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Q6W0C5

- DPPA3_HUMAN

UniProt

Q6W0C5 - DPPA3_HUMAN

Protein

Developmental pluripotency-associated protein 3

Gene

DPPA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis By similarity.By similarity

    GO - Molecular functioni

    1. methylated histone binding Source: UniProtKB

    GO - Biological processi

    1. chromatin modification Source: UniProtKB-KW
    2. embryonic cleavage Source: Ensembl
    3. negative regulation of DNA demethylation Source: UniProtKB
    4. protection of DNA demethylation of female pronucleus Source: UniProtKB
    5. regulation of genetic imprinting Source: UniProtKB

    Keywords - Molecular functioni

    Chromatin regulator, Developmental protein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Developmental pluripotency-associated protein 3
    Alternative name(s):
    Stella-related protein
    Gene namesi
    Name:DPPA3
    Synonyms:STELLAR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:19199. DPPA3.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: Mainly localizes in the female pronucleus, localization to the male pronucleus in much weaker.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. female pronucleus Source: UniProtKB
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134951641.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 159159Developmental pluripotency-associated protein 3PRO_0000239265Add
    BLAST

    Proteomic databases

    PaxDbiQ6W0C5.
    PRIDEiQ6W0C5.

    PTM databases

    PhosphoSiteiQ6W0C5.

    Expressioni

    Tissue specificityi

    Low expression in testis, ovary and thymus. Expressed in embryonic stem and carcinoma cells. Highly expressed in testicular germ cell tumors.3 Publications

    Developmental stagei

    Expressed in fetal ovary.1 Publication

    Gene expression databases

    BgeeiQ6W0C5.
    CleanExiHS_DPPA3.
    GenevestigatoriQ6W0C5.

    Organism-specific databases

    HPAiHPA045695.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000339250.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6W0C5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domaini

    Mediates binding to H3K9me2 via N-terminal region, while ability to exclude TET3 from the maternal pronucleus requires the C-terminal part.By similarity

    Phylogenomic databases

    eggNOGiNOG43204.
    HOGENOMiHOG000293369.
    HOVERGENiHBG094422.
    InParanoidiQ6W0C5.
    OMAiIPESSQM.
    OrthoDBiEOG7J448M.
    PhylomeDBiQ6W0C5.
    TreeFamiTF338511.

    Family and domain databases

    InterProiIPR029096. Dppa3.
    [Graphical view]
    PANTHERiPTHR31577. PTHR31577. 1 hit.
    PfamiPF15549. PGC7_Stella. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6W0C5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDPSQFNPTY IPGSPQMLTE ENSRDDSGAS QISSETLIKN LSNLTINASS    50
    ESVSPLSEAL LRRESVGAAV LREIEDEWLY SRRGVRTLLS VQREKMARLR 100
    YMLLGGVRTH ERRPTNKEPK GVKKESRPFK CPCSFCVSNG WDPSENARIG 150
    NQDTKPLQP 159
    Length:159
    Mass (Da):17,851
    Last modified:July 5, 2004 - v1
    Checksum:i0ADDE3C260BF544A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti57 – 571S → L in AAO39708. (PubMed:14990856)Curated
    Sequence conflicti57 – 571S → L in AAH62480. (PubMed:15489334)Curated
    Sequence conflicti57 – 571S → L in AAI25146. (PubMed:15489334)Curated
    Sequence conflicti150 – 1501G → E in AAO39708. (PubMed:14990856)Curated
    Sequence conflicti150 – 1501G → E in AAH62480. (PubMed:15489334)Curated
    Sequence conflicti150 – 1501G → E in AAI25146. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511E → Q.
    Corresponds to variant rs2024320 [ dbSNP | Ensembl ].
    VAR_030533

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY317075 mRNA. Translation: AAQ84110.1.
    AY230136 mRNA. Translation: AAO39708.1.
    BC062480 mRNA. Translation: AAH62480.1.
    BC125145 mRNA. Translation: AAI25146.1.
    CCDSiCCDS8582.1.
    RefSeqiNP_954980.1. NM_199286.2.
    UniGeneiHs.131358.
    Hs.528118.

    Genome annotation databases

    EnsembliENST00000345088; ENSP00000339250; ENSG00000187569.
    GeneIDi359787.
    KEGGihsa:359787.
    UCSCiuc001qtf.3. human.

    Polymorphism databases

    DMDMi74749483.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY317075 mRNA. Translation: AAQ84110.1 .
    AY230136 mRNA. Translation: AAO39708.1 .
    BC062480 mRNA. Translation: AAH62480.1 .
    BC125145 mRNA. Translation: AAI25146.1 .
    CCDSi CCDS8582.1.
    RefSeqi NP_954980.1. NM_199286.2.
    UniGenei Hs.131358.
    Hs.528118.

    3D structure databases

    ProteinModelPortali Q6W0C5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000339250.

    PTM databases

    PhosphoSitei Q6W0C5.

    Polymorphism databases

    DMDMi 74749483.

    Proteomic databases

    PaxDbi Q6W0C5.
    PRIDEi Q6W0C5.

    Protocols and materials databases

    DNASUi 359787.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000345088 ; ENSP00000339250 ; ENSG00000187569 .
    GeneIDi 359787.
    KEGGi hsa:359787.
    UCSCi uc001qtf.3. human.

    Organism-specific databases

    CTDi 359787.
    GeneCardsi GC12P007864.
    H-InvDB HIX0037699.
    HGNCi HGNC:19199. DPPA3.
    HPAi HPA045695.
    MIMi 608408. gene.
    neXtProti NX_Q6W0C5.
    PharmGKBi PA134951641.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43204.
    HOGENOMi HOG000293369.
    HOVERGENi HBG094422.
    InParanoidi Q6W0C5.
    OMAi IPESSQM.
    OrthoDBi EOG7J448M.
    PhylomeDBi Q6W0C5.
    TreeFami TF338511.

    Miscellaneous databases

    GeneWikii DPPA3.
    GenomeRNAii 359787.
    NextBioi 99921.
    PROi Q6W0C5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6W0C5.
    CleanExi HS_DPPA3.
    Genevestigatori Q6W0C5.

    Family and domain databases

    InterProi IPR029096. Dppa3.
    [Graphical view ]
    PANTHERi PTHR31577. PTHR31577. 1 hit.
    Pfami PF15549. PGC7_Stella. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Stella is a maternal effect gene required for normal early development in mice."
      Payer B., Saitou M., Barton S.C., Thresher R., Dixon J.P., Zahn D., Colledge W.H., Carlton M.B., Nakano T., Surani M.A.
      Curr. Biol. 13:2110-2117(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells and map to chromosome 12p13, a hotspot for teratocarcinoma."
      Clark A.T., Rodriguez R.T., Bodnar M.S., Abeyta M.J., Cedars M.I., Turek P.J., Firpo M.T., Reijo Pera R.A.
      Stem Cells 22:169-179(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
      Tissue: Testis.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "NANOS3 function in human germ cell development."
      Julaton V.T., Reijo Pera R.A.
      Hum. Mol. Genet. 20:2238-2250(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    5. "Dppa3 is a marker of pluripotency and has a human homologue that is expressed in germ cell tumours."
      Bowles J., Teasdale R.P., James K., Koopman P.
      Cytogenet. Genome Res. 101:261-265(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiDPPA3_HUMAN
    AccessioniPrimary (citable) accession number: Q6W0C5
    Secondary accession number(s): Q0P5U3, Q6JZS6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 72 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3