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Q6W0C5 (DPPA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Developmental pluripotency-associated protein 3
Alternative name(s):
Stella-related protein
Gene names
Name:DPPA3
Synonyms:STELLAR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length159 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus. Cytoplasm. Note: Mainly localizes in the female pronucleus, localization to the male pronucleus in much weaker By similarity. Ref.4

Tissue specificity

Low expression in testis, ovary and thymus. Expressed in embryonic stem and carcinoma cells. Highly expressed in testicular germ cell tumors. Ref.1 Ref.2 Ref.5

Developmental stage

Expressed in fetal ovary. Ref.2

Domain

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 159159Developmental pluripotency-associated protein 3
PRO_0000239265

Natural variations

Natural variant511E → Q.
Corresponds to variant rs2024320 [ dbSNP | Ensembl ].
VAR_030533

Experimental info

Sequence conflict571S → L in AAO39708. Ref.2
Sequence conflict571S → L in AAH62480. Ref.3
Sequence conflict571S → L in AAI25146. Ref.3
Sequence conflict1501G → E in AAO39708. Ref.2
Sequence conflict1501G → E in AAH62480. Ref.3
Sequence conflict1501G → E in AAI25146. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q6W0C5 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 0ADDE3C260BF544A

FASTA15917,851
        10         20         30         40         50         60 
MDPSQFNPTY IPGSPQMLTE ENSRDDSGAS QISSETLIKN LSNLTINASS ESVSPLSEAL 

        70         80         90        100        110        120 
LRRESVGAAV LREIEDEWLY SRRGVRTLLS VQREKMARLR YMLLGGVRTH ERRPTNKEPK 

       130        140        150 
GVKKESRPFK CPCSFCVSNG WDPSENARIG NQDTKPLQP 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY317075 mRNA. Translation: AAQ84110.1.
AY230136 mRNA. Translation: AAO39708.1.
BC062480 mRNA. Translation: AAH62480.1.
BC125145 mRNA. Translation: AAI25146.1.
RefSeqNP_954980.1. NM_199286.2.
UniGeneHs.131358.
Hs.528118.

3D structure databases

ProteinModelPortalQ6W0C5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000339250.

PTM databases

PhosphoSiteQ6W0C5.

Polymorphism databases

DMDM74749483.

Proteomic databases

PaxDbQ6W0C5.
PRIDEQ6W0C5.

Protocols and materials databases

DNASU359787.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000345088; ENSP00000339250; ENSG00000187569.
GeneID359787.
KEGGhsa:359787.
UCSCuc001qtf.3. human.

Organism-specific databases

CTD359787.
GeneCardsGC12P007864.
H-InvDBHIX0037699.
HGNCHGNC:19199. DPPA3.
HPAHPA045695.
MIM608408. gene.
neXtProtNX_Q6W0C5.
PharmGKBPA134951641.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43204.
HOGENOMHOG000293369.
HOVERGENHBG094422.
InParanoidQ6W0C5.
OMAIPESSQM.
OrthoDBEOG7J448M.
PhylomeDBQ6W0C5.
TreeFamTF338511.

Gene expression databases

BgeeQ6W0C5.
CleanExHS_DPPA3.
GenevestigatorQ6W0C5.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiDPPA3.
GenomeRNAi359787.
NextBio99921.
PROQ6W0C5.
SOURCESearch...

Entry information

Entry nameDPPA3_HUMAN
AccessionPrimary (citable) accession number: Q6W0C5
Secondary accession number(s): Q0P5U3, Q6JZS6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 69 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM