LOCUS       NM_152345               3550 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.
ACCESSION   NM_152345
VERSION     NM_152345.5
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 3550)
  AUTHORS   Mattioni,A., Boldt,K., Auciello,G., Komada,M., Rappoport,J.Z.,
            Ueffing,M., Castagnoli,L., Cesareni,G. and Santonico,E.
  TITLE     Ring Finger Protein 11 acts on ligand-activated EGFR via the direct
            interaction with the UIM region of ANKRD13 protein family
  JOURNAL   FEBS J 287 (16), 3526-3550 (2020)
   PUBMED   31985874
REFERENCE   2  (bases 1 to 3550)
  AUTHORS   Tanno,H., Yamaguchi,T., Goto,E., Ishido,S. and Komada,M.
  TITLE     The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor
            endocytosis from the plasma membrane
  JOURNAL   Mol Biol Cell 23 (7), 1343-1353 (2012)
   PUBMED   22298428
  REMARK    GeneRIF: overexpression of wild-type as well as truncated-mutant
            Ankrd 13A, 13B and 13D proteins strongly inhibited rapid
            endocytosis of ubiquitinated EGFR from the surface in EGF-treated
            cells
REFERENCE   3  (bases 1 to 3550)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104564.11, AK092673.1, DA445860.1, BG029526.1 and AK000425.1.
            
            On Nov 28, 2018 this sequence version replaced NM_152345.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK092673.1, SRR9304719.301957.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000394859.8/
                                                ENSP00000378328.3
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-377               AC104564.11        128002-128378       c
            378-560             AC104564.11        127819-128001       c
            561-729             AK092673.1         1-169
            730-1092            DA445860.1         220-582
            1093-1817           AK092673.1         533-1257
            1818-2154           BG029526.1         222-558
            2155-3550           AK000425.1         137-1532
FEATURES             Location/Qualifiers
     source          1..3550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..3550
                     /gene="ANKRD13B"
                     /note="ankyrin repeat domain 13B"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
     exon            1..604
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     CDS             491..2371
                     /gene="ANKRD13B"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 13B"
                     /protein_id="NP_689558.4"
                     /db_xref="CCDS:CCDS11251.1"
                     /db_xref="GeneID:124930"
                     /db_xref="HGNC:HGNC:26363"
                     /db_xref="MIM:615124"
                     /translation="MIPANASARKGPEGKYPLHYLVWHNRHRELEKEVRAGQVDIEQL
                     DPRGRTPLHLATTLGHLECARVLLAHGADVGRENRSGWTVLQEAVSTRDLELVQLVLR
                     YRDYQRVVKRLAGIPVLLEKLRKAQDFYVEMKWEFTSWVPLVSKICPSDTYKVWKSGQ
                     NLRVDTTLLGFDHMTWQRGNRSFVFRGQDTSAVVMEIDHDRRVVYTETLALAGQDREL
                     LLAAAQPTEEQVLSRLTAPVVTTQLDTKNISFERNKTGILGWRSEKTEMVNGYEAKVY
                     GASNVELITRTRTEHLSEQHKGKVKGCKTPLQSFLGIAEQHGGPQNGTLITQTLSQAN
                     PTAITAEEYFNPNFELGNRDMGRPMELTTKTQKFKAKLWLCEEHPLSLCEQVAPIIDL
                     MAVSNALFAKLRDFITLRLPPGFPVKIEIPIFHILNARITFGNLNGCDEPVPSVRGSP
                     SSETPSPGSDSSSVSSSSSTTSCRGCEISPALFEAPRGYSMMGGQREAATRDDDDDLL
                     QFAIQQSLLEAGSEYDQVTIWEALTNSKPGTHPMSYEGRRQDRSAPPTPQRQPAPPAS
                     VPSPRPSSGPGSGGHVFRSYDEQLRLAMELSAQEQEERRRRARQEEEELERILRLSLT
                     EQ"
     exon            605..740
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            741..865
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            866..911
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1055
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1245
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1312
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1394
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1459
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1590
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1748
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1901
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..2065
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2142
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     exon            2143..3550
                     /gene="ANKRD13B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3528..3533
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD13B"
                     /note="hexamer: AATAAA"
     polyA_site      3550
                     /gene="ANKRD13B"
                     /note="major polyA site"
ORIGIN      
        1 ctctctcccc atcatcccca catccccgta tcccgcgccg gccgctcggg ctgagggccg
       61 ggctatgcag ctgtggggac ccgggggctg cgggcgcgcg tccctgcggc ggcgtccccg
      121 gggcccgcgt cccgtgcgcc cccgcgcccg ctgcgggcgc ctgctccctc cgccgagcgg
      181 cgtctttgtg tgcgggggtg tgggaggcga gcgcgagtcc gcgcagcgcc gccgagtgcc
      241 cgctccctcc cagggcgggt gggggcctct ccgcgccgcc cgccgccgcc gcctcgcgag
      301 gacgcccgtc gcccgcgccg cccgcaccgc gccgggcgcg ccgcccccgc ccgccgccgc
      361 tcgcacatgc ccgagccgca gccccgcgag caggcagcgc cggccccccg ccccgcggcc
      421 ccgggccccg gctccggcgc cgtccctcct ccccggccgg gcgccgcggc cccggcatga
      481 ggagcgggcg atgatccccg ccaacgcctc cgccaggaag gggcccgagg gcaagtatcc
      541 gctgcactac ctcgtgtggc acaaccgcca ccgcgagctg gagaaggagg tccgcgcggg
      601 ccaggtggac atcgagcagc tggatccccg cggccggact cccctgcacc tggccaccac
      661 gctggggcac cttgagtgtg cccgtgtgct cctggcgcac ggcgcagacg tgggcaggga
      721 gaatcgcagc ggctggacag tgctccagga ggctgtgagt acccgggacc tggagctggt
      781 gcagctggtg cttcggtacc gggactacca gcgggtggtg aagcggctgg cgggcatccc
      841 cgtgctcctg gagaagctgc gcaaggccca ggacttctac gtggagatga aatgggagtt
      901 cactagctgg gtgcccctgg tgtccaagat ctgccctagt gacacctaca aagtgtggaa
      961 gagcggccag aacctgaggg tagacaccac actcctgggc tttgaccaca tgacctggca
     1021 gcgagggaac cgcagctttg tcttcagggg ccaagacaca agcgccgtgg tcatggagat
     1081 tgaccacgac cgccgggtgg tgtacacaga gactctggca ctggctgggc aggaccggga
     1141 gctgctgctg gctgctgctc agcccactga ggaacaggtg ctgagccggc ttaccgcgcc
     1201 cgtcgtcacc actcagcttg acaccaagaa tatctccttt gagaggaaca agactggcat
     1261 cctgggctgg cgcagtgaaa agacggagat ggtgaatggg tatgaagcta aggtgtatgg
     1321 ggcatctaac gtggagctca tcacccgcac acggacagaa catctttcag aacagcacaa
     1381 gggcaaggtc aaaggctgta agacaccttt gcagtccttc ctgggaatcg ctgagcagca
     1441 cgggggcccc caaaatggga ccctgatcac tcagactctg agccaagcca accccactgc
     1501 catcactgca gaagaatact tcaaccccaa ctttgagctg ggcaaccgtg atatgggccg
     1561 ccccatggaa ctgaccacca agacacagaa gttcaaggcc aagctgtggc tgtgtgagga
     1621 gcatcccctg tccctgtgtg agcaggtggc ccccatcatt gacctcatgg ccgtcagcaa
     1681 tgcgcttttt gccaagctcc gggacttcat caccctgcgt ctgcctcctg gcttcccagt
     1741 taagattgaa atcccgatct tccacatcct caacgcccgc atcaccttcg ggaacctcaa
     1801 cggctgcgac gaaccggtgc catcggtgcg aggcagcccc agcagcgaga cgccttcccc
     1861 aggcagcgac tcctccagcg tcagcagctc cagctccacg acctcctgcc gcggctgcga
     1921 gatctcccca gcgttgttcg aggccccgcg cggctacagc atgatgggcg gccagcggga
     1981 ggcggcgacc cgggacgacg acgacgacct gctgcaattc gccatccagc agagcctgct
     2041 tgaggcgggc agtgagtatg accaggtcac catctgggag gcgctaacca acagcaagcc
     2101 aggcacccac cccatgtcct acgagggtcg ccgacaggac aggagcgccc cgcccacgcc
     2161 gcagcgccag cctgcgcccc cggcgtcagt gcccagccct cggcccagct cagggccagg
     2221 ttccggcggc cacgtgttcc ggagctacga cgagcagctg cggctggcga tggaactgtc
     2281 ggcgcaggag caggaggaga ggcggcggcg cgcgcgccag gaggaggagg agctggagcg
     2341 catcctgagg ctctcactga ccgagcagta gcgccccctg ccgggaccct cgccagcgcc
     2401 acgcgcgcca cgcccagggc caggagccag acaaaccccg gcctgcgcgc ctgcagagcg
     2461 gcggctggag actggagcca ccgcctcgcg ggtgcagcag cacagcaggc acggttcggg
     2521 gagggattcg gcatggccgc ggggtacctt cccaggccag ggccctggag gcaactggca
     2581 cggcctggtc cccctgcttt gctgtattct gattccccaa cccgctcccc tgggctcaga
     2641 tctgtcctgt cctagggcgg agccaggcgg tcctgagggg gagatgaatc cttagaggag
     2701 cgctgtccct atcccttgct ccttctggcc ggtccgcatt tctgttcact aaccccactc
     2761 caggacactg cccctgaagc ctttgcatct ctgctcttca ctcctggggg gcagctgagc
     2821 tccccgcgtg ctgtgtcact gctttgttcc agacacaaac cagcacgtct agggcccagc
     2881 ccctccccca ccccggcatt tcagcgtcaa gtgcacttag cggggtaccc ggctccccca
     2941 gcccccacac ccgtcctggg tctcagggtg gttccagctt ctccttgggc agccagaagt
     3001 tggagtccca tcccccaagg cacatttttt tttttttttt tttgtgatca gggagtgtgt
     3061 ccaacgtagc cccctggcct gtgcaagccc tgactccctc atggtgcctc ggagagtggg
     3121 gagcatattg ggctggggta agcactagac ccaagtagac tggacacaaa gggctcgccc
     3181 agggccctgg cgccaccccc accccttccc accagctgct gctagcctct gtggttgtac
     3241 atcccacttg cccccacacg gagactgact ctaaaaccct tcatccaatg gtgctaaccc
     3301 ccggctctcc cctgccccac ctcacccacc cagagaagca cagaccccgc caggggcagg
     3361 ggcccaccgc acacccttgt cccgggcctg tctgggactg gccttcccgg ctcagccagt
     3421 gaggctcaga agggacacaa agagggatgg aagaaaagaa caaagagaaa ctgttcctcc
     3481 cacccccttc cctgatgcca ggggcaccag actgattctg aggcacaaat aaaagaggct
     3541 tcataccgga
//
