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DPPA5 Gene

protein-coding   GIFtS: 42
GCID: GC06M074062

Developmental Pluripotency Associated 5

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(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
Developmental Pluripotency Associated 51 2     ESG-13
ESG12 3 5     Embryonal Stem Cell-Specific Gene 1 Protein3
Developmental Pluripotency-Associated 5 Protein2     hDPPA53
Embryonal Stem Cell Specific Gene 12     

External Ids:    HGNC: 192011   Entrez Gene: 3401682   Ensembl: ENSG000002039097   OMIM: 6111115   UniProtKB: A6NC423   

Export aliases for DPPA5 gene to outside databases

Previous GC identifers: GC00U909478 GC06U900763 GC06M074120 GC06M071261


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DPPA5 Gene:
This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis.
Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on
the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. (provided by RefSeq, Dec 2010)

GeneCards Summary for DPPA5 Gene:
DPPA5 (developmental pluripotency associated 5) is a protein-coding gene. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: DPPA5_HUMAN, A6NC42
Function: Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of
pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity)




(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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPPA5 gene promoter:
         Pax-6   IRF-1   HNF-4alpha2   Roaz   YY1   HNF-4alpha1   GATA-1   GATA-2   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPPA5 promoter sequence
   Search Chromatin IP Primers for DPPA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPPA5


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q13

DPPA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPPA5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M074062:  view genomic region     (about GC identifiers)

Start:
74,062,785 bp from pter      End:
74,064,018 bp from pter
Size:
1,234 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., 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.)
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UniProtKB/Swiss-Prot: DPPA5_HUMAN, A6NC42 (See protein sequence)
Recommended Name: Developmental pluripotency-associated 5 protein  
Size: 116 amino acids; 13498 Da
Developmental stage: Expressed in primordial germ (PGC), embryonic germ (EGC) and embryonic stem (ESC) cells. Not
detected in embryonic carcinoma (ECC) cells
Secondary accessions: B2RPQ7

Explore the universe of human proteins at neXtProt for DPPA5: NX_A6NC42

Explore proteomics data for DPPA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DPPA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001020461.1  
    ENSEMBL proteins: 
     ENSP00000359396  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004087 KH_dom

    Graphical View of Domain Structure for InterPro Entry A6NC42

    ProtoNet protein and cluster: A6NC42

    UniProtKB/Swiss-Prot: DPPA5_HUMAN, A6NC42
    Similarity: Belongs to the KHDC1 family
    Similarity: Contains 1 KH domain


    Find genes that share domains with DPPA5           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPPA5_HUMAN, A6NC42
    Function: Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of
    pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity)
    Induction: Down-regulated in differentiated embryonic stem (ESC) cells, compared with strong expression in
    undifferentiated ESC cells

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
         
    Find genes that share ontologies with DPPA5           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dppa5a):
     normal 

    Find genes that share phenotypes with DPPA5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dppa5atm1Yam for DPPA5

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DPPA5_HUMAN, A6NC42: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with DPPA5           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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPPA5
    Interactions:

        Search GeneGlobe Interaction Network for DPPA5

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with DPPA5           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)
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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 DPPA5



    (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 )
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    REFSEQ mRNAs for DPPA5 gene: 
    NM_001025290.2  

    Unigene Cluster for DPPA5:

    Developmental pluripotency associated 5
    Hs.125331  [show with all ESTs]
    Unigene Representative Sequence: NM_001025290
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370370(uc003pgs.2)
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    Additional mRNA sequence: 

    BC127942.1 BC137549.1 BC137558.1 

    1 DOTS entry:

    DT.105534 

    GeneLoc Exon Structure


    (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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    DPPA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGAGTGGC
    DPPA5 Expression
    About this image


    DPPA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 14 entries
             Inner Cell Mass Cells Inner Cell Mass
             hIPS1
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Secondary Oocyte Antral Follicle
             Secondary follicles
     
     Gonad (Reproductive System)    fully expand to see all 4 entries
             Primordial Germ Cells Primitive Gonad
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
    DPPA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPPA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125331
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    In Situ
    Assay Products:
     

     
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    (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 human and mouse.

    Orthologs for DPPA5 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dppa5a1 , 5 developmental pluripotency associated 5A1, 5 77.38(n)1
    66.07(a)1
      9 (43.65 cM)5
    4344231  NM_025274.31  NP_079550.21 
     783670525 


    ENSEMBL Gene Tree for DPPA5 (if available)
    TreeFam Gene Tree for DPPA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPPA5 gene
    2 SIMAP similar genes for DPPA5 using alignment to 1 protein entry:     DPPA5_HUMAN:
    KHDC3L    OOEP

    Find genes that share paralogs with DPPA5           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for DPPA5
    PGOHUM00000262042 PGOHUM00000247107 PGOHUM00000234394 PGOHUM00000241190


    (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 DPPA5 (see all 85)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1915110281,2
    --74062398(+) AAACTC/TGTCTC 1 -- ds50010--------
    rs669350501,2
    C--74062405(+) CTCCAA/-AAAAA 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs5118731,2
    C,A,H--74062416(+) AAAAAA/GAAAAG 1 -- ds50016Minor allele frequency- G:0.00NA WA CSA 11
    rs2014802581,2
    C--74062416(+) AAAAA-/GAAAAG 1 -- ds50010--------
    rs117564831,2
    C,F,H--74062512(+) TTTTCA/GGCTTA 1 -- ds500112Minor allele frequency- G:0.10NS EA NA 1078
    rs1836289481,2
    --74062706(+) TAAGGC/GTTAAG 1 -- ds50010--------
    rs1123271601,2
    F--74062718(+) TCAGGG/ACCACA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1437682051,2
    C--74062772(+) CATCAA/GCCACA 1 -- ds50010--------
    rs767707961,2
    C,F--74062790(+) ATCAAC/TTTATT 1 -- ut312Minor allele frequency- T:0.07CSA WA 120
    rs2009042921,2
    C--74063007(+) ATCTCC/TGCAAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DPPA5 (74062785 - 74064018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DPPA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830693CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPPA5
    DNA2.0 Custom Variant and Variant Library Synthesis for DPPA5

    (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.)
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    OMIM gene information: 611111    OMIM disorders: --


    Find genes that share disorders with DPPA5           About GenesLikeMe


    Export disorders for DPPA5 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 DPPA5 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with DPPA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family. (PubMed id 17913455)1, 2 Pierre A.... Monget P. (Genomics 2007)
    2. Identification of developmental pluripotency associated 5 expression in human pluripotent stem cells. (PubMed id 15790765)1, 2 Kim S.-K.... Kim K.-S. (Stem Cells 2005)
    3. Generation of induced pluripotent stem cells from human adipose-derived stem cells without c-MYC. (PubMed id 20146561)1 Aoki T....Ohgushi H. (Tissue Eng Part A 2010)
    4. Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution. (PubMed id 19129511)1 Tian X....Monget P. (Biol. Reprod. 2009)
    5. The role of promoter CpG methylation in the epigenetic control of stem cell related genes during differentiation. (PubMed id 19221495)1 Dansranjavin T....Dammann R.H. (Cell Cycle 2009)
    6. Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. (PubMed id 17967063)1 Shen L....Issa J.P. (PLoS Genet. 2007)
    7. Diverse epigenetic profile of novel human embryonic stem cell lines. (PubMed id 16479162)1 Lagarkova M.A....Kiselev S.L. (Cell Cycle 2006)
    8. Analysis of Esg1 expression in pluripotent cells and the germline reveals similarities with Oct4 and Sox2 and differences between human pluripotent cell lines. (PubMed id 16166252)1 Western P....Surani M.A. (Stem Cells 2005)
    9. Primary differentiation in the human blastocyst: comparative molecular portraits of inner cell mass and trophectoderm cells. (PubMed id 16081659)1 Adjaye J....Lehrach H. (Stem Cells 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 340168 HGNC: 19201 Ensembl:ENSG00000203909 euGenes: HUgn340168 ECgene: DPPA5
    H-InvDB: DPPA5

    (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 DPPA5 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 DPPA5 gene:
    Search GeneIP for patents involving DPPA5

    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)
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     Search Addgene for plasmids for DPPA5
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      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

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