DPPA3_HUMAN
ID DPPA3_HUMAN Reviewed; 159 AA.
AC Q6W0C5; Q0P5U3; Q6JZS6;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Developmental pluripotency-associated protein 3;
DE AltName: Full=Stella-related protein;
GN Name=DPPA3; Synonyms=STELLAR;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=14654002; DOI=10.1016/j.cub.2003.11.026;
RA Payer B., Saitou M., Barton S.C., Thresher R., Dixon J.P., Zahn D.,
RA Colledge W.H., Carlton M.B., Nakano T., Surani M.A.;
RT "Stella is a maternal effect gene required for normal early development in
RT mice.";
RL Curr. Biol. 13:2110-2117(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=14990856; DOI=10.1634/stemcells.22-2-169;
RA Clark A.T., Rodriguez R.T., Bodnar M.S., Abeyta M.J., Cedars M.I.,
RA Turek P.J., Firpo M.T., Reijo Pera R.A.;
RT "Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells
RT and map to chromosome 12p13, a hotspot for teratocarcinoma.";
RL Stem Cells 22:169-179(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=21421998; DOI=10.1093/hmg/ddr114;
RA Julaton V.T., Reijo Pera R.A.;
RT "NANOS3 function in human germ cell development.";
RL Hum. Mol. Genet. 20:2238-2250(2011).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=14684992; DOI=10.1159/000074346;
RA Bowles J., Teasdale R.P., James K., Koopman P.;
RT "Dppa3 is a marker of pluripotency and has a human homologue that is
RT expressed in germ cell tumours.";
RL Cytogenet. Genome Res. 101:261-265(2003).
CC -!- FUNCTION: Primordial germ cell (PGCs)-specific protein involved in
CC epigenetic chromatin reprogramming in the zygote following
CC fertilization. In zygotes, DNA demethylation occurs selectively in the
CC paternal pronucleus before the first cell division, while the adjacent
CC maternal pronucleus and certain paternally-imprinted loci are protected
CC from this process. Participates in protection of DNA methylation in the
CC maternal pronucleus by preventing conversion of 5mC to 5hmC:
CC specifically recognizes and binds histone H3 dimethylated at 'Lys-9'
CC (H3K9me2) on maternal genome, and protects maternal genome from TET3-
CC mediated conversion to 5hmC and subsequent DNA demethylation. Does not
CC bind paternal chromatin, which is mainly packed into protamine and does
CC not contain much H3K9me2 mark. Also protects imprinted loci that are
CC marked with H3K9me2 in mature sperm from DNA demethylation in early
CC embryogenesis. May be important for the totipotent/pluripotent states
CC continuing through preimplantation development. Also involved in
CC chromatin condensation in oocytogenesis (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q6W0C5; O75140-2: DEPDC5; NbExp=3; IntAct=EBI-12082590, EBI-12366971;
CC Q6W0C5; P63167: DYNLL1; NbExp=5; IntAct=EBI-12082590, EBI-349105;
CC Q6W0C5; Q96FJ2: DYNLL2; NbExp=3; IntAct=EBI-12082590, EBI-742371;
CC Q6W0C5; Q99871: HAUS7; NbExp=3; IntAct=EBI-12082590, EBI-395719;
CC Q6W0C5; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-12082590, EBI-3044087;
CC Q6W0C5; Q01546: KRT76; NbExp=3; IntAct=EBI-12082590, EBI-2952745;
CC Q6W0C5; P37198: NUP62; NbExp=3; IntAct=EBI-12082590, EBI-347978;
CC Q6W0C5; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-12082590, EBI-949255;
CC Q6W0C5; Q9UJW9: SERTAD3; NbExp=3; IntAct=EBI-12082590, EBI-748621;
CC Q6W0C5; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-12082590, EBI-1105213;
CC Q6W0C5; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-12082590, EBI-492476;
CC Q6W0C5; Q5T7W0: ZNF618; NbExp=3; IntAct=EBI-12082590, EBI-6255994;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21421998}. Cytoplasm
CC {ECO:0000269|PubMed:21421998}. Note=Mainly localizes in the female
CC pronucleus, localization to the male pronucleus in much weaker.
CC {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Low expression in testis, ovary and thymus.
CC Expressed in embryonic stem and carcinoma cells. Highly expressed in
CC testicular germ cell tumors. {ECO:0000269|PubMed:14654002,
CC ECO:0000269|PubMed:14684992, ECO:0000269|PubMed:14990856}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal ovary.
CC {ECO:0000269|PubMed:14990856}.
CC -!- DOMAIN: Mediates binding to H3K9me2 via N-terminal region, while
CC ability to exclude TET3 from the maternal pronucleus requires the C-
CC terminal part. {ECO:0000250}.
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DR EMBL; AY317075; AAQ84110.1; -; mRNA.
DR EMBL; AY230136; AAO39708.1; -; mRNA.
DR EMBL; BC062480; AAH62480.1; -; mRNA.
DR EMBL; BC125145; AAI25146.1; -; mRNA.
DR CCDS; CCDS8582.1; -.
DR RefSeq; NP_954980.1; NM_199286.3.
DR AlphaFoldDB; Q6W0C5; -.
DR BioGRID; 131762; 28.
DR IntAct; Q6W0C5; 12.
DR STRING; 9606.ENSP00000339250; -.
DR iPTMnet; Q6W0C5; -.
DR PhosphoSitePlus; Q6W0C5; -.
DR BioMuta; DPPA3; -.
DR DMDM; 74749483; -.
DR MassIVE; Q6W0C5; -.
DR PaxDb; Q6W0C5; -.
DR PeptideAtlas; Q6W0C5; -.
DR PRIDE; Q6W0C5; -.
DR Antibodypedia; 22960; 172 antibodies from 31 providers.
DR DNASU; 359787; -.
DR Ensembl; ENST00000345088.3; ENSP00000339250.2; ENSG00000187569.3.
DR GeneID; 359787; -.
DR KEGG; hsa:359787; -.
DR MANE-Select; ENST00000345088.3; ENSP00000339250.2; NM_199286.4; NP_954980.1.
DR UCSC; uc001qtf.4; human.
DR CTD; 359787; -.
DR DisGeNET; 359787; -.
DR GeneCards; DPPA3; -.
DR HGNC; HGNC:19199; DPPA3.
DR HPA; ENSG00000187569; Not detected.
DR MIM; 608408; gene.
DR neXtProt; NX_Q6W0C5; -.
DR OpenTargets; ENSG00000187569; -.
DR PharmGKB; PA134951641; -.
DR VEuPathDB; HostDB:ENSG00000187569; -.
DR eggNOG; ENOG502TDBW; Eukaryota.
DR GeneTree; ENSGT00800000124303; -.
DR HOGENOM; CLU_107188_1_0_1; -.
DR InParanoid; Q6W0C5; -.
DR OMA; NARMGNY; -.
DR OrthoDB; 1539071at2759; -.
DR PhylomeDB; Q6W0C5; -.
DR TreeFam; TF338511; -.
DR PathwayCommons; Q6W0C5; -.
DR SignaLink; Q6W0C5; -.
DR BioGRID-ORCS; 359787; 105 hits in 1027 CRISPR screens.
DR GeneWiki; DPPA3; -.
DR GenomeRNAi; 359787; -.
DR Pharos; Q6W0C5; Tbio.
DR PRO; PR:Q6W0C5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6W0C5; protein.
DR Bgee; ENSG00000187569; Expressed in duodenum and 13 other tissues.
DR Genevisible; Q6W0C5; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0001939; C:female pronucleus; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0035064; F:methylated histone binding; ISS:UniProtKB.
DR GO; GO:0006325; P:chromatin organization; IEA:UniProtKB-KW.
DR GO; GO:1901536; P:negative regulation of DNA demethylation; ISS:UniProtKB.
DR GO; GO:0044726; P:protection of DNA demethylation of female pronucleus; ISS:UniProtKB.
DR GO; GO:2000653; P:regulation of genetic imprinting; ISS:UniProtKB.
DR InterPro; IPR029096; Dppa3.
DR PANTHER; PTHR31577; PTHR31577; 1.
DR Pfam; PF15549; PGC7_Stella; 1.
PE 1: Evidence at protein level;
KW Chromatin regulator; Cytoplasm; Developmental protein; Nucleus;
KW Reference proteome.
FT CHAIN 1..159
FT /note="Developmental pluripotency-associated protein 3"
FT /id="PRO_0000239265"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 140..159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 51
FT /note="E -> Q (in dbSNP:rs2024320)"
FT /id="VAR_030533"
FT CONFLICT 57
FT /note="S -> L (in Ref. 2; AAO39708 and 3; AAH62480/
FT AAI25146)"
FT /evidence="ECO:0000305"
FT CONFLICT 150
FT /note="G -> E (in Ref. 2; AAO39708 and 3; AAH62480/
FT AAI25146)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 159 AA; 17851 MW; 0ADDE3C260BF544A CRC64;
MDPSQFNPTY IPGSPQMLTE ENSRDDSGAS QISSETLIKN LSNLTINASS ESVSPLSEAL
LRRESVGAAV LREIEDEWLY SRRGVRTLLS VQREKMARLR YMLLGGVRTH ERRPTNKEPK
GVKKESRPFK CPCSFCVSNG WDPSENARIG NQDTKPLQP
