ID OOEP_HUMAN Reviewed; 149 AA. AC A6NGQ2; A6NIN5; A9UIB7; DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot. DT 05-OCT-2010, sequence version 3. DT 07-OCT-2020, entry version 94. DE RecName: Full=Oocyte-expressed protein homolog; DE AltName: Full=KH homology domain-containing protein 2; DE AltName: Full=Oocyte- and embryo-specific protein 19; DE Short=hOEP19; GN Name=OOEP; Synonyms=C6orf156, KHDC2, OEP19; 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 VARIANT ALA-92. RA Chertihin O., Herr J.C.; RT "Human oocyte and embryo protein (HOEP19)."; RL Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=14574404; DOI=10.1038/nature02055; RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., RA Rogers J., Beck S.; RT "The DNA sequence and analysis of human chromosome 6."; RL Nature 425:805-811(2003). RN [3] RP IDENTIFICATION. RX PubMed=17913455; DOI=10.1016/j.ygeno.2007.06.003; RA Pierre A., Gautier M., Callebaut I., Bontoux M., Jeanpierre E., RA Pontarotti P., Monget P.; RT "Atypical structure and phylogenomic evolution of the new eutherian RT oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family."; RL Genomics 90:583-594(2007). RN [4] RP INTERACTION WITH TLE6. RX PubMed=26537248; DOI=10.1186/s13059-015-0792-0; RA Alazami A.M., Awad S.M., Coskun S., Al-Hassan S., Hijazi H., RA Abdulwahab F.M., Poizat C., Alkuraya F.S.; RT "TLE6 mutation causes the earliest known human embryonic lethality."; RL Genome Biol. 16:R240.1-R240.8(2015). CC -!- FUNCTION: As a member of the subcortical maternal complex (SCMC), plays CC an essential role for zygotes to progress beyond the first embryonic CC cell divisions. {ECO:0000250|UniProtKB:Q9CWE6}. CC -!- SUBUNIT: Part of the subcortical maternal complex (SCMC) composed of CC NLRP5, KHDC3L, OOEP, ZBED3 and TLE6 (PubMed:26537248). Within the CC complex interacts with TLE6 (PubMed:26537248). CC {ECO:0000269|PubMed:26537248}. CC -!- INTERACTION: CC A6NGQ2; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-18583589, EBI-11096309; CC A6NGQ2; P09917: ALOX5; NbExp=3; IntAct=EBI-18583589, EBI-79934; CC A6NGQ2; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-18583589, EBI-8643161; CC A6NGQ2; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-18583589, EBI-744099; CC A6NGQ2; Q9HAQ2: KIF9; NbExp=3; IntAct=EBI-18583589, EBI-8472129; CC A6NGQ2; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-18583589, EBI-2341787; CC A6NGQ2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-18583589, EBI-741158; CC A6NGQ2; P14678-2: SNRPB; NbExp=3; IntAct=EBI-18583589, EBI-372475; CC A6NGQ2; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-18583589, EBI-11955057; CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9CWE6}. Note=In CC the subcortical cytoplasm of early embryos from the 1-cell to the CC blastocyst stages (By similarity). From the 2-cell stage, still CC detected in the subcortex, but excluded from cell-cell contact regions CC (By similarity). {ECO:0000250|UniProtKB:Q9CWE6}. CC -!- DOMAIN: Contains an atypical KH domain with amino acid changes at CC critical sites, suggesting that it may not bind RNA. CC -!- SIMILARITY: Belongs to the KHDC1 family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; EU290647; ABX84389.1; -; mRNA. DR EMBL; AC019205; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR CCDS; CCDS47451.1; -. DR RefSeq; NP_001073976.1; NM_001080507.2. DR SMR; A6NGQ2; -. DR BioGRID; 137219; 9. DR CORUM; A6NGQ2; -. DR IntAct; A6NGQ2; 9. DR STRING; 9606.ENSP00000359384; -. DR BioMuta; OOEP; -. DR jPOST; A6NGQ2; -. DR PaxDb; A6NGQ2; -. DR PeptideAtlas; A6NGQ2; -. DR PRIDE; A6NGQ2; -. DR ProteomicsDB; 1143; -. DR Antibodypedia; 65863; 14 antibodies. DR Ensembl; ENST00000370359; ENSP00000359384; ENSG00000203907. DR GeneID; 441161; -. DR KEGG; hsa:441161; -. DR UCSC; uc003pgu.5; human. DR CTD; 441161; -. DR EuPathDB; HostDB:ENSG00000203907.9; -. DR GeneCards; OOEP; -. DR HGNC; HGNC:21382; OOEP. DR HPA; ENSG00000203907; Tissue enhanced (salivary gland, testis). DR MIM; 611689; gene. DR neXtProt; NX_A6NGQ2; -. DR OpenTargets; ENSG00000203907; -. DR PharmGKB; PA162398414; -. DR eggNOG; ENOG502RU0M; Eukaryota. DR GeneTree; ENSGT00940000162097; -. DR HOGENOM; CLU_146793_0_0_1; -. DR InParanoid; A6NGQ2; -. DR OMA; VPEMEWM; -. DR OrthoDB; 1476034at2759; -. DR PhylomeDB; A6NGQ2; -. DR TreeFam; TF338690; -. DR PathwayCommons; A6NGQ2; -. DR BioGRID-ORCS; 441161; 5 hits in 865 CRISPR screens. DR ChiTaRS; OOEP; human. DR GenomeRNAi; 441161; -. DR Pharos; A6NGQ2; Tdark. DR PRO; PR:A6NGQ2; -. DR Proteomes; UP000005640; Chromosome 6. DR RNAct; A6NGQ2; protein. DR Bgee; ENSG00000203907; Expressed in oocyte and 97 other tissues. DR ExpressionAtlas; A6NGQ2; baseline and differential. DR Genevisible; A6NGQ2; HS. DR GO; GO:0045179; C:apical cortex; IBA:GO_Central. DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB. DR GO; GO:0003723; F:RNA binding; IBA:GO_Central. DR GO; GO:0009880; P:embryonic pattern specification; IBA:GO_Central. DR GO; GO:0035088; P:establishment or maintenance of apical/basal cell polarity; IBA:GO_Central. DR CDD; cd12795; FILIA_N_like; 1. DR Gene3D; 3.30.1370.10; -; 1. DR InterPro; IPR036612; KH_dom_type_1_sf. DR InterPro; IPR031952; MOEP19_KH-like. DR InterPro; IPR040068; OOEP. DR PANTHER; PTHR19447:SF14; PTHR19447:SF14; 1. DR Pfam; PF16005; MOEP19; 1. PE 1: Evidence at protein level; KW Cytoplasm; Polymorphism; Reference proteome. FT CHAIN 1..149 FT /note="Oocyte-expressed protein homolog" FT /id="PRO_0000328802" FT DOMAIN 49..110 FT /note="KH; atypical" FT VARIANT 18 FT /note="A -> T (in dbSNP:rs2280286)" FT /id="VAR_042523" FT VARIANT 92 FT /note="V -> A (in dbSNP:rs496530)" FT /evidence="ECO:0000269|Ref.1" FT /id="VAR_042524" SQ SEQUENCE 149 AA; 17170 MW; E7C726FB46909404 CRC64; MVDDAGAAES QRGKQTPAHS LEQLRRLPLP PPQIRIRPWW FPVQELRDPL VFYLEAWLAD ELFGPDRAII PEMEWTSQAL LTVDIVDSGN LVEITVFGRP RVQNRVKSML LCLAWFHREH RARAEKMKHL EKNLKAHASD PHSPQDPVA //