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GALNT11 Gene

protein-coding   GIFtS: 56
GCID: GC07P151722

:Polypeptide N-Acetylgalactosaminyltransferase 11

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
:Polypeptide N-Acetylgalactosaminyltransferase 111 2     EC 2.4.1.413 8
Polypeptide GalNAc Transferase 111 2 3     GALNACT112 5
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 11 (GalNAc-T11)1 2
     GALNAC-T112
Protein-UDP Acetylgalactosaminyltransferase 112 3     Polypeptide N-Acetylgalactosaminyltransferase 112
Pp-GaNTase 112 3     GalNAc-T113
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 112 3     

External Ids:    HGNC: 198751   Entrez Gene: 639172   Ensembl: ENSG000001782347   OMIM: 6151305   UniProtKB: Q8NCW63   
ORGUL members:         

Export aliases for GALNT11 gene to outside databases

Previous GC identifers: GC07P149969 GC07P151037 GC07P151114 GC07P151160 GC07P151353 GC07P145534


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GALNT11 Gene:
GALNT11 (:polypeptide N-acetylgalactosaminyltransferase 11) is a protein-coding gene. Diseases associated with GALNT11 include malaria. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6
Function: Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked
glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of
NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the
left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an
N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same
enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO)

Gene Wiki entry for GALNT11 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)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT11 gene promoter:
         ISGF-3   Pax-5   ATF-2   POU3F2 (N-Oct-5b)   CREB   POU2F1   deltaCREB   POU2F1a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): GALNT11 promoter sequence
   Search Chromatin IP Primers for GALNT11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT11


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

Entrez Gene cytogenetic band: 7q36.1|7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

GALNT11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P151722:  view genomic region     (about GC identifiers)

Start:
151,722,759 bp from pter      End:
151,819,427 bp from pter
Size:
96,669 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 151,049,949-151,146,598     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 11  
Size: 608 amino acids; 68919 Da
Cofactor: Manganese (By similarity)
Subunit: Interacts with NOTCH1
Sequence caution: Sequence=BAB15338.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KWF4 Q6PCD1 Q9H6C2 Q9H6Z5 Q9UDR8
Alternative splicing: 2 isoforms:  Q8NCW6-1   Q8NCW6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT11: NX_Q8NCW6

Explore proteomics data for GALNT11 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn428
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT11 (Q8NCW6) (see all 13)
     VVCPVID  RTVHSVI  MAGGLFA  PTMAGGL 


    See GALNT11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071370.2  
    ENSEMBL proteins: 
     ENSP00000395122   ENSP00000395020   ENSP00000414890   ENSP00000395078   ENSP00000393892  
     ENSP00000416787   ENSP00000410093   ENSP00000397581   ENSP00000412142   ENSP00000390247  
     ENSP00000393399   ENSP00000315835   ENSP00000389449  
    Reactome Protein details: Q8NCW6

    GALNT11 Human Recombinant Protein Products:

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

    3 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2
     IPR027791 Galactosyl_T_C

    Graphical View of Domain Structure for InterPro Entry Q8NCW6

    ProtoNet protein and cluster: Q8NCW6

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


    UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6
    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


    GALNT11 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLT11_HUMAN, Q8NCW6
    Function: Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked
    glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of
    NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the
    left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an
    N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same
    enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO)
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IDA--
    GO:0005112Notch binding IDA--
    GO:0016740transferase activity ----
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    GALNT11 for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target GALNT11:
    hsa-mir-26b-5p (MIRT029838), hsa-let-7b-5p (MIRT052104), hsa-mir-27b-3p (MIRT046225)

    Block miRNA regulation of human, mouse, rat GALNT11 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GALNT11:
    hsa-miR-3668 hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidGALNT11 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLT11_HUMAN, Q8NCW6: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016021integral component of membrane IEA--

    GALNT11 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for GALNT11 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GALNT11
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT11):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6
    Pathway: Protein modification; protein glycosylation


    GALNT11 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT11: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT11

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

    Selected Interacting proteins for GALNT11 (Q8NCW63 ENSP000003158354) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC4Q991023, ENSP000003042074I2D: score=1 STRING: ENSP00000304207
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT12ENSP000003641504STRING: ENSP00000364150
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    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0007220Notch receptor processing ISS--
    GO:0007368determination of left/right symmetry ISS--
    GO:0008593regulation of Notch signaling pathway ISS--
    GO:0016266O-glycan processing TAS--

    GALNT11 for ontologies           About GeneDecksing



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALNT11 (GLT11)

    3 HMDB Compounds for GALNT11    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Manganesemanganese 7439-96-5--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GALNT11 gene: 
    NM_022087.2  

    Unigene Cluster for GALNT11:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)
    Hs.647109  [show with all ESTs]
    Unigene Representative Sequence: AK128545
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482812 ENST00000430044(uc010lqg.1 uc011kvm.1) ENST00000431668
    ENST00000446096 ENST00000447778 ENST00000423337 ENST00000434507(uc003wku.2)
    ENST00000415421(uc003wkv.1) ENST00000419245 ENST00000447796 ENST00000491061(uc003wkw.1)
    ENST00000431940 ENST00000452146 ENST00000320311 ENST00000422997(uc011kvn.1)

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    2 qRT-PCR Assays for microRNAs that regulate GALNT11:
    hsa-miR-3668 hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidGALNT11 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GALNT11

    Additional mRNA sequence: 

    AK025287.1 AK026056.1 AK124934.1 AK128545.1 AK296097.1 AK298911.1 BC059377.1 Y12434.3 

    12 DOTS entries:

    DT.104832  DT.86838948  DT.121095673  DT.121095590  DT.100723683  DT.101982278  DT.121095657  DT.95184222 
    DT.121095642  DT.121095585  DT.100814529  DT.92428564 

    Selected AceView cDNA sequences (see all 90):

    BI915669 AI985274 BM997197 AK026056 BC059377 BQ428160 BE349504 AI655754 
    AI801727 CA946877 AW517040 AK124934 BM998376 BU180419 AA721041 CD251710 
    AA333460 AK128545 AW102975 AI272007 BX499379 CD251775 BM826814 BG108686 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALNT11 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
    SP1:                    -                 -                                   -           -                                   -               
    SP2:                                      -                                                                                                   
    SP3:                                                                                                                                          
    SP4:              -     -     -     -     -                                                                                                   
    SP5:                    -     -           -                                                                                                   


    ECgene alternative splicing isoforms for GALNT11

    (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)
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    GALNT11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCCTTTC
    GALNT11 Expression
    About this image

    GALNT11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647109

    UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6
    Tissue specificity: Highly expressed in kidney. Expressed at intermediate level in brain, heart and skeletal
    muscle. Weakly expressed other tissues. In kidney, it is strongly expressed in tubules but not expressed in
    glomeruli

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT11: 
              Glycosylation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT11

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GALNT11 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt111 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 85.31(n)1
    87.83(a)1
      5 (12.35 cM)5
    2310501  NM_144908.31  NP_659157.11 
     252228825 
    chicken
    (Gallus gallus)
    Aves GALNT111 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 77.1(n)
    79.41(a)
      420436  XM_418541.4  XP_418541.2 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT116
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    77(a)
    1 ↔ 1
    6(4229655-4256357)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44262 Xenopus laevis transcribed sequence with weak similarity more 74.76(n)    CA792380.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb9212 sbcb921 74.42(n)   378984  57074452 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pgant35A1 Polypeptide N-acetylgalactosaminyltransferase 35A 52.28(n)
    48.91(a)
      48775  NM_143812.4  NP_652069.2 
    worm
    (Caenorhabditis elegans)
    Secernentea gly-111 gly-11 51.4(n)
    48.17(a)
      176647  NM_001027777.3  NP_001022948.1 


    ENSEMBL Gene Tree for GALNT11 (if available)
    TreeFam Gene Tree for GALNT11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT11 gene
    GALNT122  GALNT12  GALNTL62  GALNT32  GALNT102  GALNT22  GALNT132  GALNT62  
    POC1B-GALNT42  GALNT152  GALNT72  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  
    Selected SIMAP similar genes for GALNT11 using alignment to 10 protein entries:     GLT11_HUMAN (see all proteins) (see all similar genes):
    GALNTL6    GALNT1    GALNT14    GALNT16    GalNAc-T16    GALNT9
    GALNT3    GALNT13    POC1B-GALNT4    GALNT2    GALNT4    GALNTL5
    GALNT6    GALNT7    GALNT15    GALNT18    GALNT19    GALNTL4

    GALNT11 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GALNT11
    PGOHUM00000259465 PGOHUM00000259466


    (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)
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    Selected SNPs for GALNT11 (see all 1987)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354409521,2
    C--151767573(+) AGCATCT/-GTTTC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs361043151,2
    C--151811005(+) AAGTG-/TTTTTT 1 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs1436428061,2
    C--155171988(+) CGCTGA/GAAAGA 1 -- us2k10--------
    rs1471813741,2
    --155172169(+) TACTAC/TCAAGG 1 -- us2k10--------
    rs1406148801,2
    --155172330(+) AACACA/GCTCCA 1 -- us2k10--------
    rs1927627141,2
    --155172402(+) GTCTTA/CAAACT 1 -- us2k10--------
    rs784463571,2
    C,F--155172419(+) CTTGAG/ATATAT 1 -- us2k11Minor allele frequency- A:0.05EA 120
    rs1847861931,2
    --155172704(+) CATGAA/GCTGCA 1 -- us2k10--------
    rs1422186101,2
    --155172758(+) ACTGCC/TCTTGC 1 -- us2k10--------
    rs69751741,2
    C,F,H--155172855(+) CCAGCA/GGCAGT 1 -- us2k19Minor allele frequency- G:0.05NS EA NA WA 1106

    HapMap Linkage Disequilibrium report for GALNT11 (151722759 - 151819427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GALNT11:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671400CNV Deletion23128226
    esv1004658CNV Deletion20482838
    esv2735443CNV Deletion23290073
    dgv7549n71CNV Gain21882294
    nsv889494CNV Gain21882294
    nsv889495CNV Gain21882294
    nsv831191CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing GALNT11:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing GALNT11
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT11

    (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.)
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    OMIM gene information: 615130    OMIM disorders: --

    UniProtKB/Swiss-Prot: GLT11_HUMAN, Q8NCW6
  • Note=Defects in GALNT11 may be a cause of heterotaxy, a congenital heart disease resulting from
    abnormalities in left-right (LR) body patterning (PubMed:21282601)

  • 1 disease for GALNT11:    About MalaCards
    malaria


    GALNT11 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: GALNT11 (1 document)

    Export disorders for GALNT11 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)
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    PubMed articles for GALNT11 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with GALNT11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional conservation of subfamilies of putative UDP-N- acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferases in Drosophila, Caenorhabditis elegans, and mammals. One subfamily composed of l(2)35Aa is essential in Drosophila. (PubMed id 11925450)1, 2, 3 Schwientek T.... Clausen H. (J. Biol. Chem. 2002)
    2. A Japanese-specific allele in the GALNT11 gene. (PubMed id 20547088)1, 2 Yuasa I....Henke J. (Leg Med (Tokyo) 2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. GALNT11 as a new molecular marker in chronic lymphocytic leukemia. (PubMed id 24076351)1 Libisch M.G....Robello C. (Gene 2014)
    7. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. (PubMed id 24226769)2 Boskovski M.T....Khokha M.K. (Nature 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. (PubMed id 21282601)2 Fakhro K.A.... Brueckner M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    10. Rescue of Drosophila Melanogaster l(2)35Aa lethality is only mediated by polypeptide GalNAc-transferase pgant35A, but not by the evolutionary conserved human ortholog GalNAc-transferase-T11. (PubMed id 20422447)1 Bennett E.P....Clausen H. (Glycoconj. J. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 63917 HGNC: 19875 AceView: GALNT11 Ensembl:ENSG00000178234 euGenes: HUgn63917
    ECgene: GALNT11 Kegg: 63917 H-InvDB: GALNT11

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GALNT11 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT11
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_494

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT11 gene:
    Search GeneIP for patents involving GALNT11

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



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