LOCUS       NM_001386073            1710 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens aminopeptidase O (putative) (AOPEP), transcript
            variant 15, mRNA.
ACCESSION   NM_001386073
VERSION     NM_001386073.1
KEYWORDS    RefSeq.
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 1710)
  AUTHORS   Lin,J., Li,C., Cui,Y., Hou,Y., Zhang,L., Ou,R., Wei,Q., Liu,K.,
            Huang,R., Yang,T., Xiao,Y., Jiang,Q., Yang,J., Chen,X. and Shang,H.
  TITLE     Mutation screening of AOPEP variants in a large dystonia cohort
  JOURNAL   J Neurol 270 (6), 3225-3233 (2023)
   PUBMED   36933031
  REMARK    GeneRIF: Mutation screening of AOPEP variants in a large dystonia
            cohort.
REFERENCE   2  (bases 1 to 1710)
  AUTHORS   Garavaglia,B., Vallian,S., Romito,L.M., Straccia,G., Capecci,M.,
            Invernizzi,F., Andrenelli,E., Kazemi,A., Boesch,S., Kopajtich,R.,
            Olfati,N., Shariati,M., Shoeibi,A., Sadr-Nabavi,A., Prokisch,H.,
            Winkelmann,J. and Zech,M.
  TITLE     AOPEP variants as a novel cause of recessive dystonia: Generalized
            dystonia and dystonia-parkinsonism
  JOURNAL   Parkinsonism Relat Disord 97, 52-56 (2022)
   PUBMED   35306330
  REMARK    GeneRIF: AOPEP variants as a novel cause of recessive dystonia:
            Generalized dystonia and dystonia-parkinsonism.
REFERENCE   3  (bases 1 to 1710)
  AUTHORS   Zech,M., Kumar,K.R., Reining,S., Reunert,J., Tchan,M., Riley,L.G.,
            Drew,A.P., Adam,R.J., Berutti,R., Biskup,S., Derive,N.,
            Bakhtiari,S., Jin,S.C., Kruer,M.C., Bardakjian,T.,
            Gonzalez-Alegre,P., Keller Sarmiento,I.J., Mencacci,N.E.,
            Lubbe,S.J., Kurian,M.A., Clot,F., Meneret,A., de Sainte
            Agathe,J.M., Fung,V.S.C., Vidailhet,M., Baumann,M., Marquardt,T.,
            Winkelmann,J. and Boesch,S.
  TITLE     Biallelic AOPEP Loss-of-Function Variants Cause Progressive
            Dystonia with Prominent Limb Involvement
  JOURNAL   Mov Disord 37 (1), 137-147 (2022)
   PUBMED   34596301
  REMARK    GeneRIF: Biallelic AOPEP Loss-of-Function Variants Cause
            Progressive Dystonia with Prominent Limb Involvement.
REFERENCE   4  (bases 1 to 1710)
  AUTHORS   Lybech,L.K.M., Calabro,M., Briuglia,S., Drago,A. and Crisafulli,C.
  TITLE     Suicide Related Phenotypes in a Bipolar Sample: Genetic
            Underpinnings
  JOURNAL   Genes (Basel) 12 (10), 1482 (2021)
   PUBMED   34680877
  REMARK    GeneRIF: Suicide Related Phenotypes in a Bipolar Sample: Genetic
            Underpinnings.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1710)
  AUTHORS   Ichikawa,M., Konoshita,T., Makino,Y., Suzuki,J., Ishizuka,T. and
            Nakamura,H.
  TITLE     An association study of C9orf3, a novel component of the
            renin-angiotensin system, and hypertension in diabetes
  JOURNAL   Sci Rep 10 (1), 16111 (2020)
   PUBMED   32999396
  REMARK    GeneRIF: An association study of C9orf3, a novel component of the
            renin-angiotensin system, and hypertension in diabetes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1710)
  AUTHORS   Shi,Y., Zhao,H., Shi,Y., Cao,Y., Yang,D., Li,Z., Zhang,B.,
            Liang,X., Li,T., Chen,J., Shen,J., Zhao,J., You,L., Gao,X., Zhu,D.,
            Zhao,X., Yan,Y., Qin,Y., Li,W., Yan,J., Wang,Q., Zhao,J., Geng,L.,
            Ma,J., Zhao,Y., He,G., Zhang,A., Zou,S., Yang,A., Liu,J., Li,W.,
            Li,B., Wan,C., Qin,Y., Shi,J., Yang,J., Jiang,H., Xu,J.E., Qi,X.,
            Sun,Y., Zhang,Y., Hao,C., Ju,X., Zhao,D., Ren,C.E., Li,X.,
            Zhang,W., Zhang,Y., Zhang,J., Wu,D., Zhang,C., He,L. and Chen,Z.J.
  TITLE     Genome-wide association study identifies eight new risk loci for
            polycystic ovary syndrome
  JOURNAL   Nat Genet 44 (9), 1020-1025 (2012)
   PUBMED   22885925
REFERENCE   7  (bases 1 to 1710)
  AUTHORS   Ellinor,P.T., Lunetta,K.L., Albert,C.M., Glazer,N.L., Ritchie,M.D.,
            Smith,A.V., Arking,D.E., Muller-Nurasyid,M., Krijthe,B.P.,
            Lubitz,S.A., Bis,J.C., Chung,M.K., Dorr,M., Ozaki,K., Roberts,J.D.,
            Smith,J.G., Pfeufer,A., Sinner,M.F., Lohman,K., Ding,J.,
            Smith,N.L., Smith,J.D., Rienstra,M., Rice,K.M., Van Wagoner,D.R.,
            Magnani,J.W., Wakili,R., Clauss,S., Rotter,J.I., Steinbeck,G.,
            Launer,L.J., Davies,R.W., Borkovich,M., Harris,T.B., Lin,H.,
            Volker,U., Volzke,H., Milan,D.J., Hofman,A., Boerwinkle,E.,
            Chen,L.Y., Soliman,E.Z., Voight,B.F., Li,G., Chakravarti,A.,
            Kubo,M., Tedrow,U.B., Rose,L.M., Ridker,P.M., Conen,D., Tsunoda,T.,
            Furukawa,T., Sotoodehnia,N., Xu,S., Kamatani,N., Levy,D.,
            Nakamura,Y., Parvez,B., Mahida,S., Furie,K.L., Rosand,J.,
            Muhammad,R., Psaty,B.M., Meitinger,T., Perz,S., Wichmann,H.E.,
            Witteman,J.C., Kao,W.H., Kathiresan,S., Roden,D.M.,
            Uitterlinden,A.G., Rivadeneira,F., McKnight,B., Sjogren,M.,
            Newman,A.B., Liu,Y., Gollob,M.H., Melander,O., Tanaka,T.,
            Stricker,B.H., Felix,S.B., Alonso,A., Darbar,D., Barnard,J.,
            Chasman,D.I., Heckbert,S.R., Benjamin,E.J., Gudnason,V. and Kaab,S.
  TITLE     Meta-analysis identifies six new susceptibility loci for atrial
            fibrillation
  JOURNAL   Nat Genet 44 (6), 670-675 (2012)
   PUBMED   22544366
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1710)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   9  (bases 1 to 1710)
  AUTHORS   Kerns,S.L., Ostrer,H., Stock,R., Li,W., Moore,J., Pearlman,A.,
            Campbell,C., Shao,Y., Stone,N., Kusnetz,L. and Rosenstein,B.S.
  TITLE     Genome-wide association study to identify single nucleotide
            polymorphisms (SNPs) associated with the development of erectile
            dysfunction in African-American men after radiotherapy for prostate
            cancer
  JOURNAL   Int J Radiat Oncol Biol Phys 78 (5), 1292-1300 (2010)
   PUBMED   20932654
REFERENCE   10 (bases 1 to 1710)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157936.12 and AL353768.28.
            
            Summary: This gene encodes a member of the M1 zinc aminopeptidase
            family. The encoded protein is a zinc-dependent metallopeptidase
            that catalyzes the removal of an amino acid from the amino terminus
            of a protein or peptide. This protein may play a role in the
            generation of angiotensin IV. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2010].
            
            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.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AL157936.12        87173-87225         c
            54-220              AL157936.12        40756-40922         c
            221-374             AL157936.12        21006-21159         c
            375-620             AL157936.12        12922-13167         c
            621-810             AL353768.28        20784-20973
            811-917             AL353768.28        25223-25329
            918-1710            AL353768.28        31362-32154
FEATURES             Location/Qualifiers
     source          1..1710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..1710
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="aminopeptidase O (putative)"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
     exon            1..53
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            54..220
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..924
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="isoform 12 is encoded by transcript variant 15"
                     /codon_start=1
                     /product="aminopeptidase O isoform 12"
                     /protein_id="NP_001373002.1"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
                     /translation="MSTWQATVRAAASFVVLMSGENSAKPTQLWEECSSWYYYVTMPM
                     PASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASA
                     TTQEIIPHRVFAPVCLTGACQETLLRLIPPCLSAAHSVLGAHPFSRLDVLIVPANFPS
                     LGMASPHIMFLSQSILTGGNHLCGTRLCHEIAHAWFGLAIGARDWTEEWLSEGFATHL
                     EDVFWATAQQLAPYEAREQQELRACLRWRRLQDEMQCSPEEMQVLSS"
     exon            221..374
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            375..620
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            621..810
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            811..917
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1710
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1685..1690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="hexamer: ATTAAA"
     polyA_site      1710
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="major polyA site"
ORIGIN      
        1 gtagtaaccc cgagtctgcg gaagtggtga cccgtgggac gcggctgaga caggccatgt
       61 gtttatactg tgggatctcc cataaacaac agggcccttt ttccatgcca ggagccaccc
      121 gttgccatgt caacatggca ggctacagtt cgagcagctg catcttttgt tgttttaatg
      181 agtggggaaa attctgccaa accaacgcag ctttgggaag agtgctcaag ctggtattac
      241 tatgtaacta tgccaatgcc agcctccacc ttcacaattg cagtgggatg ctggacagaa
      301 atgaagatgg agacatggtc atcaaatgat ttggcaacag agagaccctt ctcaccttct
      361 gaggccaact tcaggcatgt tggtgtttgc agtcacatgg aatacccctg ccgcttccag
      421 aatgcttctg ccaccaccca ggagatcatt cctcatcggg tctttgcccc tgtgtgcctc
      481 acgggtgcct gccaagagac ccttctgcgg ctgatccctc cttgcctctc agcagcacat
      541 tctgttctgg gagcacaccc gttctctcgg ctggatgttc tcatcgtccc tgccaacttt
      601 ccaagtctgg ggatggccag cccacacatc atgttcctct ctcagagcat cttgacagga
      661 gggaaccatc tctgtgggac ccgcctctgc catgaaattg cccatgcctg gtttggccta
      721 gccatcgggg cccgagactg gacggaggag tggctgagtg aaggcttcgc cactcacttg
      781 gaggatgtgt tttgggccac agcacagcag ctggccccct atgaggcccg ggagcagcag
      841 gagctgaggg cttgtctgcg ctggcgtcgc ctccaggacg agatgcaatg ctcccccgag
      901 gagatgcagg tgttaagctc ttaagaactt ccagtcctct ggaatctgct ttctgctctc
      961 accagtacag gaaaactgtt ttttccttgg ctcattgtgc cctgacagtc accagattat
     1021 ggaagcaaat tttattttta atcttttgag actcttctgc tttgtttggt actgttgaca
     1081 gctcttctgg aagtttttgt cactggcttt tgtggcagtc cctcacctga ttcttcttgc
     1141 cctctgtcat tcctcctcca tctccttcga ggtctgccct ttgcctgcct gtgtcttcag
     1201 agctgatctt cctcggggcc tccacactcg gctgcgtgtc ctcccagagt ggtctcatct
     1261 aaacccccat cttaggtggg agtctccagg tgcagaccct gatgcaaggg gtatgggaaa
     1321 gagatttatt aggaattgtt ctgatacggg ttggctgtgt gtccccgccc aaatctcatg
     1381 ttgaattgta atccccagtg ttggaggtgg ggcctggcgg gaggtgactg gatcacagag
     1441 gtggtttgtc atggtttaac accatccccc cttggtgctg tggtcacaat agtgagtgag
     1501 ttctcatgag ctctggttat ttaaaagtgt gtggcacctt cctccaccaa ctgtctccct
     1561 cccgccccag ccatgtaaga tgtcctgctt cccctttgcc ttctgccata attgtaagtt
     1621 tcctgaggcc tccgagcagg tgacagcatc atgcttcctg tacaacctgc agaaccgtga
     1681 gccaattaaa cctcttttat ttataaatta
//
