Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PTF1A Gene

protein-coding   GIFtS: 52
GCID: GC10P023521

pancreas specific transcription factor, 1a
 Explore 10 diseases affiliated with
PTF1A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PTF1A    

Aliases
for PTF1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pancreas Specific Transcription Factor, 1a1 2     P48 DNA-Binding Subunit Of Transcription Factor PTF12 3
PTF1-P481     Class II BHLH Protein PTF1A2
BHLHa291     Exocrine Pancreas-Specific Transcription Factor P482
Class A Basic Helix-Loop-Helix Protein 292 3     Pancreas Transcription Factor 1 Subunit Alpha2
Pancreas-Specific Transcription Factor 1a2 3     BHLHA293
BHLH Transcription Factor P482 3     PTF1P483

External Ids:    HGNC: 237341   Entrez Gene: 2562972   Ensembl: ENSG000001682677   OMIM: 6071945   UniProtKB: Q7RTS33   

Export aliases for PTF1A gene to outside databases

Previous GC identifers: GC10P023212 GC10U900012 GC10P023485


Summaries
for PTF1A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PTF1A:
This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to
have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to
the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought
to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase.
Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PTF1A_HUMAN, Q7RTS3
Function: Transcriptional activator. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays an important role in
determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to
duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and
amylase. Required for the formation of pancreatic acinar and ductal cells (By similarity). Plays an important role in
cerebellar development

Gene Wiki entry for PTF1A


Genomic Views
for PTF1A 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTF1A gene promoter:
         E2F-4   E2F-3a   E2F-5   Pbx1a   E2F-2   GATA-1   HNF-4alpha1   E2F   E2F-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PTF1A promoter sequence
   Search SABiosciences Chromatin IP Primers for PTF1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTF1A


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

Entrez Gene cytogenetic band: 10p12.2   Ensembl cytogenetic band:  10p12.2   HGNC cytogenetic band: 10p12.31

PTF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTF1A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P023521:  view genomic region     (about GC identifiers)

Start:
 23,481,256 bp from pter      End:
 23,483,181 bp from pter
Size:
 1,926 bases      Orientation:
 plus strand

Proteins
for PTF1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PTF1A_HUMAN, Q7RTS3 (See protein sequence)
Recommended Name: Pancreas transcription factor 1 subunit alpha  
Size: 328 amino acids; 34970 Da
Subunit: Component of the pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and
PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and
RBPSUH/RBP-Jkappa (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Note=In chronic pancreatitis associated with
pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its
ability to form the PTF1 complex (By similarity)
Miscellaneous: An excellent marker of acinar cell differentiation in the pancreas
Secondary accessions: Q9HC25

Explore the universe of human proteins at neXtProt for PTF1A: NX_Q7RTS3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTS3

    • PTF1A Protein expression data from MOPED and PaxDb:    About this image 
    PTF1A Protein Expression
    REFSEQ proteins: NP_835455.1  
    ENSEMBL proteins: 
     ENSP00000365687  
    Reactome Protein details: Q7RTS3
    Human Recombinant Protein Products for PTF1A: 
    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: PTF1A
    OriGene Custom Protein Services for PTF1A 
    GenScript Custom Purified and Recombinant Proteins Services for PTF1A
    Novus Biologicals PTF1A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005667transcription factor complex ISS--
    GO:0005737cytoplasm ISS--

    PTF1A for ontologies           About GeneDecksing



    PTF1A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PTF1A
    R&D Systems Antibodies for PTF1A
    OriGene Antibodies: PTF1A
    OriGene Custom Antibody Services for PTF1A 
    GenScript Superior Antibodies for PTF1A
    Novus Biologicals PTF1A Antibodies
    Abcam antibodies for PTF1A 
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for PTF1A

    Assay Products for PTF1A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PTF1A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for PTF1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PTF1A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q7RTS3

    ProtoNet protein and cluster: Q7RTS3

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: PTF1A_HUMAN, Q7RTS3
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for PTF1A gene

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

         UniProtKB/Swiss-Prot Summary: PTF1A_HUMAN, Q7RTS3
    Function: Transcriptional activator. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays an important role in
    determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to
    duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and
    amylase. Required for the formation of pancreatic acinar and ductal cells (By similarity). Plays an important role in
    cerebellar development

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ISS--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    PTF1A for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Ptf1a) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  respiratory system 

    PTF1A for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Ptf1atm1Pkwe for PTF1A
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PTF1A 

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTF1A
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PTF1A (see all 12):
    hsa-miR-577 hsa-miR-448 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-138-2* hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmid: PTF1A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTF1A (see all 7)
    OriGene shRNA RFP: PTF1A
    OriGene siRNA: PTF1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTF1A
    Sirion Biotech Custom design and validation of potent shRNA sequences against PTF1A 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PTF1A
    Sirion Biotech Customized adenovirus for overexpression of PTF1A 
    Sirion Biotech Customized adenovirus for potent knockdown of PTF1A

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PTF1A (NM_178161)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTF1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTF1A 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for PTF1A
    Search LifeMap BioReagents cell lines for PTF1A
    Sirion Biotech Customized stable knockdown cell line services for PTF1A 
    Sirion Biotech Customized inducible knockdown cell line services for PTF1A
    Sirion Biotech Customized stable overexpressing cell line services for PTF1A
    Sirion Biotech Customized inducible overexpressing cell line services for PTF1A

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTF1A


    Pathways & Interactions
    for PTF1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of gene expression in early pancreatic precursor cells
    		Regulation of gene expression in early pancreatic precursor cells1.00
    2HNF1B- and FGF10-dependent synthesis of PTF1A protein
    		HNF1B- and FGF10-dependent synthesis of PTF1A protein1.00
    3Regulation of beta-cell development
    		Regulation of beta-cell development1.00
    4Notch-mediated HES/HEY network
    		Notch-mediated HES/HEY network1.00
    5Axon guidance
    		Developmental Biology0.69

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PTF1A 
        Notch-mediated HES/HEY network

    4        Reactome Pathways for PTF1A
        Developmental Biology
    HNF1B- and FGF10-dependent synthesis of PTF1A protein
    Regulation of beta-cell development
    Regulation of gene expression in early pancreatic precursor cells



    PTF1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PTF1A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for PTF1A (Q7RTS33 ENSP000003656874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCF12Q990813, ENSP000003310574I2D: score=1 STRING: ENSP00000331057
    FGF10ENSP000002646644STRING: ENSP00000264664
    RBPJENSP000003452064STRING: ENSP00000345206
    RBPJLENSP000003412434STRING: ENSP00000341243
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0009790embryo development IEA--
    GO:0009888tissue development IDA12185368
    GO:0030154cell differentiation ----

    PTF1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for PTF1A gene

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

    Browse Tocris compounds for PTF1A
    Search CenterWatch for drugs/clinical trials and news about PTF1A 

    Transcripts
    for PTF1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PTF1A gene: 
    NM_178161.2  

    Unigene Cluster for PTF1A:

    Pancreas specific transcription factor, 1a
    Hs.351503  [show with all ESTs]
    Unigene Representative Sequence: NM_178161
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000376504(uc001irp.3)

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTF1A
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PTF1A (see all 12):
    hsa-miR-577 hsa-miR-448 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-138-2* hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmid: PTF1A 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTF1A (see all 7)
    OriGene shRNA RFP: PTF1A
    OriGene siRNA: PTF1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTF1A
    Sirion Biotech Custom design and validation of potent shRNA sequences against PTF1A 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PTF1A (NM_178161)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTF1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTF1A 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTF1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PTF1A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTF1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTF1A

    Additional cDNA sequence: AF181999.1 

    1 DOTS entry:

    DT.95328334 

    5 AceView cDNA sequences:

    NM_178161 CK904917 BM055347 CK904916 BM055064 

    GeneLoc Exon Structure


    Expression
    for PTF1A gene

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

    PTF1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATATCTA
    PTF1A Expression
    About this image

    PTF1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeGanglion Cell LayerHorizontal Precursor CellsHorizontal, Retina
    EyeInner Nuclear LayerEarly Amacrine Precursor CellsAmacrine, Retina
    EyeInner Nuclear LayerLate Amacrine Precursor CellsAmacrine, Retina
    PancreasDorsal Pancreatic BudExocrine Progenitor CellsPancreas
    PancreasDorsal Pancreatic BudPancreatic Progenitor CellsPancreas
    PancreasPancreatic AciniAcinar CellsPancreas
    PancreasPrepancreatic Dorsal Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    PancreasVentral Pancreatic BudExocrine Progenitor CellsPancreas
    PancreasVentral Pancreatic BudPancreatic Progenitor CellsPancreas
    EyeNeuroblastic LayerEarly Amacrine Horizontal Precursor CellsAmacrine, Horizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Indolactam V-induced cells (Derivation of pancre...)
    Endocrine progenitors (Generation of pancre...)
    Posterior foregut (Generation of pancre...)
    Optic cup structures (Generation of strati...)
    Pancreatic endocrine/exocrine-like cells (Serum-free protocol ...)

    See PTF1A Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.351503

    UniProtKB/Swiss-Prot: PTF1A_HUMAN, Q7RTS3
    Tissue specificity: Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers

        SABiosciences Expression via Pathway-Focused PCR Array including PTF1A: 
              Embryonic Stem Cells in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTF1A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PTF1A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTF1A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTF1A
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTF1A

    Orthologs
    for PTF1A gene

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

    Orthologs for PTF1A gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia PTF1A6
    		 --
    		 67(a)
    		 1 ↔ 1
    		 6(15957012-15960198)
    African clawed frog
    (Xenopus laevis)    		 Amphibia ptf1a2 pancreas-specific transcription factor 1a 82.38(n)    AY372268.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii ptf1a1 pancreas specific transcription factor, 1a 65.62(n)
    72.27(a)    		   368662  NM_207641.2  NP_997524.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Fer16
    		 48 related 1
    		 30(a)
    		 1 ↔ 1
    		 3R(2961930-2967694)


    ENSEMBL Gene Tree for PTF1A (if available)
    TreeFam Gene Tree for PTF1A (if available) 

    Paralogs
    for PTF1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTF1A gene
    NEUROG32  FERD3L2  NEUROD22  NEUROD12  NEUROD62  ATOH12  NEUROG22  BHLHA152  
    ATOH72  NEUROG12  NEUROD42  
    5 SIMAP similar genes for PTF1A using alignment to 1 protein entry:     PTF1A_HUMAN:
    FERD3L    NHLH2    TWIST2    TAL2    NHLH1

    PTF1A for paralogs           About GeneDecksing



    Genomic Variants
    for PTF1A gene

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

    10/71 NCBI SNPs in PTF1A are shown (see all 71)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048941861,2
    		Cpathogenic23482734(+) TTATCC/TGAACA 2 R * stg10--------
    rs802119671,2
    		F--23479622(+) TTGCCT/CTTAAG 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1882333311,2
    		--23479646(+) TGAACC/GACTCC 1 -- us2k10--------
    rs1429777571,2
    		--23479721(+) TAAAAC/TTGTTT 1 -- us2k10--------
    rs1929758611,2
    		--23480217(+) TTCAGG/TGATGG 1 -- us2k10--------
    rs124151841,2
    		C,F,H--23480318(+) CGCCGA/GAGCAG 1 -- us2k122Minor allele frequency- G:0.35NS EA NA CSA WA 2344
    rs1511056981,2
    		--23480555(+) GTGCGC/TTCCCA 1 -- us2k10--------
    rs601197521,2
    		C--23480570(+) CCGTGT/CTGCGT 1 -- us2k12Minor allele frequency- C:0.19WA 120
    rs1401091501,2
    		--23480601(+) GCCCGA/GATCAC 1 -- us2k10--------
    rs1140070031,2
    		F--23480828(+) CGTCTG/AGGCCA 1 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for PTF1A (23481256 - 23483181 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PTF1A: --
    Human Gene Mutation Database (HGMD): PTF1A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTF1A
    DNA2.0 Custom Variant and Variant Library Synthesis for PTF1A

    Disorders / Diseases
    for PTF1A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PTF1A for disorders           About GeneDecksing

    OMIM gene information: 607194   
    OMIM disorders: 609069  
    UniProtKB/Swiss-Prot: PTF1A_HUMAN, Q7RTS3
  • Defects in PTF1A are the cause of pancreatic and cerebellar agenesis (PACA) [MIM:609069]. A disease
    • characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth
    retardation, the presence of very little subcutaneous fat, and dysmorphic facial features

    10 diseases for PTF1A:    About MalaCards
    cerebellar agenesis    diabetes mellitus, permanent neonatal, with cerebellar agenesis    duodenitis    pancreatitis
    hepatoerythropoietic porphyria    diabetes mellitus    neonatal diabetes mellitus    cerebellar hypoplasia
    porphyria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for PTF1A:
    Hepatoerythropoietic porphyria

    Export disorders for PTF1A gene to outside databases

    Publications
    for PTF1A gene

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

    PubMed articles for PTF1A gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with PTF1A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in PTF1A cause pancreatic and cerebellar agenesis. (PubMed id 15543146)1, 2 Sellick G.S.... Houlston R.S. (2004)
    2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    3. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 12617822)1, 2 McLellan A.S.... Kealey T. (2002)
    4. Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells. (PubMed id 10768861)1, 2 Adell T.... Real F.X. (2000)
    5. Constitutive expression of the gene for the cell-specific p48 DNA-binding subunit of pancreas transcription factor 1 in cultured cells is under control of binding sites for transcription factors Sp1 and alphaCbf. (PubMed id 8703005)1, 3 Knofler M....Wellauer P.K. (1996)
    6. p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation. (PubMed id 18834332)1, 9 Rodolosse A....Real F.X. (2009)
    7. Genetic lineage tracing, a powerful tool to investiga te the embryonic organogenesis and adult organ maintenance of the pancreas. (PubMed id 20668890)1 Kawaguchi Y....Uemoto S. (2011)
    8. A Turkish newborn infant with cerebellar agenesis/neo natal diabetes mellitus and PTF1A mutation. (PubMed id 19650412)1 Tutak E....Bayram Y. (2009)
    9. Multiple transcriptional mechanisms control Ptf1a lev els during neural development including autoregulation by the PTF1-J complex. (PubMed id 19741120)1 Meredith D.M....Johnson J.E. (2009)
    10. Origin of climbing fiber neurons and their developmental dependence on Ptf1a. (PubMed id 17928434)1 Yamada M....Hoshino M. (2007)

    External Searches for PTF1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PTF1A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 256297 HGNC: 23734 AceView: PTF1A Ensembl:ENSG00000168267 euGenes: HUgn256297
    ECgene: PTF1A H-InvDB: PTF1A

    Other Databases showing PTF1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PTF1A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTF1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTF1A

    Intellectual Property
    for PTF1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PTF1A gene:
    Search GeneIP for patents involving PTF1A

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



    Products
    for PTF1A gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of PTF1A
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for PTF1A (PTF1A)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for PTF1A   OriGene shRNA RFP for PTF1A  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTF1A   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTF1A  
     OriGene Protein Over-expression Lysate for PTF1A   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PTF1A   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTF1A  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PTF1A   OriGene Custom Protein Services for PTF1A  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PTF1A
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTF1A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTF1A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTF1A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTF1A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTF1A
     GenScript Custom Purified and Recombinant Proteins Services for PTF1A GenScript cDNA clones with any tag delivered in your preferred vector for PTF1A
     GenScript Custom Assay Services for PTF1A GenScript Superior Antibodies for PTF1A
     GenScript Custom overexpressing Cell Line Services for PTF1A 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

     Regulatory tfbs in PTF1A promoter
     Search Chromatin IP Primers for PTF1A
     RT2 qPCR Primer Assay in human, mouse, rat PTF1A
     Search GNC Networks for PTF1A
     SABiosciences PCR Arrays including human, mouse, rat PTF1A
     Search Tocris compounds for PTF1A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PTF1A antibodies
     PTF1A lysates
     Antibodies for PTF1A
     See all of Abcam's Antibodies, Kits and Proteins for PTF1A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for PTF1A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTF1A
     SwitchGear 3'UTR luciferase reporter plasmids for PTF1A
     SwitchGear Promoter luciferase reporter plasmids for PTF1A
     ThermoFisher Antibodies for PTF1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTF1A
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PTF1A
    Sirion Biotech Customized:
     stable knockdown cell line services for PTF1A
     inducible knockdown cell line services for PTF1A
     design and validation of potent shRNA sequences against PTF1A
     adenovirus for potent knockdown of PTF1A
     adenovirus for overexpression of PTF1A
     stable overexpressing cell line services for PTF1A
     inducible overexpressing cell line services for PTF1A
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      PTF1A gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4