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 18-SEP-2019, entry version 86. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S., RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., RA 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., RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., RA Frankland J., French L., Garner P., Garnett J., Ghori M.J., RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., 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), CC plays an essential role for zygotes to progress beyond the first CC embryonic cell divisions. {ECO:0000250}. CC -!- SUBUNIT: Component of the SCMC which also includes at least CC KHDC3L, NLRP5 and TLE6. {ECO:0000269|PubMed:26537248}. CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=In the CC subcortical cytoplasm of early embryos from the 1-cell to the CC blastocyst stages. From the 2-cell stage, still detected in the CC subcortex, but excluded from cell-cell contact regions (By CC similarity). {ECO:0000250}. 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 CORUM; A6NGQ2; -. DR IntAct; A6NGQ2; 8. DR STRING; 9606.ENSP00000359384; -. DR BioMuta; OOEP; -. DR PaxDb; A6NGQ2; -. DR PRIDE; A6NGQ2; -. DR ProteomicsDB; 1143; -. DR Ensembl; ENST00000370359; ENSP00000359384; ENSG00000203907. DR GeneID; 441161; -. DR KEGG; hsa:441161; -. DR UCSC; uc003pgu.5; human. DR CTD; 441161; -. DR GeneCards; OOEP; -. DR HGNC; HGNC:21382; OOEP. DR HPA; HPA055165; -. DR MIM; 611689; gene. DR neXtProt; NX_A6NGQ2; -. DR OpenTargets; ENSG00000203907; -. DR PharmGKB; PA162398414; -. DR eggNOG; ENOG410IYS7; Eukaryota. DR eggNOG; ENOG4111410; LUCA. DR GeneTree; ENSGT00940000162097; -. DR HOGENOM; HOG000037927; -. DR InParanoid; A6NGQ2; -. DR OMA; MIPEMEW; -. DR OrthoDB; 1476034at2759; -. DR PhylomeDB; A6NGQ2; -. DR TreeFam; TF338690; -. DR ChiTaRS; OOEP; human. DR GenomeRNAi; 441161; -. DR Pharos; A6NGQ2; -. DR PRO; PR:A6NGQ2; -. DR Proteomes; UP000005640; Chromosome 6. DR Bgee; ENSG00000203907; Expressed in 75 organ(s), highest expression level in oocyte. DR ExpressionAtlas; A6NGQ2; baseline and differential. DR Genevisible; A6NGQ2; HS. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB. DR GO; GO:0003723; F:RNA binding; IEA:InterPro. 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 Complete proteome; Cytoplasm; Polymorphism; Reference proteome. FT CHAIN 1 149 Oocyte-expressed protein homolog. FT /FTId=PRO_0000328802. FT DOMAIN 49 110 KH; atypical. FT VARIANT 18 18 A -> T (in dbSNP:rs2280286). FT /FTId=VAR_042523. FT VARIANT 92 92 V -> A (in dbSNP:rs496530). FT {ECO:0000269|Ref.1}. FT /FTId=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 //