LOCUS       NM_001386072            2642 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens aminopeptidase O (putative) (AOPEP), transcript
            variant 14, mRNA.
ACCESSION   NM_001386072 XM_011519129
VERSION     NM_001386072.1
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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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 2642)
  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.
            
            On Aug 6, 2020 this sequence version replaced XM_011519129.2.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.2944615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AL157936.12        87173-87225         c
            54-985              AL157936.12        53344-54275         c
            986-1152            AL157936.12        40756-40922         c
            1153-1306           AL157936.12        21006-21159         c
            1307-1552           AL157936.12        12922-13167         c
            1553-1742           AL353768.28        20784-20973
            1743-1849           AL353768.28        25223-25329
            1850-2642           AL353768.28        31362-32154
FEATURES             Location/Qualifiers
     source          1..2642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..2642
                     /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..985
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1856
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="isoform 11 is encoded by transcript variant 14"
                     /codon_start=1
                     /product="aminopeptidase O isoform 11"
                     /protein_id="NP_001373001.1"
                     /db_xref="GeneID:84909"
                     /db_xref="HGNC:HGNC:1361"
                     /db_xref="MIM:619600"
                     /translation="MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIV
                     LFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAIC
                     SKGEKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVD
                     VAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCSQAPGCGEL
                     LFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPI
                     NNRALFPCQEPPVAMSTWQATVRAAASFVVLMSGENSAKPTQLWEECSSWYYYVTMPM
                     PASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASA
                     TTQEIIPHRVFAPVCLTGACQETLLRLIPPCLSAAHSVLGAHPFSRLDVLIVPANFPS
                     LGMASPHIMFLSQSILTGGNHLCGTRLCHEIAHAWFGLAIGARDWTEEWLSEGFATHL
                     EDVFWATAQQLAPYEAREQQELRACLRWRRLQDEMQCSPEEMQVLSS"
     exon            986..1152
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1306
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1552
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1742
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1743..1849
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..2642
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2617..2622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="hexamer: ATTAAA"
     polyA_site      2642
                     /gene="AOPEP"
                     /gene_synonym="AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP"
                     /note="major polyA site"
ORIGIN      
        1 gtagtaaccc cgagtctgcg gaagtggtga cccgtgggac gcggctgaga caggagactg
       61 aaaggaacca taatttgtga catcagttgt tttctttgat aagcagctat ttatgattct
      121 ggaagattaa ggcagatagg aaaccccatc tgagatttta ataaatccct caaacaataa
      181 accacatcat ggacatacag ctggaccctg ccagagatga cctgcctctc atggccaaca
      241 ccagccacat acttgtgaag cactatgtac tggatttgga tgtggatttt gaaagtcaag
      301 tcattgaggg gaccatagtg cttttcctcg aggatggaaa cagattcaag aaacagaata
      361 gctctattga ggaagcctgc caatcagaat caaacaaagc ctgcaaattt gggatgcctg
      421 aaccctgcca tattcccgtg acaaatgcaa ggaccttctc atctgaaatg gaatataatg
      481 attttgcaat ctgtagtaaa ggtgaaaaag atacttctga taaagatggt aaccatgaca
      541 accaggaaca tgcttctggg atttctagct caaagtactg ctgtgacaca gggaatcatg
      601 ggagtgagga ttttttgcta gtgttggact gctgtgattt atctgtgtta aaagtcgagg
      661 aggtggatgt tgctgctgtg ccaggtctgg aaaaatttac aaggtctcct gagctcacgg
      721 ttgtttctga ggagttcagg aatcagattg tacgtgaact tgtgactttg cctgcaaatc
      781 gttggaggga gcagttagac tattacgctc gctgcagcca ggctcctggc tgtggggaac
      841 tcctctttga cactgacact tggagcttgc agataaggaa gacaggggct cagacagcta
      901 ctgactttcc tcatgctatc aggatatggt acaaaactaa acctgaaggg cgatcggtta
      961 catggacctc agaccagagt ggcaggccat gtgtttatac tgtgggatct cccataaaca
     1021 acagggccct ttttccatgc caggagccac ccgttgccat gtcaacatgg caggctacag
     1081 ttcgagcagc tgcatctttt gttgttttaa tgagtgggga aaattctgcc aaaccaacgc
     1141 agctttggga agagtgctca agctggtatt actatgtaac tatgccaatg ccagcctcca
     1201 ccttcacaat tgcagtggga tgctggacag aaatgaagat ggagacatgg tcatcaaatg
     1261 atttggcaac agagagaccc ttctcacctt ctgaggccaa cttcaggcat gttggtgttt
     1321 gcagtcacat ggaatacccc tgccgcttcc agaatgcttc tgccaccacc caggagatca
     1381 ttcctcatcg ggtctttgcc cctgtgtgcc tcacgggtgc ctgccaagag acccttctgc
     1441 ggctgatccc tccttgcctc tcagcagcac attctgttct gggagcacac ccgttctctc
     1501 ggctggatgt tctcatcgtc cctgccaact ttccaagtct ggggatggcc agcccacaca
     1561 tcatgttcct ctctcagagc atcttgacag gagggaacca tctctgtggg acccgcctct
     1621 gccatgaaat tgcccatgcc tggtttggcc tagccatcgg ggcccgagac tggacggagg
     1681 agtggctgag tgaaggcttc gccactcact tggaggatgt gttttgggcc acagcacagc
     1741 agctggcccc ctatgaggcc cgggagcagc aggagctgag ggcttgtctg cgctggcgtc
     1801 gcctccagga cgagatgcaa tgctcccccg aggagatgca ggtgttaagc tcttaagaac
     1861 ttccagtcct ctggaatctg ctttctgctc tcaccagtac aggaaaactg ttttttcctt
     1921 ggctcattgt gccctgacag tcaccagatt atggaagcaa attttatttt taatcttttg
     1981 agactcttct gctttgtttg gtactgttga cagctcttct ggaagttttt gtcactggct
     2041 tttgtggcag tccctcacct gattcttctt gccctctgtc attcctcctc catctccttc
     2101 gaggtctgcc ctttgcctgc ctgtgtcttc agagctgatc ttcctcgggg cctccacact
     2161 cggctgcgtg tcctcccaga gtggtctcat ctaaaccccc atcttaggtg ggagtctcca
     2221 ggtgcagacc ctgatgcaag gggtatggga aagagattta ttaggaattg ttctgatacg
     2281 ggttggctgt gtgtccccgc ccaaatctca tgttgaattg taatccccag tgttggaggt
     2341 ggggcctggc gggaggtgac tggatcacag aggtggtttg tcatggttta acaccatccc
     2401 cccttggtgc tgtggtcaca atagtgagtg agttctcatg agctctggtt atttaaaagt
     2461 gtgtggcacc ttcctccacc aactgtctcc ctcccgcccc agccatgtaa gatgtcctgc
     2521 ttcccctttg ccttctgcca taattgtaag tttcctgagg cctccgagca ggtgacagca
     2581 tcatgcttcc tgtacaacct gcagaaccgt gagccaatta aacctctttt atttataaat
     2641 ta
//
