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PTPLAD1 Gene

protein-coding   GIFtS: 54
GCID: GC15P065822

Protein Tyrosine Phosphatase-Like A Domain Containing 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Tyrosine Phosphatase-Like A Domain Containing 11 2     B-IND12
Butyrate-Induced Protein 12 3     HSPC1212
Protein Tyrosine Phosphatase-Like Protein PTPLAD12 3     Butyrate-Induced Transcript 12
Protein-Tyrosine Phosphatase-Like A Domain-Containing Protein 12 3     Very-Long-Chain (3R)-3-Hydroxyacyl-[Acyl-Carrier Protein] Dehydratase 32
3-Hydroxyacyl-CoA Dehydratase 32 3     B-ind13
HACD32 3     BIND13
hB-ind12 3     EC 4.2.1.1343

External Ids:    HGNC: 241751   Entrez Gene: 514952   Ensembl: ENSG000000746967   UniProtKB: Q9P0353   

Export aliases for PTPLAD1 gene to outside databases

Previous GC identifers: GC15P063610 GC15P042647


(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 PTPLAD1 Gene:
PTPLAD1 (protein tyrosine phosphatase-like A domain containing 1) is a protein-coding gene. Diseases associated with PTPLAD1 include hepatitis c virus, and hepatitis c. GO annotations related to this gene include lyase activity and GTPase activator activity. An important paralog of this gene is PTPLA.

UniProtKB/Swiss-Prot: HACD3_HUMAN, Q9P035
Function: Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. Involved in
Rac1-signaling pathways leading to the modulation of gene expression

Gene Wiki entry for PTPLAD1 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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPLAD1 gene promoter:
         USF1   AML1a   USF-1   FOXO1a   AP-4   HNF-3beta   E47   GATA-1   GATA-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPLAD1 promoter sequence
   Search Chromatin IP Primers for PTPLAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTPLAD1


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

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.2

PTPLAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPLAD1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P065822:  view genomic region     (about GC identifiers)

Start:
65,822,756 bp from pter      End:
65,870,693 bp from pter
Size:
47,938 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, 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: HACD3_HUMAN, Q9P035 (See protein sequence)
Recommended Name: Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 3  
Size: 362 amino acids; 43160 Da
Subunit: Interacts with the condensation enzymes of the ELOVL family. Interacts with RAC1
Sequence caution: Sequence=AAF29085.1; Type=Frameshift; Positions=356; Sequence=BAC11249.1; Type=Frameshift;
Positions=359;
Secondary accessions: A0PJA1 Q280Z3 Q6PD63 Q8IUI5 Q8NC86 Q8NCB1 Q96T12 Q9NQA7

Explore the universe of human proteins at neXtProt for PTPLAD1: NX_Q9P035

Explore proteomics data for PTPLAD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys98
  • Modification sites at PhosphoSitePlus

  • See PTPLAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057479.2  
    ENSEMBL proteins: 
     ENSP00000455686   ENSP00000261875   ENSP00000392491   ENSP00000456568   ENSP00000455530  
     ENSP00000456300   ENSP00000455587   ENSP00000454873   ENSP00000454610  

    PTPLAD1 Human Recombinant Protein Products:

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    Novus Biologicals PTPLAD1 Proteins
    Novus Biologicals PTPLAD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTPLAD1

    PTPLAD1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for PTPLAD1

    PTPLAD1 Assay Products:

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    Cloud-Clone Corp. CLIAs for PTPLAD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR007482 Tyr_Pase-like_PTPLA
     IPR008978 HSP20-like_chaperone
     IPR007052 CS_dom

    Graphical View of Domain Structure for InterPro Entry Q9P035

    ProtoNet protein and cluster: Q9P035

    UniProtKB/Swiss-Prot: HACD3_HUMAN, Q9P035
    Similarity: Belongs to the very long-chain fatty acids dehydratase HACD family
    Similarity: Contains 1 CS domain


    PTPLAD1 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: HACD3_HUMAN, Q9P035
    Function: Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. Involved in
    Rac1-signaling pathways leading to the modulation of gene expression
    Catalytic activity: A very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] = a very-long-chain
    trans-2,3-dehydroacyl-[acyl-carrier protein] + H(2)O
    Induction: By AKAP12 and histone deacetylase inhibitors such as sodium butyrate

         Enzyme Number (IUBMB): EC 4.2.1.1341

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity TAS10747961
    GO:0005515protein binding IPI18160438
    GO:0016829lyase activity IEA--
         
    PTPLAD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ptplad1 (no phenotypes)

    PTPLAD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ptplad1tm1Lex for PTPLAD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPLAD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPLAD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPLAD1

    miRNA
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    miRTarBase miRNAs that target PTPLAD1:
    hsa-mir-1 (MIRT001342), hsa-mir-20a-3p (MIRT038974), hsa-mir-181a-5p (MIRT025056), hsa-mir-24-3p (MIRT030451), hsa-mir-100-5p (MIRT048549), hsa-mir-615-3p (MIRT039984), hsa-mir-193b-3p (MIRT016417), hsa-mir-215-5p (MIRT024698), hsa-mir-192-5p (MIRT026332), hsa-mir-128-3p (MIRT021942), hsa-mir-132-3p (MIRT021751)

    Block miRNA regulation of human, mouse, rat PTPLAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPLAD1 (see all 41):
    hsa-miR-4307 hsa-miR-371-5p hsa-miR-508-3p hsa-miR-890 hsa-miR-4330 hsa-miR-34b hsa-miR-509-3-5p hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidPTPLAD1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PTPLAD1
    Predesigned siRNA for gene silencing in human, mouse, rat PTPLAD1

    Gene Editing
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    OriGene clones in human, mouse for PTPLAD1 (see all 6)
    OriGene ORF clones in mouse, rat for PTPLAD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PTPLAD1 (NM_016395)
    Sino Biological Human cDNA Clone for PTPLAD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTPLAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPLAD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPLAD1


    (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
    HACD3_HUMAN, Q9P035: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    plasma membrane2
    mitochondrion1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    PTPLAD1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PTPLAD1
    Interactions:

        Search GeneGlobe Interaction Network for PTPLAD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for PTPLAD1 (Q9P0352, 3 ENSP000002618754) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49381 I2D: score=2 
    C20orf24Q9BUV83, ENSP000003412134I2D: score=2 STRING: ENSP00000341213
    NEK6Q9HC983, ENSP000003627024I2D: score=2 STRING: ENSP00000362702
    PELOQ9BRX23, ENSP000002743114I2D: score=2 STRING: ENSP00000274311
    SERINC3Q135303, ENSP000002551754I2D: score=2 STRING: ENSP00000255175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0007249I-kappaB kinase/NF-kappaB signaling IEA--
    GO:0007254JNK cascade ----
    GO:0007257activation of JUN kinase activity TAS10747961
    GO:0007264small GTPase mediated signal transduction TAS10747961

    PTPLAD1 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 PTPLAD1 (HACD3)

    1 HMDB Compound for PTPLAD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--



    (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 PTPLAD1 gene: 
    NM_016395.2  

    Unigene Cluster for PTPLAD1:

    Protein tyrosine phosphatase-like A domain containing 1
    Hs.512973  [show with all ESTs]
    Unigene Representative Sequence: AK074898
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562901 ENST00000261875(uc002apc.3 uc010uiw.2) ENST00000442729
    ENST00000565299 ENST00000568793 ENST00000566239 ENST00000566074 ENST00000566511
    ENST00000569894 ENST00000562832 ENST00000561763
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PTPLAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPLAD1 (see all 41):
    hsa-miR-4307 hsa-miR-371-5p hsa-miR-508-3p hsa-miR-890 hsa-miR-4330 hsa-miR-34b hsa-miR-509-3-5p hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidPTPLAD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PTPLAD1
    Predesigned siRNA for gene silencing in human, mouse, rat PTPLAD1
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    OriGene clones in human, mouse for PTPLAD1 (see all 6)
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    GenScript: all cDNA clones in your preferred vector: PTPLAD1 (NM_016395)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPLAD1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PTPLAD1
      QuantiFast Probe-based Assays in human, mouse, rat PTPLAD1

    Additional mRNA sequence: 

    AF161470.1 AJ271091.1 AK027421.1 AK074857.1 AK074898.1 AK225120.1 AK299234.1 AL137412.1 
    BC000194.1 BC009056.1 BC011443.1 BC019873.1 BC035508.1 BC047685.1 BC058912.1 

    20 DOTS entries:

    DT.100660924  DT.100730204  DT.85101739  DT.121039479  DT.121039503  DT.121039384  DT.100660927  DT.100660921 
    DT.100660929  DT.121039454  DT.95083722  DT.100660920  DT.121039431  DT.121039490  DT.92072276  DT.92072286 
    DT.99989277  DT.100637847  DT.121039508  DT.95178571 

    Selected AceView cDNA sequences (see all 498):

    AA884748 AA937287 CB158158 BC058912 BM985100 BG390284 BM983125 BM789178 
    BM915655 AA494356 BM479378 AA609769 BC047685 BC019873 AW305068 AI125439 
    BF968596 BG166768 BM786590 BF446149 BM450668 CB122670 BM719201 BU856613 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PTPLAD1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for PTPLAD1

    (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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    PTPLAD1 expression in normal human tissues (normalized intensities)      PTPLAD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTAACAC
    PTPLAD1 Expression
    About this image


    PTPLAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
    PTPLAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPLAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512973

    UniProtKB/Swiss-Prot: HACD3_HUMAN, Q9P035
    Tissue specificity: Highly expressed in testis, kidney, brain, liver and weakly in skeletal muscle, spleen and
    heart. No expression detected in leukocytes

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    QuantiFast Probe-based Assays in human, mouse, rat PTPLAD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPLAD1

    (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 and fungi.

    Orthologs for PTPLAD1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptplad11 , 5 protein tyrosine phosphatase-like A domain containing more1, 5 88.12(n)1
    91.16(a)1
      9 (35.03 cM)5
    578741  NM_021345.21  NP_067320.21 
     649869855 
    chicken
    (Gallus gallus)
    Aves PTPLAD11 protein tyrosine phosphatase-like A domain containing more 71.38(n)
    68.98(a)
      415539  NM_001007828.1  NP_001007829.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPLAD16
    protein tyrosine phosphatase-like A domain contain...
    71(a)
    1 ↔ 1
    GL343503.1(245235-269828)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.6972 Transcribed sequence with weak similarity to protein more 79.55(n)    CF239814.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636322 hypothetical protein MGC63632 75.7(n)   393441  BC055174.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92671 CG9267 46.87(n)
    36.36(a)
      34762  NM_135811.3  NP_609655.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SBA1(YKL117W)4 Co-chaperone that binds to and regulates Hsp90 family more   --   11(220324-220974) 853743  NP_012805.1 


    ENSEMBL Gene Tree for PTPLAD1 (if available)
    TreeFam Gene Tree for PTPLAD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPLAD1 gene
    PTPLA2  PTPLAD22  PTPLB2  
    8 SIMAP similar genes for PTPLAD1 using alignment to 6 protein entries:     HACD3_HUMAN (see all proteins):
    PFKFB3    TUBA1C    ZNF114    ATF1    RQCD1    IRF2
    PTPLAD2    PTPLB

    PTPLAD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PTPLAD1
    PGOHUM00000262252


    (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 PTPLAD1 (see all 950)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4223901,2
    C,F,A,H--45880175(-) CGCTCC/GCGGGC 1 -- ut51 ese314Minor allele frequency- G:0.12MN NS EA WA NA CSA 961
    rs71644891,2
    C,F,H--65820830(+) TTACTA/CATCTC 1 -- int1 tfbs311Minor allele frequency- C:0.10NS EA NA WA 1308
    rs1154318551,2
    F--65821333(+) TCCACG/AGCCTA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1896159011,2
    --65821454(+) AAACTC/GTTTGT 1 -- int10--------
    rs1921544761,2
    --65821457(+) CTCTTC/TGTGAG 1 -- int10--------
    rs1436226431,2
    --65821515(+) CTCTTA/GAGCTA 1 -- int10--------
    rs778050131,2
    C,F--65821824(+) TAGAAG/TAGCCA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1849973291,2
    --65821879(+) TGGCCA/GGGCGC 1 -- int10--------
    rs1407490921,2
    C--65821925(+) GCCAAA/GGCGGG 1 -- int10--------
    rs1902845741,2
    C--65822137(+) AAGAGA/CGAAAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for PTPLAD1 (65822756 - 65870693 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTPLAD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904314CNV Loss21882294
    dgv2400n71CNV Loss21882294
    nsv833042CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTPLAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPLAD1

    (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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    6 diseases for PTPLAD1:    About MalaCards
    hepatitis c virus    hepatitis c    cystic fibrosis    hepatitis
    neuroblastoma    breast cancer


    PTPLAD1 for disorders           About GeneDecksing


    Export disorders for PTPLAD1 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 PTPLAD1 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with PTPLAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. B-ind1, a novel mediator of Rac1 signaling cloned from sodium butyrate-treated fibroblasts. (PubMed id 10747961)1, 2, 3, 9 Courilleau D.... Mester J. (J. Biol. Chem. 2000)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    3. Human B-ind1 gene promoter: cloning and regulation by histone deacetylase inhibitors. (PubMed id 16516406)1, 2 Sabbah M.... Redeuilh G. (Gene 2006)
    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. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 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. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    10. Seventy-five genetic loci influencing the human red blood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (Nature 2012)

    (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: 51495 HGNC: 24175 AceView: HSPC121 Ensembl:ENSG00000074696 euGenes: HUgn51495
    ECgene: PTPLAD1 H-InvDB: PTPLAD1

    (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 PTPLAD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PTPLAD1 gene:
    Search GeneIP for patents involving PTPLAD1

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



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