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

DPPA5 Gene

protein-coding   GIFtS: 42
GCID: GC06M074062

Developmental Pluripotency Associated 5

  Search for DPPA5
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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007299.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DPPA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DPPA5_HUMAN, A6NC42 (See protein sequence)
Recommended Name: Developmental pluripotency-associated 5 protein  
Size: 116 amino acids; 13498 Da
Subcellular location: Cytoplasm (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NC42

  • DPPA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DPPA5 Protein Expression
    REFSEQ proteins: NP_001020461.1  
    ENSEMBL proteins: 
     ENSP00000359396  

    Human Recombinant Protein Products for DPPA5: 
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    Cloud-Clone Corp. Proteins for DPPA5 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    DPPA5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    DPPA5 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
         
    DPPA5 for ontologies           About GeneDecksing


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

    DPPA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dppa5atm1Yam for DPPA5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DPPA5 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DPPA5

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    DPPA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 DPPA5

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    miRNA
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    Inhib. RNA
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    Sirion Biotech Customized lentivirus for stable overexpression of DPPA5 
                         Customized lentivirus expression plasmids for stable overexpression of DPPA5 
    Primer
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    OriGene qPCR primer pairs and template standards for DPPA5
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DPPA5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DPPA5

    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™, 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

    DPPA5 expression in normal human tissues (normalized intensities)      DPPA5 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 13 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
             Primordial Germ Cells Primitive Gonad
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme

    See DPPA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DPPA5

    SOURCE GeneReport for Unigene cluster: Hs.125331
        SABiosciences Custom PCR Arrays for DPPA5
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPPA5

    (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 human and mouse.

    Orthologs for DPPA5 gene from 1/4 species (see all 4)    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)
    About This Section
    Paralogs for DPPA5 gene
    2 SIMAP similar genes for DPPA5 using alignment to 1 protein entry:     DPPA5_HUMAN:
    KHDC3L    OOEP

    DPPA5 for paralogs           About GeneDecksing


    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) 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

    10/85 SNPs in DPPA5 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    DPPA5 for disorders           About MalaCards
    OMIM gene information: 611111    OMIM disorders: --


    DPPA5 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for DPPA5 gene, integrated from 9 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. (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. (2005)
    3. Generation of induced pluripotent stem cells from hum an adipose-derived stem cells without c-MYC. (PubMed id 20146561)1 Aoki T....Ohgushi H. (2010)
    4. Gene birth, death, and divergence: the different scen arios of reproduction-related gene evolution. (PubMed id 19129511)1 Tian X....Monget P. (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. (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. (2007)
    7. Diverse epigenetic profile of novel human embryonic s tem cell lines. (PubMed id 16479162)1 Lagarkova M.A....Kiselev S.L. (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. (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. (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. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 340168 HGNC: 19201 Ensembl:ENSG00000203909 euGenes: HUgn340168 ECgene: DPPA5
    H-InvDB: DPPA5

    (According to HUGE)
    About This Section
      --

    (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 DPPA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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, genOway)
    About This Section

     
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     Proteins for DPPA5
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


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