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Q6W0C5

- DPPA3_HUMAN

UniProt

Q6W0C5 - DPPA3_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00530000064345.
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

        10         20         30         40         50
MDPSQFNPTY IPGSPQMLTE ENSRDDSGAS QISSETLIKN LSNLTINASS
60 70 80 90 100
ESVSPLSEAL LRRESVGAAV LREIEDEWLY SRRGVRTLLS VQREKMARLR
110 120 130 140 150
YMLLGGVRTH ERRPTNKEPK GVKKESRPFK CPCSFCVSNG WDPSENARIG

NQDTKPLQP
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.
GeneTreei ENSGT00530000064345.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 73 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