LOCUS       NM_152326               6705 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ankyrin repeat domain 9 (ANKRD9), transcript variant
            2, mRNA.
ACCESSION   NM_152326
VERSION     NM_152326.4
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 6705)
  AUTHORS   Hayward,D., Kouznetsova,V.L., Pierson,H.E., Hasan,N.M.,
            Guzman,E.R., Tsigelny,I.F. and Lutsenko,S.
  TITLE     ANKRD9 is a metabolically-controlled regulator of IMPDH2 abundance
            and macro-assembly
  JOURNAL   J Biol Chem 294 (39), 14454-14466 (2019)
   PUBMED   31337707
  REMARK    GeneRIF: ANKRD9 regulates IMPDH2 abundance and macro-assembly in
            response to metabolic changes.
REFERENCE   2  (bases 1 to 6705)
  AUTHORS   Lee,Y., Lim,B., Lee,S.W., Lee,W.R., Kim,Y.I., Kim,M., Ju,H.,
            Kim,M.Y., Kang,S.J., Song,J.J., Lee,J.E. and Kang,C.
  TITLE     ANKRD9 is associated with tumor suppression as a substrate receptor
            subunit of ubiquitin ligase
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1864 (10), 3145-3153 (2018)
   PUBMED   30293565
  REMARK    GeneRIF: show that ANKRD9 is genetically and functionally
            associated with tumor suppression by acting as a substrate receptor
            subunit of a CUL5-based E3 ubiquitin ligase that ubiquitinates
            substrate proteins as IMPDH2 and presumably IMPDH1, marking them
            for proteasomal degradation and turnover. Furthermore, ANKRD9
            accomplishes its anti-proliferative and tumor-suppressive function
            via IMPDH2 degradation.
REFERENCE   3  (bases 1 to 6705)
  AUTHORS   Arking,D.E., Pulit,S.L., Crotti,L., van der Harst,P., Munroe,P.B.,
            Koopmann,T.T., Sotoodehnia,N., Rossin,E.J., Morley,M., Wang,X.,
            Johnson,A.D., Lundby,A., Gudbjartsson,D.F., Noseworthy,P.A.,
            Eijgelsheim,M., Bradford,Y., Tarasov,K.V., Dorr,M.,
            Muller-Nurasyid,M., Lahtinen,A.M., Nolte,I.M., Smith,A.V.,
            Bis,J.C., Isaacs,A., Newhouse,S.J., Evans,D.S., Post,W.S.,
            Waggott,D., Lyytikainen,L.P., Hicks,A.A., Eisele,L., Ellinghaus,D.,
            Hayward,C., Navarro,P., Ulivi,S., Tanaka,T., Tester,D.J.,
            Chatel,S., Gustafsson,S., Kumari,M., Morris,R.W., Naluai,A.T.,
            Padmanabhan,S., Kluttig,A., Strohmer,B., Panayiotou,A.G.,
            Torres,M., Knoflach,M., Hubacek,J.A., Slowikowski,K.,
            Raychaudhuri,S., Kumar,R.D., Harris,T.B., Launer,L.J.,
            Shuldiner,A.R., Alonso,A., Bader,J.S., Ehret,G., Huang,H.,
            Kao,W.H., Strait,J.B., Macfarlane,P.W., Brown,M., Caulfield,M.J.,
            Samani,N.J., Kronenberg,F., Willeit,J., Smith,J.G., Greiser,K.H.,
            Meyer Zu Schwabedissen,H., Werdan,K., Carella,M., Zelante,L.,
            Heckbert,S.R., Psaty,B.M., Rotter,J.I., Kolcic,I., Polasek,O.,
            Wright,A.F., Griffin,M., Daly,M.J., Arnar,D.O., Holm,H.,
            Thorsteinsdottir,U., Denny,J.C., Roden,D.M., Zuvich,R.L.,
            Emilsson,V., Plump,A.S., Larson,M.G., O'Donnell,C.J., Yin,X.,
            Bobbo,M., D'Adamo,A.P., Iorio,A., Sinagra,G., Carracedo,A.,
            Cummings,S.R., Nalls,M.A., Jula,A., Kontula,K.K., Marjamaa,A.,
            Oikarinen,L., Perola,M., Porthan,K., Erbel,R., Hoffmann,P.,
            Jockel,K.H., Kalsch,H., Nothen,M.M., den Hoed,M., Loos,R.J.,
            Thelle,D.S., Gieger,C., Meitinger,T., Perz,S., Peters,A.,
            Prucha,H., Sinner,M.F., Waldenberger,M., de Boer,R.A., Franke,L.,
            van der Vleuten,P.A., Beckmann,B.M., Martens,E., Bardai,A.,
            Hofman,N., Wilde,A.A., Behr,E.R., Dalageorgou,C., Giudicessi,J.R.,
            Medeiros-Domingo,A., Barc,J., Kyndt,F., Probst,V., Ghidoni,A.,
            Insolia,R., Hamilton,R.M., Scherer,S.W., Brandimarto,J.,
            Margulies,K., Moravec,C.E., del Greco,M. F, Fuchsberger,C.,
            O'Connell,J.R., Lee,W.K., Watt,G.C., Campbell,H., Wild,S.H., El
            Mokhtari,N.E., Frey,N., Asselbergs,F.W., Mateo Leach,I., Navis,G.,
            van den Berg,M.P., van Veldhuisen,D.J., Kellis,M., Krijthe,B.P.,
            Franco,O.H., Hofman,A., Kors,J.A., Uitterlinden,A.G.,
            Witteman,J.C., Kedenko,L., Lamina,C., Oostra,B.A., Abecasis,G.R.,
            Lakatta,E.G., Mulas,A., Orru,M., Schlessinger,D., Uda,M.,
            Markus,M.R., Volker,U., Snieder,H., Spector,T.D., Arnlov,J.,
            Lind,L., Sundstrom,J., Syvanen,A.C., Kivimaki,M., Kahonen,M.,
            Mononen,N., Raitakari,O.T., Viikari,J.S., Adamkova,V., Kiechl,S.,
            Brion,M., Nicolaides,A.N., Paulweber,B., Haerting,J.,
            Dominiczak,A.F., Nyberg,F., Whincup,P.H., Hingorani,A.D.,
            Schott,J.J., Bezzina,C.R., Ingelsson,E., Ferrucci,L., Gasparini,P.,
            Wilson,J.F., Rudan,I., Franke,A., Muhleisen,T.W., Pramstaller,P.P.,
            Lehtimaki,T.J., Paterson,A.D., Parsa,A., Liu,Y., van Duijn,C.M.,
            Siscovick,D.S., Gudnason,V., Jamshidi,Y., Salomaa,V., Felix,S.B.,
            Sanna,S., Ritchie,M.D., Stricker,B.H., Stefansson,K., Boyer,L.A.,
            Cappola,T.P., Olsen,J.V., Lage,K., Schwartz,P.J., Kaab,S.,
            Chakravarti,A., Ackerman,M.J., Pfeufer,A., de Bakker,P.I. and
            Newton-Cheh,C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for
            calcium signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   4  (bases 1 to 6705)
  AUTHORS   Malinouski,M., Hasan,N.M., Zhang,Y., Seravalli,J., Lin,J.,
            Avanesov,A., Lutsenko,S. and Gladyshev,V.N.
  TITLE     Genome-wide RNAi ionomics screen reveals new genes and regulation
            of human trace element metabolism
  JOURNAL   Nat Commun 5, 3301 (2014)
   PUBMED   24522796
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX161460.1, AL136293.5 and AW138815.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152326.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All three variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX161460.1, BX354128.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2152474
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286918.9/ ENSP00000286918.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1611              BX161460.1         16-1626
            1612-4744           AL136293.5         82468-85600         c
            4745-4823           AW138815.1         17-95               c
            4824-6705           AL136293.5         80507-82388         c
FEATURES             Location/Qualifiers
     source          1..6705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.31"
     gene            1..6705
                     /gene="ANKRD9"
                     /note="ankyrin repeat domain 9"
                     /db_xref="GeneID:122416"
                     /db_xref="HGNC:HGNC:20096"
                     /db_xref="MIM:618605"
     exon            1..248
                     /gene="ANKRD9"
                     /inference="alignment:Splign:2.1.0"
     exon            249..454
                     /gene="ANKRD9"
                     /inference="alignment:Splign:2.1.0"
     exon            455..529
                     /gene="ANKRD9"
                     /inference="alignment:Splign:2.1.0"
     exon            530..6705
                     /gene="ANKRD9"
                     /inference="alignment:Splign:2.1.0"
     CDS             583..1536
                     /gene="ANKRD9"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 9"
                     /protein_id="NP_689539.1"
                     /db_xref="CCDS:CCDS9973.1"
                     /db_xref="GeneID:122416"
                     /db_xref="HGNC:HGNC:20096"
                     /db_xref="MIM:618605"
                     /translation="MPWDARRPGGGADGGPEASGAARSRAQKQCRKSSFAFYQAVRDL
                     LPVWLLEDMRASEAFHWDERGRAAAYSPSEALLYALVHDHQAYAHYLLATFPRRALAP
                     PSAGFRCCAAPGPHVALAVRYNRVGILRRILRTLRDFPAEERARVLDRRGCSRVEGGG
                     TSLHVACELARPECLFLLLGHGASPGLRDGGGLTPLELLLRQLGRDAGATPSAAGAPA
                     SAPGEPRQRRLLLLDLLALYTPVGAAGSARQELLGDRPRWQRLLGEDKFQWLAGLAPP
                     SLFARAMQVLVTAISPGRFPEALDELPLPPFLQPLDLTGKG"
     polyA_site      1627
                     /gene="ANKRD9"
                     /note="major polyA site"
     regulatory      4799..4804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD9"
                     /note="hexamer: AATAAA"
     polyA_site      4823
                     /gene="ANKRD9"
                     /note="major polyA site"
     regulatory      6686..6691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD9"
                     /note="hexamer: AATAAA"
     polyA_site      6705
                     /gene="ANKRD9"
ORIGIN      
        1 ctgcctggcc ggggccgcac tgcgccgccc gccgcccgcc gcccgccgcc cgccgccggc
       61 gacggcaccg ccgccctgcg atccggccgc ggcggctcag agcgcggctg cggcgggcgc
      121 gggcggcggt ggctccctcc cgtgcgtccg tcgtgggacc tttgcccgct cgcccgcggg
      181 ggacagcgcg cgctccggtc cgcggcaggg gcggggacgc ccggcctgtg gcccccgcgc
      241 cccccatggc ctggctctgc cgtggcttgc tgaccttgga gaattggaga agcttgtgcc
      301 ctgctggaaa gtgggatggc agtacccgct tcatctagta gtcggggaga tcaagagagg
      361 tatgggacct gaagaggatg gcagactgtg cagtgcggtg cacaccggtc tccaggttgt
      421 tttcaccctc ctatctcctc ccaggagcta acgtataaag ctgaggctcg gccagggact
      481 gtgatatacc cacatccccg gaactaggtg atcgcggtgc aggaaccagg tgtgccttcg
      541 cgggatccat gccttgaggc ccaggaacgc cccgccgcca gcatgccgtg ggacgcgcgg
      601 cggcctgggg gtggcgcgga cggcgggccc gaggcctcgg gcgcggcgcg ctcgcgagcg
      661 cagaagcagt gccgcaagtc gtcgttcgcc ttctaccagg cggtgcgcga cctgctaccc
      721 gtgtggctgc tggaggatat gcgcgccagc gaggccttcc actgggacga gcgcgggcgc
      781 gccgccgcct actcgccctc tgaggcgctg ctctacgcgc tcgtgcacga ccaccaagcg
      841 tacgcgcatt acctgctggc cacgttcccg cggcgcgcgc tcgcaccgcc cagtgccggc
      901 ttccgctgct gcgcggctcc cgggccgcac gtggcgctgg cagtgcgcta caaccgcgtg
      961 ggcattctgc gccgcatcct gcgcaccttg cgcgacttcc cggccgagga gcgggcgcgc
     1021 gtgctggacc ggcgtggctg cagccgcgtg gagggcggtg gcacgtcgct gcacgtggcc
     1081 tgtgagctgg cgcgccccga gtgcctcttc ctgctgctgg gccacggcgc ctcgcccggt
     1141 ctgcgggacg gcggcggcct cacgcctctc gagctgctgc tgcgccagct gggccgcgac
     1201 gccggggcca ctccctccgc cgccggagcc cccgcctcag ctcccgggga gccgcgccag
     1261 cgccgcctgc tgctgctgga cctcctggcg ctgtacaccc ccgtgggtgc cgccggctcg
     1321 gcccgccagg agctgctggg cgaccggccg cgctggcagc ggctgctggg tgaggacaag
     1381 ttccagtggc tggcgggcct ggcgccgccc tcgctcttcg cgcgcgccat gcaggtgctg
     1441 gtcaccgcca tctctccagg ccgcttcccc gaggccctgg acgagctgcc gctgccccca
     1501 ttcctgcagc cgttggacct cactggcaaa ggctaggccc ggagcaccct aggcgctgga
     1561 ttttgggaca aaactatttt tcagagcgtt gtaccggcac tttatatata ttgatctctg
     1621 tacggcacaa tctctgcctc atctgtcgca tgcactgggg gctgggcttg gatggtcagg
     1681 tgagttccaa gtggcaggtt ttctgggtgc agctgggctc gggccttcag ctcgctgtcc
     1741 agcccctgaa gggagtgagg actaacctcc caccttgatc tagagcctcg gacaggtgtg
     1801 cgtcccagat gggtgacagc tgagtgccgc aggagctcgg taggtgcagg ggtggggact
     1861 ggcatgtcca agcagcagga cagcgtataa aaaggcctgg aagccaagag aacgagctct
     1921 gcagcgtagg gttctcacgg gaggtcctgt gcggtcagcc ttttgcaccc tgtggactcc
     1981 gggccaggga gggcacacag ggctggcagg cccgcggtgg ctggtgttga ggcatgaaca
     2041 aattgtaccg ggtatccccc accccactct gaccaccagt tcctccttgg atatcactcc
     2101 ccctgacagg cagcccaccc aggcctggat ttgtccctgt ctcccccttt tgcttttccc
     2161 ccatgactaa tgggcaccag gtcttgctgc tcctgcttct cacctctgca gtggcagcag
     2221 gcccctggcc ccaggtgcat gccggtcagt ggggttggat gtgccttcct ccaggcctgc
     2281 cctctgtcca agcccggagt gggcttggtg ggctccctgg tggcccccag tgggtgccag
     2341 gtggtgcccg gggttattga ggggtggttg tatcactgta gggacaggct tcttgcccca
     2401 gcctggagag ctgttttctt caggaaggtt ctggagatgg agacttgttt gcgaattcac
     2461 cacaactcca ggctgggagg ctgggtctcc gctctcagag ccgagacacc agggaggata
     2521 gccaggctgc cctgcctggg aattctgctg ggccgtcaaa ttcaacccgc accaacgtgg
     2581 gcaggagggc cacagtgtcc tgccaggagc agagggctga aggtctgcag gaggaagaac
     2641 cactatcctg gtggggggca cctgctgccc accctgcccc cagcgtgcct ggggggagca
     2701 cacctgggca tggaggagtc cagggtgctg ggccacacaa gagaggtggg ggagaggcct
     2761 ggacagtagg aagatcttgc ccagggtcct ggatccgcca ctctgggggt gaccttggac
     2821 aaacctctgc cttggccctc agtctcccca tcaaggtttt tccattcagg aggttttggg
     2881 ccatcttcag ccaccctacc agccctgaaa aggatgtgac tcctgtttct gggaagtgtg
     2941 tggtgtgtta ggtgggccta cagccctggt tgtggggagg gaaggatgga gagacagcac
     3001 agtgacagag cccagactgc aggctggagt gagggttcca cttccccgct gctgtgtgtc
     3061 ctggaccagt gcctctgaac cttggcactt ggggcagtgg atattaacat ctttccaagc
     3121 ccaattcttg gggcatcagg gcctccggtc ctctgggagg tggcaggtcc tcagattgga
     3181 gatgccatgg gggggggagg tgcctctcct ttggagggta tggaagtgga gacaggagtg
     3241 gcctggcgca gctgccgtgg ttcttagggg ctgggcccgg ggagcccatg gggcttgtgc
     3301 ctagaaagcc tgggctcctc actggggtct agatgtgcag acttcatgtc tccccagctc
     3361 cagctctgtt ctctataggt cagcctccac aatgccagag gcccagggct agccccctcc
     3421 acgtccctcc tagatctaca gctgcccctt tgatgacagc gccattgagt cccctgggct
     3481 gggggggtca tgcaggggtg aggcagctgc ctgccgccgg tactcattgc ctggccaggc
     3541 aggacacagg ctggcgggca ctgagagtgg gccccacgaa atccattgtc aggttaccag
     3601 gatgaagaac ccaggctggt cgtggagtgc agggcggggc ctgccggaag aattatgggc
     3661 actgcagcag gagggcagcc tgggccatta gctcctgatg tcatcgattt gggtgagggg
     3721 acagggaagt cagaggaagc tggccagtgg ctctcacgaa gacttacagc agcggagtgg
     3781 tgcctgattc ctagtacagc tgctcccact gagtctccag ggatctgtgg ttcaggaccc
     3841 cctgcaaccc cctcccagac ccctgtactg gtgggaggag aggacctaga ggaaaggtgc
     3901 tgggcagata agcagccgag ggaggccctg ggtttagctt atcagtcttc tgggccctcc
     3961 tgccccagga agggcagcga ggaccatggt gttgcccctg tcatcgttat cgtcctggcc
     4021 atgagcttgc aggactggga gggccggagt cagccaggca gacggcagca cagcatttgc
     4081 ctgttggcag gtggccttgg tggcttccca aaggcaatcg ctccacgcag aacaaaactc
     4141 acttttttgg ggggtgaagc accttggttc atttgtttag ttcgttaatt ccagcagtct
     4201 gtttctaagg gaaacatggc tgcagccggt cctgcccctc cacccaccca ccaggtgccc
     4261 agtgttccca agggccccga atcccaacct tattcaggcg tcagcatctc tgcaccccaa
     4321 atgcctgtta gggaggatag tgaaggctga gccctcctgg gctcatcaaa agccagcagt
     4381 gagagaacac ccccatctct ctgaggtgac cttgtagggc agtccgtgct gtctggctgg
     4441 cctgggtgag gtgggcaggg accaaggcct ggcgcctggg cctcgctggc cttgctctgc
     4501 gtgctgactt catcctgata gtaccttgat tttcctactg tgacttcccc ttctgtcgac
     4561 ttcctcacca actttaaaat tccgtattga gagcagtttc ctaagttacc tcaaatccta
     4621 ttcagaagaa ggttcttcct ggaagttggg agggcggaaa acaagtttag tcacagaaga
     4681 ctactccatg tttgagcttc tgtttcaagg gaagtgagta actgccggag gagccctgcc
     4741 cctctgcagt gtgtggtgtt gccctgatac ttttcagatt gaggtgttac ttacatgtaa
     4801 taaaatgcac agacttaagt gtatactttg atgagttctg atgaatgtct acatgtgtgt
     4861 aatcaccact gcaatcaaga tggaaggaaa ggctgggcgc ggtggctcac acctgtaatc
     4921 ccagcacttt gggaggccaa ggtgggtgga tcatgaggtc aggagttcga gaccagcctg
     4981 accaacatga tgaaaccccg tctctactaa aaataaaaaa attagccagg cgtggtggca
     5041 ggcacctgta ctcccagcta ctcaggaggc tgaggcagga gaattgcttg aacccaggag
     5101 gcggaggttg cagtgagcca agattgcgcc attgcactcc agcctgggcg acagagcaag
     5161 actccatctc aaaaaaaaaa aaaaaaaaga tggaaagaca gatttctatt ggtgattctt
     5221 aaaagtaatt tatttattta tgtatttatt tatttatttg agatgtagtc ttgctctgtc
     5281 atccagactg gagtgcaatg gtgtggtctc agctcactgt aacttccgcc tcctgggttc
     5341 aagcgattct cctgcctcag cctctggagt agctgggatt acaggcgctg gccaccacgc
     5401 ccggctaatt tttgtatttg tagtagagac tgggtttcag catgttggcc aggcaggtct
     5461 cgaactcctg accttgtgat ccgcccgcct cagcctccca aagtgctggg gttacaagtg
     5521 tgagccactg cgcctggctc ttaaaagtaa tttctttctg cttataaaat tcatgttcac
     5581 tgtagaacac tggggattga gtagagaggt ccggccacga tgcagggaaa cactgtctca
     5641 agcgccccac cgccccacat ggtccccaga gacagggccc ctaagcgctc acgtacaagt
     5701 aaaggcgctg actgagtgcg tcatctgcac gcatacaagc actgctagca ttctggcata
     5761 tgtttctttc agcttttttc tgtgcagata tatattacat ttttttctgt gtatatttat
     5821 atatatatga aaccagatca gttacacaat ttagtatttt tttaacctta atgtagtata
     5881 agcatttccc ccattgtact ttgtaaatat gatttttaag aagtcattgg tgtctacttt
     5941 gtgatatttg actcaaccag ccttgataac aaagagtagt tagagacaac tgaattttta
     6001 aaatgtaaat ctgctttatt tttggaataa ataatacatt tacatggctg gaaattcaaa
     6061 ggatacaaaa aggcatatac tccaggcaac cactatgacc agctgctgat cacaagtaga
     6121 gaacttgttt cttttcaccc ctcttgctcc tccccggagt tatgaaaaat ttcaaacctg
     6181 ccaaaagttt gaagtttaca acaaataccc tccaacgttt gggttgtctc cctccccctt
     6241 ctctcccttt ctccctctga tttcttacag aaccacgctt tcatgaccat gcccgggaac
     6301 ttcacgctgg cgcggtgagg tcctgcgcct ccgcttcctg cacacacgtg cttcttaata
     6361 gctgcaggct atttcatgag aggaatttgc tcacgttaac atggctgttc ccaaatgcca
     6421 ggctgtttta agtgtttcct aattataaac aggctgtgct gtttcccttg acctaggact
     6481 tgttcttgag gacagaagtg gaggtggcga gatgcaaggc ctacgtacgg accggcttcc
     6541 ccagtagggc ggcgccaatg gggggctccc aagctgctcc catctcacct ctgcttccgg
     6601 ggtgctgggg gtttgggcca gtgttccttc tgcttttgtg aagggccctt acactcgact
     6661 cgaagtgctc ctcctattgg tttttaataa atatatttat ggaaa
//
