rs1849576361,2
    C--166001222(+) ATAGGC/TGCTTA 1 -- ds50010--------
    rs1446473291,2
    C--166001357(+) TAGAT-/AAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GALNT3 (166604101 - 166651192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GALNT3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657879CNV Deletion23128226

    Human Gene Mutation Database (HGMD): GALNT3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALNT3
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 601756   
    OMIM disorders: 211900  
    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for GALNT3:    
    About MalaCards
    hyperostosis-hyperphosphatemia syndrome    hyperphosphatemic familial tumoral calcinosis, galnt3-related    hyperphosphatemia    hyperphosphatemic familial tumoral calcinosis
    normophosphatemic familial tumoral calcinosis    calcinosis    testicular microlithiasis    familial tumoral calcinosis
    hyperostosis

    4 diseases from the University of Copenhagen DISEASES database for GALNT3:
    Calcinosis     Hyperphosphatemia     Hyperostosis     X-linked hypophosphatemia

    Find genes that share disorders with GALNT3           About GenesLikeMe

    4 Novoseek inferred disease relationships for GALNT3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcinosis, tumoral 97.8 24 15687324 (3), 20358599 (2), 18982401 (2), 19830424 (2) (see all 16)
    hyperphosphatemia 91.1 7 16733465 (1), 20358599 (1), 17311862 (1), 18322299 (1) (see all 6)
    hyperostosis 80.2 1 18322299 (1)
    calcification 76 5 17311862 (1), 16567474 (1), 16940445 (1), 17710231 (1)

    Genetic Association Database (GAD): GALNT3

    Export disorders for GALNT3 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

    TryGeneCards Plus

    PubMed articles for GALNT3 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with GALNT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (PubMed id 15133511)1, 2, 3, 9 Topaz O.... Sprecher E. (Nat. Genet. 2004)
    2. Prognostic significance of UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase-3 (GalNAc- T3) expression in patients with gastric carcinoma. (PubMed id 12708471)1, 2, 9 Onitsuka K.... Itoh H. (Cancer Sci. 2003)
    3. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (PubMed id 16638743)1, 2 Kato K.... Clausen H. (J. Biol. Chem. 2006)
    4. 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. (Genome Res. 2004)
    5. Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family. (PubMed id 9592121)1, 3 Bennett E.P....Clausen H. (Glycobiology 1998)
    6. 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. (J. Cell Sci. 1998)
    7. 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. (J. Biol. Chem. 1997)
    8. cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D- galactosamine polypeptide N-acetylgalactosaminyltransferase, GalNAc- T3. (PubMed id 8663203)1, 2 Bennett E.P.... Clausen H. (J. Biol. Chem. 1996)
    9. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. (PubMed id 16940445)1, 9 Ichikawa S....Econs M.J. (J. Clin. Endocrinol. Metab. 2006)
    10. Two novel GALNT3 mutations in familial tumoral calcinosis. (PubMed id 17853462)1, 9 Garringer H.J....White K.E. (Am. J. Med. Genet. A 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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

    TryGeneCards Plus
    Entrez Gene: 2591 HGNC: 4125 AceView: GALNT3 Ensembl:ENSG00000115339 euGenes: HUgn2591
    ECgene: GALNT3 Kegg: 2591 H-InvDB: GALNT3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GALNT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT3
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_485

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GALNT3 gene:
    Search GeneIP for patents involving GALNT3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for GALNT3 (Polypeptide GalNac Transferase 3/GALNT3)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for GALNT3 (Polypeptide GalNac Transferase 3/GALNT3)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for GALNT3  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GALNT3  
     OriGene qSTAR qPCR primer pairs in human, mouse for GALNT3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GALNT3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GALNT3   OriGene Custom Protein Services for GALNT3  

     
     
     Block miRNA regulation of human, mouse, rat GALNT3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GALNT3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT3 Predesigned siRNA for gene silencing in human, mouse, rat GALNT3
     QuantiFast Probe-based Assays in human, mouse, rat GALNT3 QuantiTect SYBR Green Assays in human, mouse, rat GALNT3
     PCR Arrays including human, mouse, rat GALNT3 Search Chromatin IP Primers for GALNT3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT3  GeneGlobe Interaction Network for GALNT3
     Regulatory tfbs in GALNT3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GALNT3 GenScript cDNA clones with any tag delivered in your preferred vector for GALNT3
     GenScript Custom Assay Services for GALNT3 GenScript Custom overexpressing Cell Line Services for GALNT3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GALNT3 (GALT3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for GALNT3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GALNT3 antibodies
     GALNT3 proteins
     GALNT3 lysates
     Antibodies for GALNT3
     See all of Abcam's Antibodies, Kits and Proteins for GALNT3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for GALNT3
     Antibodies for GALNT3
     ELISAs for GALNT3
     CLIAs for GALNT3



     Browse ESI BIO Cell Lines and PureStem Progenitors for GALNT3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT3
     SwitchGear 3'UTR luciferase reporter plasmids for GALNT3
     SwitchGear Promoter luciferase reporter plasmids for GALNT3
     ThermoFisher Antibody for GALNT3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT3
     Browse compounds at ApexBio
     Search Addgene for plasmids for GALNT3
      Search eBioscience for proteins for GALNT3
      Search eBioscience for elisas for GALNT3
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for GALNT3
     antibodies-online antibodies for GALNT3 (17 products)
     antibodies-online kits for GALNT3 (4 products)
     antibodies-online peptides for GALNT3
     antibodies-online proteins for GALNT3 (8 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GALNT3 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4