LOCUS       NM_001080507             784 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens oocyte expressed protein (OOEP), transcript variant 1,
            mRNA.
ACCESSION   NM_001080507 XM_496818
VERSION     NM_001080507.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 784)
  AUTHORS   Tong,X., Jin,J., Hu,Z., Zhang,Y., Fan,H.Y., Zhang,Y.L. and Zhang,S.
  TITLE     Mutations in OOEP and NLRP5 identified in infertile patients with
            early embryonic arrest
  JOURNAL   Hum Mutat 43 (12), 1909-1920 (2022)
   PUBMED   35946397
  REMARK    GeneRIF: Mutations in OOEP and NLRP5 identified in infertile
            patients with early embryonic arrest.
REFERENCE   2  (bases 1 to 784)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 784)
  AUTHORS   Alazami,A.M., Awad,S.M., Coskun,S., Al-Hassan,S., Hijazi,H.,
            Abdulwahab,F.M., Poizat,C. and Alkuraya,F.S.
  TITLE     TLE6 mutation causes the earliest known human embryonic lethality
  JOURNAL   Genome Biol 16, 240 (2015)
   PUBMED   26537248
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 784)
  AUTHORS   Zhu,K., Yan,L., Zhang,X., Lu,X., Wang,T., Yan,J., Liu,X., Qiao,J.
            and Li,L.
  TITLE     Identification of a human subcortical maternal complex
  JOURNAL   Mol Hum Reprod 21 (4), 320-329 (2015)
   PUBMED   25542835
REFERENCE   5  (bases 1 to 784)
  AUTHORS   Pierre,A., Gautier,M., Callebaut,I., Bontoux,M., Jeanpierre,E.,
            Pontarotti,P. and Monget,P.
  TITLE     Atypical structure and phylogenomic evolution of the new eutherian
            oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family
  JOURNAL   Genomics 90 (5), 583-594 (2007)
   PUBMED   17913455
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC019205.4 and KF459597.1.
            
            On Aug 7, 2020 this sequence version replaced NM_001080507.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX093821.1, SRR5189664.163113.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149178, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370359.6/ ENSP00000359384.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-295               AC019205.4         73664-73958
            296-475             KF459597.1         59-238              c
            476-784             AC019205.4         74698-75006
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..784
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /note="oocyte expressed protein"
                     /db_xref="GeneID:441161"
                     /db_xref="HGNC:HGNC:21382"
                     /db_xref="MIM:611689"
     exon            1..295
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..555
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /note="isoform 1 is encoded by transcript variant 1; KH
                     homology domain containing 2; oocyte and embryo protein
                     19; oocyte-expressed protein homolog; oocyte- and
                     embryo-specific protein 19; KH homology domain-containing
                     protein 2; oocyte expressed protein homolog (dog)"
                     /codon_start=1
                     /product="oocyte-expressed protein homolog isoform 1"
                     /protein_id="NP_001073976.1"
                     /db_xref="CCDS:CCDS47451.1"
                     /db_xref="GeneID:441161"
                     /db_xref="HGNC:HGNC:21382"
                     /db_xref="MIM:611689"
                     /translation="MVDDAGAAESQRGKQTPAHSLEQLRRLPLPPPQIRIRPWWFPVQ
                     ELRDPLVFYLEAWLADELFGPDRAIIPEMEWTSQALLTVDIVDSGNLVEITVFGRPRV
                     QNRVKSMLLCLAWFHREHRARAEKMKHLEKNLKAHASDPHSPQDPVA"
     exon            296..475
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            476..784
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      765..770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /note="hexamer: AATAAA"
     polyA_site      784
                     /gene="OOEP"
                     /gene_synonym="C6orf156; FLOPED; HOEP19; KHDC2"
                     /note="major polyA site"
ORIGIN      
        1 ggagcgggtc gaatatggta aaagagagcc cgagcttcgc gcctgggtct ggaagaggtc
       61 ttgcgaaagc cgcctcgagc gcgctccgcg gctgctggtc ccagtatggt cgatgatgct
      121 ggtgccgctg agtcccagcg gggcaaacag actccggccc actccctgga gcagctgcgt
      181 aggttaccac ttccgccgcc acagattcgc atccggccct ggtggtttcc ggtgcaggaa
      241 ctgagagacc ctttggtgtt ctacctagag gcatggctgg cagacgagct ctttggccca
      301 gaccgagcca taattccaga aatggagtgg acgagccagg ccctgctgac agtggacata
      361 gtggactcag ggaacctagt cgaaatcacc gttttcgggc ggccccgtgt acagaatcgg
      421 gtgaagagca tgctcctgtg cctggcatgg tttcaccgag aacatcgtgc ccgagctgag
      481 aagatgaaac accttgagaa gaacttgaag gcccatgcat cagaccccca ctctccccag
      541 gatcctgttg cttaagacaa catagttact gttgggaaca tcttaacttt ctaacttttg
      601 ctgctaaagt tgaagaaaag caagtatagc attcttaaat ccccgtattc ctttttcctg
      661 tgtcttgatg gattgtggtt tattttgttg caagagtgag tttgaactat tctaataaag
      721 aaatggctat tttgccaaaa gcattaagat cttcacacac ttataataaa gcaaatttat
      781 aaaa
//
