LOCUS       NM_052855               4166 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.
ACCESSION   NM_052855
VERSION     NM_052855.4
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 4166)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 4166)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4166)
  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   4  (bases 1 to 4166)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4166)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 4166)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (bases 1 to 4166)
  AUTHORS   Sakai,Y., Shaw,C.A., Dawson,B.C., Dugas,D.V., Al-Mohtaseb,Z.,
            Hill,D.E. and Zoghbi,H.Y.
  TITLE     Protein interactome reveals converging molecular pathways among
            autism disorders
  JOURNAL   Sci Transl Med 3 (86), 86ra49 (2011)
   PUBMED   21653829
REFERENCE   8  (bases 1 to 4166)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 4166)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005921.3 and BC012978.2.
            
            On Nov 22, 2018 this sequence version replaced NM_052855.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR627413.1, SRR1803614.11348.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162328, SAMN03267760
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285243.7/ ENSP00000285243.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC005921.3         41326-41330         c
            6-237               AC005921.3         41094-41325         c
            238-2042            BC012978.2         225-2029
            2043-4166           AC005921.3         26614-28737         c
FEATURES             Location/Qualifiers
     source          1..4166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..4166
                     /gene="ANKRD40"
                     /note="ankyrin repeat domain 40"
                     /db_xref="GeneID:91369"
                     /db_xref="HGNC:HGNC:28233"
     exon            1..394
                     /gene="ANKRD40"
                     /inference="alignment:Splign:2.1.0"
     CDS             261..1367
                     /gene="ANKRD40"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 40"
                     /protein_id="NP_443087.1"
                     /db_xref="CCDS:CCDS11572.1"
                     /db_xref="GeneID:91369"
                     /db_xref="HGNC:HGNC:28233"
                     /translation="MNALLEQKEQQERLREAAALGDIREVQKLVESGVDVNSQNEVNG
                     WTCLHWACKRNHGQVVSYLLKSGADKEILTTKGEMPVQLTSRREIRKIMGVEEEDDDD
                     DDDDNLPQLKKESELPFVPNYLANPAFPFIYTPTAEDSAQMQNGGPSTPPASPPADGS
                     PPLLPPGEPPLLGTFPRDHTSLALVQNGDVSAPSAILRTPESTKPGPVCQPPVSQSRS
                     LFSSVPSKPPMSLEPQNGTYAGPAPAFQPFFFTGAFPFNMQELVLKVRIQNPSLREND
                     FIEIELDRQELTYQELLRVCCCELGVNPDQVEKIRKLPNTLLRKDKDVARLQDFQELE
                     LVLMISENNFLFRNAASTLTERPCYNRRASKLTY"
     exon            395..543
                     /gene="ANKRD40"
                     /inference="alignment:Splign:2.1.0"
     exon            544..1038
                     /gene="ANKRD40"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1220
                     /gene="ANKRD40"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..4166
                     /gene="ANKRD40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4144..4149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD40"
                     /note="hexamer: ATTAAA"
     polyA_site      4166
                     /gene="ANKRD40"
                     /note="major polyA site"
ORIGIN      
        1 gaacagggtc ccccggagcc ggccttcggg aggcgcggcc cgggaggagg cctgggcctg
       61 cgggccggga gcagcagggg cggcccgcgg gagggagcgg aagtcccggg gcgggcgcgg
      121 gcagcggcgc gagcagggcg ggcgagttcc gcgctccctc cccatggccg ggagcgggcc
      181 gcggcgacgg cggcggcgct gacaggcccc gggcggggcg gggcaggcgg gcctgggcgg
      241 gggcctgggg ctgtgggaag atgaacgccc tcctagagca gaaggagcag caggagaggc
      301 tgcgggaggc cgcggcctta ggggacattc gggaggtgca gaaactggtg gagagcgggg
      361 tggatgtgaa ctcccaaaat gaggtcaacg gctggacttg tttacactgg gcatgtaaac
      421 gaaaccatgg tcaggtggtc tcttacctgt taaaatcagg agctgacaaa gaaattctta
      481 ccacaaaagg agaaatgcca gtccagttaa catcaaggag agaaatcagg aagattatgg
      541 gagtggaaga agaagatgat gatgatgatg atgatgacaa cctcccccag ctgaagaagg
      601 agtcagaact gccctttgtt cccaactatt tggccaaccc agccttccct tttatctata
      661 cacccacagc agaggattca gcccagatgc agaatggggg cccctccaca ccccctgcat
      721 caccccctgc agatggctca cctccattgc ttccccctgg ggaacctccc ctgttaggga
      781 cctttccccg ggaccacacc tctttggcac tagttcagaa tggtgatgtg tcggccccct
      841 ctgccatact cagaacacca gaaagcacaa aaccgggtcc tgtttgtcag ccaccagtga
      901 gtcagagccg ctccctgttt tcttctgtcc cgtccaagcc accaatgtct ctggagcctc
      961 aaaatgggac gtatgcagga ccagcgccag cattccagcc atttttcttc actggagcat
     1021 ttccatttaa tatgcaagag ctggtactca aggtgagaat tcagaaccca tctcttcgag
     1081 aaaatgattt cattgaaatt gaactggacc gacaggagct cacctaccaa gagttgctca
     1141 gagtgtgttg ctgtgagctg ggtgttaatc cagatcaagt ggagaagatc agaaagttac
     1201 ccaatactct gttaaggaag gacaaggatg ttgctcgact ccaagatttc caggagctgg
     1261 aactggttct gatgataagt gaaaataatt ttctgttcag aaatgctgca tccacactga
     1321 ctgaaaggcc ttgctataac aggagagctt caaaactgac ttactaatgc agcagggact
     1381 tttatcactg agtattatga cagtgtgcat cacctctggg ccaaggacaa gccattgatc
     1441 taaatgcctc agatgcccgg gagggcctct ggtgccactg catagtatat actaacatca
     1501 ttctgccaag gtaggaagcc cctgaccccc aagcagtggt gccactcttc caagcctctt
     1561 ggtgcacagt aaacctattg cttgaagctt tgaacagctg agaagtggtc tggagaggca
     1621 gaagctgaag gttctatatc cagtgtgttt tatgtccaga atgtaagaga gttgtctaag
     1681 cagcagctga gagagagcgg agcctatttc tagccactcc tgttgacagt gcacctgaag
     1741 ggctgggatg cgtttttctt ggtgttgcat gctcacaact ctgctgacat tgggaactta
     1801 tgagagagga agactcggga aagcacagat actggacaga tggattctgg tgtggggaaa
     1861 gcacagatac tggacagatg gattctagtg tgacttgtga ctgtgaggtt tcctataaca
     1921 tatttataaa tgttactcag gttaaaagta tttaagaata cagttaacta attgtaaata
     1981 tgctgttaac caaaagagct ttccctccct cactttttcc tttgtaaaca ctcatgactg
     2041 cttctctgtc tcgagtcatc tctgcattaa ctccccttcg tggtcactag agggctctct
     2101 gatgccttct aaaagaacaa ctgctttttt acaatgcccc ccacccccac cccgcccata
     2161 gagacagggt ctcactatgt ggcccaggct ggtctcaaac ttctggcctt aagtgatgct
     2221 cctgtccttg gcctcccaaa gtgctgggat tacaggtgtg agccactgca cccagcccac
     2281 ttttttttta ctctgaagtg attccagtca tatgtgtgtg taactgcatc ctatgagaag
     2341 agcacaaata ttgctgttcc atgttctcca ctttcatttt ccactacaaa tgaaaagcaa
     2401 tttttgagac tgaatctgtt gctattttaa aggttattgt gggaaactga gctaaaggag
     2461 ttagcatctt tatttttgta tcaaaaataa aggttatttt gaaattatta ggatttttac
     2521 acaattctga aatctgttgc ttttgtaaac aaattgtttg atcttagtga tccccctact
     2581 actaccacca attcacttca caaagtcagt tatgagtcta ccagactttg ttctgaaaaa
     2641 tagaaacaaa acacctgatt aagctcttga gtatggcata ggaatttttt agaagaatgc
     2701 attcaaggat tcttttcctt tccttcagtg tcattaatgt taaaagagca gccactgttt
     2761 tgttgaaaca aacagcttaa cttcagaaat aagaactagc acacttagac aaacaggaga
     2821 gcaggggttt gaagccagct gtcgaagagc atccctgctg tcttaagaag ctttttcccc
     2881 atagtgccta tagtttccaa agaaactcaa cttcctaact gtgttaactt aattttatta
     2941 gaacactaca gttgagtgag aacgtgcaga agatgtcaac agaagagaat gttgtgctaa
     3001 gataatggcc tcctgctgct gcctaaatgc tgaaatgagg ttgagatgtt tttcaaggct
     3061 aacttcatgg actcactctg tttagtgact taattgtatc ccaccaatta ctgctggtga
     3121 cttactcacc cttgtacagt gtttgcatag cagagtgaag gttacttatt accctctttc
     3181 tctcaagtgc tttaaagaag aaacctccct ggtgtttctt ttcttttttt ttttgagacg
     3241 gagtcttgct ttgttgccca ggctgaagtg cagtggcata atctcagctc actgaaacct
     3301 ctgcctcccg ggttcaaacg attctcctgc ctcagcctcc caagtagctg ggattacaag
     3361 catgtgccac catgcccagc taatttctgt attttagtag agacaaggtt tcaccatgtt
     3421 ggccaggctg gtctcgaact cctggcctca agtgatccac ctgccttggc ctcccaaagt
     3481 gctccgatta caggtgtgag ccacccggcc cagcccctcc cttgtgtttc aaccaatcgg
     3541 aagtgaattt aactagatgt agtaaccttt tttttcttta cttctaaaac agttacagtt
     3601 tactaataaa gttaagtctg gttctgtcct agaggaaata aattcactat taattcatgt
     3661 cttaagttac ttgggttaaa acactttcag ccacccagat taattaaagt ggagcagtgg
     3721 agcccctggc tgggagatgg cctccagagg agcagctgca gggcatgttc tgggcttagc
     3781 gacagaggca agcaagggac tggtgtctct ggtgagaggt gggtttgatg tatctctgtc
     3841 ctatgctggt ctctcttctc ctttataaaa tcctctgtgg tcaactgact actgcgtatc
     3901 gcagtggaat aagactgcac agttgctggt aggtgagttt aaagtcttaa tctatgcatt
     3961 cagagaaata tttttatatg ctttgtgtaa tttataacaa ggattttttt tttagctttg
     4021 ttaactgtga attcacccct cctcctccac tgcatattta aagcatgtgt tcacactgtg
     4081 tgtaaacatt cactgaagat tttttctttg tgcattgctg actgttcaaa cataacaagt
     4141 attattaaaa ttaaatatta actgac
//
