Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



POMT1 Gene

protein-coding   GIFtS: 63
GCID: GC09P134378

Protein-O-Mannosyltransferase 1

  See POMT1-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
Protein-O-Mannosyltransferase 11 2     MDDGC12 5
Dolichyl-Phosphate-Mannose-Protein Mannosyltransferase1 2     LGMD2K2
Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 12 3     RT2
EC 2.4.1.1093 8     Protein O-Mannosyl-Transferase 12
MDDGA12 5     EC 2.4.18
MDDGB12 5     

External Ids:    HGNC: 92021   Entrez Gene: 105852   Ensembl: ENSG000001307147   OMIM: 6074235   UniProtKB: Q9Y6A13   

Export aliases for POMT1 gene to outside databases

Previous GC identifers: GC09P125393 GC09P125924 GC09P127731 GC09P129655 GC09P129656 GC09P131409 GC09P133369 GC09P103872


(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 POMT1 Gene:
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the
POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum.
Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K
(LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.(provided by
RefSeq, Oct 2008)

GeneCards Summary for POMT1 Gene:
POMT1 (protein-O-mannosyltransferase 1) is a protein-coding gene. Diseases associated with POMT1 include pomt1-related muscle diseases, and walker-warburg syndrome. GO annotations related to this gene include dolichyl-phosphate-mannose-protein mannosyltransferase activity and mannosyltransferase activity. An important paralog of this gene is POMT2.

UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both
POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient

Gene Wiki entry for POMT1 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_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POMT1 gene promoter:
         GR   AhR   Pax-5   p53   GR-beta   Nkx2-5   NF-kappaB   Max   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOMT1 promoter sequence
   Search Chromatin IP Primers for POMT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMT1


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

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34.1

POMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P134378:  view genomic region     (about GC identifiers)

Start:
134,378,289 bp from pter      End:
134,399,193 bp from pter
Size:
20,905 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1 (See protein sequence)
Recommended Name: Protein O-mannosyl-transferase 1  
Size: 747 amino acids; 84881 Da
Subunit: Interacts with POMT2 (Probable)
Sequence caution: Sequence=BAA91135.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91190.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KQG0 B4DIF0 Q5JT01 Q5JT06 Q5JT08 Q8NC91 Q8TCA9 Q9NX32 Q9NX82 Q9UNT2
Alternative splicing: 4 isoforms:  Q9Y6A1-1   Q9Y6A1-2   Q9Y6A1-3   Q9Y6A1-4   

Explore the universe of human proteins at neXtProt for POMT1: NX_Q9Y6A1

Explore proteomics data for POMT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys335, Lys379, Lys459, Lys497, Lys737
  • Glycosylation2 at Asn435, Asn471, Asn539
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for POMT1 (Q9Y6A1)
     HDVAAPLS  QEVSCYIDY  RGSSHQQQVTCY 


    See POMT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001070833.1  NP_001070834.1  NP_001129585.1  NP_001129586.1  NP_009102.3  

    ENSEMBL proteins: 
     ENSP00000395060   ENSP00000343034   ENSP00000361302   ENSP00000385797   ENSP00000390737  
     ENSP00000405149   ENSP00000403736   ENSP00000402083   ENSP00000361294   ENSP00000404119  
     ENSP00000346748   ENSP00000440895   ENSP00000384531   ENSP00000403032  

    POMT1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for POMT1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for POMT1
    GenScript Custom Purified and Recombinant Proteins Services for POMT1
    Novus Biologicals POMT1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for POMT1

     
    Search eBioscience for Proteins for POMT1 

    POMT1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for POMT1
    Novus Biologicals POMT1 Antibodies
    Abcam antibodies for POMT1
    Cloud-Clone Corp. Antibodies for POMT1
    ThermoFisher Antibodies for POMT1
    LSBio Antibodies in human, mouse, rat for POMT1

    POMT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for POMT1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for POMT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for POMT1
    Cloud-Clone Corp. CLIAs for POMT1
    Search eBioscience for ELISAs for POMT1 


    (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:
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

    3 InterPro protein domains:
     IPR003342 Glyco_trans_39
     IPR027005 GlyclTrfase_39_like
     IPR016093 MIR_motif

    Graphical View of Domain Structure for InterPro Entry Q9Y6A1

    ProtoNet protein and cluster: Q9Y6A1

    2 Blocks protein domains:
    IPB003342 Glycosyl transferase
    IPB003608 MIR domain


    UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
    Similarity: Belongs to the glycosyltransferase 39 family
    Similarity: Contains 3 MIR domains


    Find genes that share domains with POMT1           About GenesLikeMe


    (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, 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: POMT1_HUMAN, Q9Y6A1
    Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both
    POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient
    Catalytic activity: Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein
    Enzyme regulation: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on
    activity in vitro

         Genatlas biochemistry entry for POMT1:
    putative O-mannosyltransferase 1,Drosophila melanogaster rotated abdomen homolog protein,ubiquitously expressed
    with highest levels in testis and fetal brain with several alternatively spliced isoforms

         Enzyme Numbers (IUBMB): EC 2.4.1.1091 2 EC 2.4.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000030mannosyltransferase activity TAS10366449
    GO:0004169dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with POMT1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pomt1):
     cardiovascular system  embryogenesis  hematopoietic system  immune system  mortality/aging 
     muscle 

    Find genes that share phenotypes with POMT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pomt1tm1Jec for POMT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POMT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POMT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POMT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POMT1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat POMT1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate POMT1
    SwitchGear 3'UTR luciferase reporter plasmidPOMT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POMT1
    Predesigned siRNA for gene silencing in human, mouse, rat POMT1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POMT1

    Clone
    Products:
         
    OriGene clones in human, mouse for POMT1 (see all 27)
    OriGene ORF clones in mouse, rat for POMT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): POMT1 (NM_007171)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POMT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMT1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for POMT1
    Browse ESI BIO Cell Lines and PureStem Progenitors for POMT1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT1


    (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
    POMT1_HUMAN, Q9Y6A1: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005783endoplasmic reticulum TAS10366449
    GO:0005789endoplasmic reticulum membrane IDA14699049
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with POMT1           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 POMT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Other types of O-glycan biosynthesis
    Other types of O-glycan biosynthesis


    Find genes that share SuperPaths with POMT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for POMT1):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Array including POMT1: 

              Glycosylation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POMT1

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

    Selected Interacting proteins for POMT1 (Q9Y6A13 ENSP000003613024) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POMT2Q9UKY43, ENSP000002615344I2D: score=1 STRING: ENSP00000261534
    UBCENSP000003448184STRING: ENSP00000344818
    ARPC3ENSP000002288254STRING: ENSP00000228825
    TMED2ENSP000002622254STRING: ENSP00000262225
    DDI1ENSP000003028054STRING: ENSP00000302805
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS10366449
    GO:0006493protein O-linked glycosylation TAS10366449
    GO:0007275multicellular organismal development TAS10366449
    GO:0030198extracellular matrix organization IEA--
    GO:0097502mannosylation TAS10366449

    Find genes that share ontologies with POMT1           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 POMT1

    5 HMDB Compounds for POMT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Dolichol phosphatedolichol-phosphate (see all 6)34457-14-2--
    Dolichyl phosphate D-mannoseDolichyl D-mannosyl phosphate (see all 4)908211-94-9--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    1 Novoseek inferred chemical compound relationship for POMT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 37 1 15522202 (1)



    Find genes that share compounds with POMT1           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 POMT1 gene (5 alternative transcripts): 
    NM_001077365.1  NM_001077366.1  NM_001136113.1  NM_001136114.1  NM_007171.3  

    Unigene Cluster for POMT1:

    Protein-O-mannosyltransferase 1
    Hs.522449  [show with all ESTs]
    Unigene Representative Sequence: AB209430
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000441334 ENST00000341012 ENST00000372228(uc011mci.1 uc004cav.3)
    ENST00000402686 ENST00000418774 ENST00000415075 ENST00000448212 ENST00000483472
    ENST00000430619 ENST00000462375 ENST00000485278 ENST00000372220 ENST00000467848
    ENST00000494883 ENST00000423007(uc004cax.3 uc004cau.3 uc004caw.3 uc011mcm.2)
    ENST00000354713 ENST00000541219 ENST00000404875(uc011mcj.2 uc011mck.2 uc011mcl.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat POMT1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate POMT1
    SwitchGear 3'UTR luciferase reporter plasmidPOMT1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for POMT1
    Predesigned siRNA for gene silencing in human, mouse, rat POMT1
    Clone
    Products:
         
    OriGene clones in human, mouse for POMT1 (see all 27)
    OriGene ORF clones in mouse, rat for POMT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): POMT1 (NM_007171)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POMT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMT1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for POMT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POMT1
      QuantiTect SYBR Green Assays in human, mouse, rat POMT1
      QuantiFast Probe-based Assays in human, mouse, rat POMT1

    Additional mRNA sequence: 

    AB209430.1 AF095136.1 AK000475.1 AK074874.1 AK074888.1 AK293529.1 AK295458.1 AK295561.1 
    AK299646.1 AK300393.1 AK300511.1 AK301486.1 AK303254.1 AK307876.1 AK315218.1 BC022877.2 
    BC065268.1 

    Selected DOTS entries (see all 25):

    DT.446531  DT.92456445  DT.100790165  DT.102830622  DT.95274459  DT.100790164  DT.121187477  DT.97789486 
    DT.97781658  DT.92456455  DT.92021625  DT.95274456  DT.100790163  DT.100028994  DT.100809890  DT.101974502 
    DT.121187546  DT.95274455  DT.121187476  DT.121187492  DT.121187576  DT.121187630  DT.121187444  DT.91942454 

    Selected AceView cDNA sequences (see all 222):

    AU279978 CK821379 BQ887444 CD671818 BU193536 BF984005 AL515260 BP380293 
    AA464150 AA300405 CA454845 BQ787250 BU171209 AI241922 N26485 BP352997 
    BE018704 BU171285 CO246360 BM707722 BM834730 AL545318 AL040643 N42494 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POMT1 (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ·
    SP1:                                            -     -           -                       -     -                 -                       -                 -   
    SP2:                                                              -                       -     -                 -                       -                 -   
    SP3:                                            -     -     -     -                       -     -                 -                       -                 -   
    SP4:                                                                                      -     -                 -                       -                     
    SP5:                                                                                                                                                            

    ExUns: 9c ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^
    SP1:  -     -                                   -     -     -                       -     -     -     -                 -                                       
    SP2:  -     -                                   -     -     -                       -     -     -     -                 -                                       
    SP3:  -     -                                   -     -     -                       -     -     -     -                 -                                       
    SP4:  -     -                                   -     -     -                       -     -     -     -                 -                                       
    SP5:                                                                                -     -     -     -                 -                                       

    ExUns: 21 ^ 22a · 22b ^ 23
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for POMT1

    (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

    POMT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTGTCTT
    POMT1 Expression
    About this image

    POMT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POMT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522449

    UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
    Tissue specificity: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in
    kidney, skeletal muscle, brain, placenta, lung and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including POMT1: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for POMT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POMT1
    QuantiTect SYBR Green Assays in human, mouse, rat POMT1
    QuantiFast Probe-based Assays in human, mouse, rat POMT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT1

    (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 animals and fungi.

    Orthologs for POMT1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pomt11 , 5 protein-O-mannosyltransferase 11, 5 83.52(n)1
    86.05(a)1
      2 (22.09 cM)5
    990111  NM_145145.11  NP_660127.11 
     322365905 
    chicken
    (Gallus gallus)
    Aves POMT11 protein-O-mannosyltransferase 1 73.94(n)
    77.07(a)
      417175  NM_001030685.1  NP_001025856.1 
    lizard
    (Anolis carolinensis)
    Reptilia POMT16
    protein-O-mannosyltransferase 1
    64(a)
    1 ↔ 1
    GL344906.1(1382-7292)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.188292 Transcribed sequence with weak similarity to protein more 73.18(n)    CF272127.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pomt11 protein-O-mannosyltransferase 1 66.06(n)
    67.46(a)
      569769  NM_001048067.2  NP_001041532.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta rt1 , 3 dolichyl-phosphate-mannose-protein
    mannosyltransferase3
    rotated abdomen1
    38(a)3
    52.76(n)1
    44.24(a)1
      3 68C133
    392971  NM_079301.31  NP_524025.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMT41 PMT4 43.06(n)
    34.14(a)
      853608   NP_012677.1 


    ENSEMBL Gene Tree for POMT1 (if available)
    TreeFam Gene Tree for POMT1 (if available)

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

    TryGeneCards Plus
    Paralogs for POMT1 gene
    POMT22  
    2 SIMAP similar genes for POMT1 using alignment to 10 protein entries:     POMT1_HUMAN (see all proteins):
    POMT2    DKFZp686G10254

    Find genes that share paralogs with POMT1           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 POMT1 (see all 775)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289417821,2,,4
    CMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4 pathogenic1134394520(+) CCTTGA/GGAGGT 9 R G mis1 int10--------
    rs1503673851,2,,4
    CMuscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)4 --134407756(+) GTCAGC/GAGGAA 10 S R mis11Minor allele frequency- G:0.00NA 2728
    VAR_0650284
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4--see VAR_0650282 R C mis40--------
    VAR_0650294
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4--see VAR_0650292 R H mis40--------
    VAR_0226614
    Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)4--see VAR_0226612 A P mis40--------
    VAR_0157354
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4--see VAR_0157352 V D mis40--------
    VAR_0650274
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)4--see VAR_0650272 G R mis40--------
    VAR_0650364
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)4--see VAR_0650362 A T mis40--------
    VAR_0650354
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)4--see VAR_0650352 Q H mis40--------
    VAR_0650314
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4--see VAR_0650312 G V mis40--------

    HapMap Linkage Disequilibrium report for POMT1 (134378289 - 134399193 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for POMT1 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739120CNV Deletion23290073
    esv2739121CNV Deletion23290073
    esv2739118CNV Deletion23290073
    esv2739119CNV Deletion23290073
    esv1751376CNV Insertion17803354
    esv1270653CNV Insertion17803354
    esv21820CNV Loss19812545
    dgv8314n71CNV Loss21882294
    nsv893991CNV Loss21882294
    dgv8313n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): POMT1
    Locus Specific Mutation Databases (LSDB): POMT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POMT1
    DNA2.0 Custom Variant and Variant Library Synthesis for POMT1

    (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: 607423   
    OMIM disorders: 236670  613155  609308  
    UniProtKB/Swiss-Prot: POMT1_HUMAN, Q9Y6A1
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An
    autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation
    and mild structural brain abnormalities. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone
    lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the
    first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe
    muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive
    degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality.
    An abnormal alpha-dystroglycan pattern in observed in the muscle. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 15 diseases for POMT1:    
    About MalaCards
    pomt1-related muscle diseases    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy , type c, 1    muscular dystrophy-dystroglycanopathy , type b, 1
    muscular dystrophy-dystroglycanopathy , type a, 1    limb-girdle muscular dystrophy type 2k    raynaud disease    muscular dystrophy-dystroglycanopathy
    muscular dystrophy-dystroglycanopathy , type b, 14    fukuyama congenital muscular dystrophy    muscular dystrophy-dystroglycanopathy , type b, 4    brain disease
    muscular dystrophy-dystroglycanopathy , type a, 14    muscular dystrophy-dystroglycanopathy , type a, 7    muscular dystrophy

    4 diseases from the University of Copenhagen DISEASES database for POMT1:
    Myopathy     Neuropathy     Lissencephaly     Intellectual disability

    Find genes that share disorders with POMT1           About GenesLikeMe

    10 Novoseek inferred disease relationships for POMT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    walker-warburg syndrome 98.3 21 16575835 (2), 15792865 (2), 12966029 (1), 15271988 (1) (see all 18)
    muscle-eye-brain disease 92.9 3 12966029 (1), 15605948 (1), 18939472 (1)
    eye abnormalities 92.8 4 12966029 (1), 15271988 (1), 16575835 (1), 15792865 (1)
    muscular dystrophies 92.6 12 15792865 (2), 15271988 (1), 15605948 (1), 18513969 (1) (see all 11)
    mdc1c 90.6 1 12966029 (1)
    fukuyama congenital muscular dystrophy 88.8 2 15605948 (1), 18646561 (1)
    muscular dystrophy limb-girdle 80.4 3 15605948 (1), 18385336 (1)
    mental retardation 57.3 5 18513969 (2), 16575835 (2), 17878207 (1)
    microcephaly 50.4 3 16575835 (2), 18513969 (1)
    hypertrophy 3.86 1 16575835 (1)

    Genetic Association Database (GAD): POMT1
    Human Genome Epidemiology (HuGE) Navigator: POMT1 (5 documents)

    Export disorders for POMT1 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 POMT1 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with POMT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. (PubMed id 10366449)1, 2, 3, 9 Perez Jurado L.A.... Cruces J. (Genomics 1999)
    2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E.... Bertini E. (Neurology 2009)
    3. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PubMed id 18513969)1, 4, 9 Messina S....Mercuri E. (Neuromuscul. Disord. 2008)
    4. Mutations in POMT1 are found in a minority of patients with Walker- Warburg syndrome. (PubMed id 15637732)1, 2, 9 Currier S.C....Walsh C.A. (Am. J. Med. Genet. A 2005)
    5. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. (PubMed id 15792865)1, 2, 9 Balci B.... Topaloglu H. (Neuromuscul. Disord. 2005)
    6. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)1, 4, 9 Godfrey C.... Muntoni F. (Brain 2007)
    7. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. (PubMed id 15037715)1, 2, 9 Kim D.-S.... Nishino I. (Neurology 2004)
    8. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (PubMed id 12369018)1, 2, 9 Beltran-Valero de Bernabe D.... Brunner H.G. (Am. J. Hum. Genet. 2002)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread. (PubMed id 18647264)1, 4 Snoei J....Majores M. (Neuropathology 2009)

    (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: 10585 HGNC: 9202 AceView: POMT1 Ensembl:ENSG00000130714 euGenes: HUgn10585
    ECgene: POMT1 Kegg: 10585 H-InvDB: POMT1

    (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 POMT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POMT1[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=POMT1

    (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 POMT1 gene:
    Search GeneIP for patents involving POMT1

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   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  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for POMT1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for POMT1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for POMT1  
     OriGene qSTAR qPCR primer pairs in human, mouse for POMT1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for POMT1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for POMT1   OriGene Custom Protein Services for POMT1  

     
     
     Block miRNA regulation of human, mouse, rat POMT1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing POMT1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMT1 Predesigned siRNA for gene silencing in human, mouse, rat POMT1
     QuantiFast Probe-based Assays in human, mouse, rat POMT1 QuantiTect SYBR Green Assays in human, mouse, rat POMT1
     PCR Arrays including human, mouse, rat POMT1 Search Chromatin IP Primers for POMT1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POMT1  GeneGlobe Interaction Network for POMT1
     Regulatory tfbs in POMT1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for POMT1 GenScript cDNA clones with any tag delivered in your preferred vector for POMT1
     GenScript Custom Assay Services for POMT1 GenScript Custom overexpressing Cell Line Services for POMT1
     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 POMT1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     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
     POMT1 antibodies
     POMT1 proteins
     Antibodies for POMT1
     See all of Abcam's Antibodies, Kits and Proteins for POMT1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for POMT1
     Antibodies for POMT1
     ELISAs for POMT1
     CLIAs for POMT1



     Browse ESI BIO Cell Lines and PureStem Progenitors for POMT1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMT1
     SwitchGear 3'UTR luciferase reporter plasmids for POMT1
     SwitchGear Promoter luciferase reporter plasmids for POMT1
     ThermoFisher Antibodies for POMT1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMT1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POMT1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POMT1
     LSBio Antibodies in human, mouse, rat for POMT1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for POMT1
      Search eBioscience for proteins for POMT1
      Search eBioscience for elisas for POMT1
      eBioscience FlowRNA Probe Sets
           
    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

    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      POMT1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4