Q6W0C5 (DPPA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Developmental pluripotency-associated protein 3

Alternative name(s):
Stella-related protein

Gene names

Name:	DPPA3
Synonyms:	STELLAR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	159 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Chromatin regulator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW embryonic cleavage Inferred from electronic annotation. Source: Compara negative regulation of DNA demethylation Inferred from sequence or structural similarity. Source: UniProtKB protection of DNA demethylation of female pronucleus Inferred from sequence or structural similarity. Source: UniProtKB regulation of genetic imprinting Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.4. Source: UniProtKB female pronucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	methylated histone residue binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 159	159	Developmental pluripotency-associated protein 3		PRO_0000239265
Natural variations
	Natural variant	51	1	E → Q. Corresponds to variant rs2024320 [ dbSNP | Ensembl ].		VAR_030533
Experimental info
	Sequence conflict	57	1	S → L in AAO39708. Ref.2
	Sequence conflict	57	1	S → L in AAH62480. Ref.3
	Sequence conflict	57	1	S → L in AAI25146. Ref.3
	Sequence conflict	150	1	G → E in AAO39708. Ref.2
	Sequence conflict	150	1	G → E in AAH62480. Ref.3
	Sequence conflict	150	1	G → E in AAI25146. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q6W0C5 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 0ADDE3C260BF544A	FASTA	159	17,851
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00241801.
RefSeq	NP_954980.1. NM_199286.2.
UniGene	Hs.131358. Hs.528118.
3D structure databases
ProteinModelPortal	Q6W0C5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000339250.
PTM databases
PhosphoSite	Q6W0C5.
Polymorphism databases
DMDM	74749483.
Proteomic databases
PaxDb	Q6W0C5.
PRIDE	Q6W0C5.
Protocols and materials databases
DNASU	359787.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000345088; ENSP00000339250; ENSG00000187569.
GeneID	359787.
KEGG	hsa:359787.
UCSC	uc001qtf.3. human.
Organism-specific databases
CTD	359787.
GeneCards	GC12P007864.
H-InvDB	HIX0037699.
HGNC	HGNC:19199. DPPA3.
MIM	608408. gene.
neXtProt	NX_Q6W0C5.
PharmGKB	PA134951641.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG43204.
HOGENOM	HOG000293369.
HOVERGEN	HBG094422.
InParanoid	Q6W0C5.
OMA	IPESSQM.
OrthoDB	EOG47M20D.
PhylomeDB	Q6W0C5.
Gene expression databases
Bgee	Q6W0C5.
CleanEx	HS_DPPA3.
Genevestigator	Q6W0C5.
GermOnline	ENSG00000187569. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	359787.
NextBio	99921.
SOURCE	Search...

Entry information

Entry name

DPPA3_HUMAN

Accession

Primary (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 3, 2013
This is version 63 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.