LOCUS       NM_203407               1896 bp    mRNA    linear   PRI 15-MAY-2022
DEFINITION  Homo sapiens EZH inhibitory protein (EZHIP), mRNA.
ACCESSION   NM_203407 XM_291352 XR_109761 XR_113306 XR_172403
VERSION     NM_203407.3
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 1896)
  AUTHORS   Liu YF, Hu XM, Du ZG, Wang Y, Tang F and Xiong J.
  TITLE     [The value of CXorf67 and H3K27me3 for diagnosing germ cell tumors
            in central nervous system]
  JOURNAL   Zhonghua Bing Li Xue Za Zhi 51 (5), 407-412 (2022)
   PUBMED   35511635
  REMARK    GeneRIF: [The value of CXorf67 and H3K27me3 for diagnosing germ
            cell tumors in central nervous system].
REFERENCE   2  (bases 1 to 1896)
  AUTHORS   Nambirajan A, Sharma A, Rajeshwari M, Boorgula MT, Doddamani R,
            Garg A, Suri V, Sarkar C and Sharma MC.
  TITLE     EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates
            strongly with H3K27me3 loss in posterior fossa ependymomas and is
            mutually exclusive with H3K27M mutations
  JOURNAL   Brain Tumor Pathol 38 (1), 30-40 (2021)
   PUBMED   33130928
  REMARK    GeneRIF: EZH2 inhibitory protein (EZHIP/Cxorf67) expression
            correlates strongly with H3K27me3 loss in posterior fossa
            ependymomas and is mutually exclusive with H3K27M mutations.
            Erratum:[Brain Tumor Pathol. 2021 Jan 9;:. PMID: 33420598]
REFERENCE   3  (bases 1 to 1896)
  AUTHORS   Han J, Yu M, Bai Y, Yu J, Jin F, Li C, Zeng R, Peng J, Li A, Song
            X, Li H, Wu D and Li L.
  TITLE     Elevated CXorf67 Expression in PFA Ependymomas Suppresses DNA
            Repair and Sensitizes to PARP Inhibitors
  JOURNAL   Cancer Cell 38 (6), 844-856 (2020)
   PUBMED   33186520
  REMARK    GeneRIF: Elevated CXorf67 Expression in PFA Ependymomas Suppresses
            DNA Repair and Sensitizes to PARP Inhibitors.
REFERENCE   4  (bases 1 to 1896)
  AUTHORS   Antin C, Tauziede-Espariat A, Debily MA, Castel D, Grill J, Pages
            M, Ayrault O, Chretien F, Gareton A, Andreiuolo F, Lechapt E and
            Varlet P.
  TITLE     EZHIP is a specific diagnostic biomarker for posterior fossa
            ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP
            overexpression
  JOURNAL   Acta Neuropathol Commun 8 (1), 183 (2020)
   PUBMED   33153494
  REMARK    GeneRIF: EZHIP is a specific diagnostic biomarker for posterior
            fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with
            EZHIP overexpression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1896)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            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 JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1896)
  AUTHORS   Pajtler KW, Wen J, Sill M, Lin T, Orisme W, Tang B, Hubner JM,
            Ramaswamy V, Jia S, Dalton JD, Haupfear K, Rogers HA, Punchihewa C,
            Lee R, Easton J, Wu G, Ritzmann TA, Chapman R, Chavez L, Boop FA,
            Klimo P, Sabin ND, Ogg R, Mack SC, Freibaum BD, Kim HJ, Witt H,
            Jones DTW, Vo B, Gajjar A, Pounds S, Onar-Thomas A, Roussel MF,
            Zhang J, Taylor JP, Merchant TE, Grundy R, Tatevossian RG, Taylor
            MD, Pfister SM, Korshunov A, Kool M and Ellison DW.
  TITLE     Molecular heterogeneity and CXorf67 alterations in posterior fossa
            group A (PFA) ependymomas
  JOURNAL   Acta Neuropathol 136 (2), 211-226 (2018)
   PUBMED   29909548
  REMARK    GeneRIF: The data of this study suggested that heterogeneity among
            PFA ependymomas could have clinicopathologic utility and that
            CXorf67 may have a functional role in these tumors.
REFERENCE   7  (bases 1 to 1896)
  AUTHORS   Kim MS, Pinto SM, Getnet D, Nirujogi RS, Manda SS, Chaerkady R,
            Madugundu AK, Kelkar DS, Isserlin R, Jain S, Thomas JK, Muthusamy
            B, Leal-Rojas P, Kumar P, Sahasrabuddhe NA, Balakrishnan L, Advani
            J, George B, Renuse S, Selvan LD, Patil AH, Nanjappa V,
            Radhakrishnan A, Prasad S, Subbannayya T, Raju R, Kumar M,
            Sreenivasamurthy SK, Marimuthu A, Sathe GJ, Chavan S, Datta KK,
            Subbannayya Y, Sahu A, Yelamanchi SD, Jayaram S, Rajagopalan P,
            Sharma J, Murthy KR, Syed N, Goel R, Khan AA, Ahmad S, Dey G,
            Mudgal K, Chatterjee A, Huang TC, Zhong J, Wu X, Shaw PG, Freed D,
            Zahari MS, Mukherjee KK, Shankar S, Mahadevan A, Lam H, Mitchell
            CJ, Shankar SK, Satishchandra P, Schroeder JT, Sirdeshmukh R,
            Maitra A, Leach SD, Drake CG, Halushka MK, Prasad TS, Hruban RH,
            Kerr CL, Bader GD, Iacobuzio-Donahue CA, Gowda H and Pandey A.
  TITLE     A draft map of the human proteome
  JOURNAL   Nature 509 (7502), 575-581 (2014)
   PUBMED   24870542
REFERENCE   8  (bases 1 to 1896)
  AUTHORS   Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen
            V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P,
            Sciot R, Croce S, Amant F, Vandenberghe P, Cools J and
            Debiec-Rychter M.
  TITLE     Identification of a novel, recurrent MBTD1-CXorf67 fusion in
            low-grade endometrial stromal sarcoma
  JOURNAL   Int J Cancer 134 (5), 1112-1122 (2014)
   PUBMED   23959973
  REMARK    GeneRIF: The chimeric MBTD1-CXorf67 fusion identifies yet another
            cytogenetically distinct subgroup of low-grade Endometrial stromal
            sarcomas and offers the opportunity to shed light on the functions
            of two poorly characterized genes.
REFERENCE   9  (bases 1 to 1896)
  AUTHORS   Kim ST, Cheng Y, Hsu FC, Jin T, Kader AK, Zheng SL, Isaacs WB, Xu J
            and Sun J.
  TITLE     Prostate cancer risk-associated variants reported from genome-wide
            association studies: meta-analysis and their contribution to
            genetic Variation
  JOURNAL   Prostate 70 (16), 1729-1738 (2010)
   PUBMED   20564319
  REMARK    GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1896)
  AUTHORS   Gudmundsson J, Sulem P, Rafnar T, Bergthorsson JT, Manolescu A,
            Gudbjartsson D, Agnarsson BA, Sigurdsson A, Benediktsdottir KR,
            Blondal T, Jakobsdottir M, Stacey SN, Kostic J, Kristinsson KT,
            Birgisdottir B, Ghosh S, Magnusdottir DN, Thorlacius S,
            Thorleifsson G, Zheng SL, Sun J, Chang BL, Elmore JB, Breyer JP,
            McReynolds KM, Bradley KM, Yaspan BL, Wiklund F, Stattin P,
            Lindstrom S, Adami HO, McDonnell SK, Schaid DJ, Cunningham JM, Wang
            L, Cerhan JR, St Sauver JL, Isaacs SD, Wiley KE, Partin AW, Walsh
            PC, Polo S, Ruiz-Echarri M, Navarrete S, Fuertes F, Saez B, Godino
            J, Weijerman PC, Swinkels DW, Aben KK, Witjes JA, Suarez BK,
            Helfand BT, Frigge ML, Kristjansson K, Ober C, Jonsson E, Einarsson
            GV, Xu J, Gronberg H, Smith JR, Thibodeau SN, Isaacs WB, Catalona
            WJ, Mayordomo JI, Kiemeney LA, Barkardottir RB, Gulcher JR,
            Thorsteinsdottir U, Kong A and Stefansson K.
  TITLE     Common sequence variants on 2p15 and Xp11.22 confer susceptibility
            to prostate cancer
  JOURNAL   Nat Genet 40 (3), 281-283 (2008)
   PUBMED   18264098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC046248.1 and AL158055.12.
            
            On Nov 23, 2018 this sequence version replaced NM_203407.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: ERR279876.4475.1, BC046248.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342995.4/ ENSP00000342680.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-641               BC046248.1         34-674
            642-642             AL158055.12        91838-91838         c
            643-1891            BC046248.1         676-1924
            1892-1896           AL158055.12        90584-90588         c
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..1896
                     /gene="EZHIP"
                     /gene_synonym="CATACOMB; CXorf67; KIP75"
                     /note="EZH inhibitory protein"
                     /db_xref="GeneID:340602"
                     /db_xref="HGNC:HGNC:33738"
                     /db_xref="MIM:301036"
     exon            1..1896
                     /gene="EZHIP"
                     /gene_synonym="CATACOMB; CXorf67; KIP75"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1581
                     /gene="EZHIP"
                     /gene_synonym="CATACOMB; CXorf67; KIP75"
                     /note="uncharacterized protein CXorf67; catalytic
                     antagonist of Polycomb; K27M-like inhibitor of PRC2"
                     /codon_start=1
                     /product="EZH inhibitory protein"
                     /protein_id="NP_981952.1"
                     /db_xref="CCDS:CCDS78485.1"
                     /db_xref="GeneID:340602"
                     /db_xref="HGNC:HGNC:33738"
                     /db_xref="MIM:301036"
                     /translation="MATQSDMEKEQKHQQDEGQGGLNNETALASGDACGTGNQDPAAS
                     VTTVSSQASPSGGAALSSSTAGSSAAAATSAAIFITDEASGLPIIAAVLTERHSDRQD
                     CRSPHEVFGCVVPEGGSQAAVGPQKATGHADEHLAQTKSPGNSRRRKQPCRNQAAPAQ
                     KPPGRRLFPEPLPPSSPGFRPSSYPCSGASTSSQATQPGPALLSHASEARPATRSRIT
                     LVASALRRRASGPGPVIRGCTAQPGPAFPHRATHLDPARLSPESAPGPARRGRASVPG
                     PARRGCDSAPGPARRGRDSAPVSAPRGRDSAPGSARRGRDSAPGPALRVRTARSDAGH
                     RSTSTTPGTGLRSRSTQQRSALLSRRSLSGSADENPSCGTGSERLAFQSRSGSPDPEV
                     PSRASPPVWHAVRMRASSPSPPGRFFLPIPQQWDESSSSSYASNSSSPSRSPGLSPSS
                     PSPEFLGLRSISTPSPESLRYALMPEFYALSPVPPEEQAEIESTAHPATPPEP"
     regulatory      1872..1877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EZHIP"
                     /gene_synonym="CATACOMB; CXorf67; KIP75"
                     /note="hexamer: AATAAA"
     polyA_site      1896
                     /gene="EZHIP"
                     /gene_synonym="CATACOMB; CXorf67; KIP75"
                     /note="major polyA site"
ORIGIN      
        1 accagttcgc gctctcctcc ggcagaagta gcagctgcgc tcttgctctc tgggggagaa
       61 cctggcgtta tggccactca gtcagacatg gagaaggagc agaagcacca gcaggacgag
      121 gggcagggag ggctgaacaa cgaaaccgcc cttgcctccg gggatgcctg cgggaccggg
      181 aatcaagatc ctgctgcttc cgtcaccaca gtctccagcc aagcatctcc ctcgggcggc
      241 gccgccctaa gcagcagcac agccggttct tccgctgcag ccgccacctc cgccgccatt
      301 ttcatcaccg atgaggcctc ggggctgcca atcatagctg ctgtgctgac ggagaggcat
      361 tctgaccgcc aggactgccg cagtcctcac gaagtttttg ggtgtgtggt gcccgagggg
      421 ggcagccagg ccgctgtggg gccccagaag gccactggcc acgccgacga gcacctggcc
      481 cagaccaaga gccccgggaa cagccgtcgt aggaagcagc cctgccgcaa ccaggctgcc
      541 ccggctcaga agcctccagg gcggcgtctg tttcctgagc ctttgccgcc atcttctcca
      601 gggttccggc ccagcagcta tccctgttcc ggggcttcta cgtcgagtca ggcaacccag
      661 ccaggccctg cactcctaag ccacgcatct gaggcaaggc ctgctacccg aagccgcatc
      721 accctggtag cttctgctct ccgcagacgt gcatctggtc caggccctgt catccgaggc
      781 tgcaccgccc agccaggccc tgcttttcca caccgcgcca ctcatctaga ccctgctcgt
      841 ctaagccctg aatctgcgcc aggccctgcc cgccgaggcc gtgcatctgt gccaggccct
      901 gcccgccgag gctgcgattc tgcgccaggc cctgcccgcc gaggccgcga ttctgcgcca
      961 gtctctgccc cccgaggccg cgattctgcg ccaggctctg cccgccgagg ccgcgattct
     1021 gcgccaggcc ctgcccttcg cgtccgcaca gcaaggtcag acgccggtca tcgcagcacc
     1081 agcacgacgc caggcactgg cctccggagc cgttccaccc agcaaagatc agcccttctc
     1141 agccgccgct ctctgtctgg gtcagctgat gagaatcctt cctgtgggac tggctcagaa
     1201 aggcttgcct ttcagagcag atcaggctct cctgatcctg aggtcccaag ccgtgcttcc
     1261 ccgcctgttt ggcatgcagt ccgtatgcgt gcctcctcac cctcaccccc tgggaggttc
     1321 ttccttccca tccctcagca gtgggatgag agctcctcct cctcctatgc ttccaactcc
     1381 tcctccccga gtaggtctcc tggcctaagc ccctcatccc cttcccctga gtttttgggc
     1441 ctgagatcta tctccactcc tagccctgaa agccttaggt atgctttgat gcctgagttt
     1501 tatgctctga gccctgtccc tccagaagag caggcagaaa tagagagcac agctcacccc
     1561 gcaacaccgc ctgagccgtg accctctata agcatcctct aagacccaca gaaggaatca
     1621 acatttaccc actttgtgaa tgggctgcct gccctgtagt tagctgcgag gtctcccaaa
     1681 gttccagccg ttaaccaaca tcctgagtag tttagaagcc tctcctcccc atgactccac
     1741 cacctagcac ttaacctgct gttggccttt gattctgggc caccttcttc ctcaagagtt
     1801 tgcctttgcc cttgagctga gatttctgtt ttccaagttg cttttctgtt atgaaatgtt
     1861 ttaattagta aaataaattg ttttgtttaa acaaaa
//
