LOCUS       NM_182703               3101 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ankyrin repeat and death domain containing 1A
            (ANKDD1A), mRNA.
ACCESSION   NM_182703
VERSION     NM_182703.6
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 3101)
  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   2  (bases 1 to 3101)
  AUTHORS   Chatrath,A., Kiran,M., Kumar,P., Ratan,A. and Dutta,A.
  TITLE     The Germline Variants rs61757955 and rs34988193 Are Predictive of
            Survival in Lower Grade Glioma Patients
  JOURNAL   Mol Cancer Res 17 (5), 1075-1086 (2019)
   PUBMED   30651372
  REMARK    GeneRIF: Results provide evidence that rs34988193 is a deleterious
            germline variant present in ANKDD1a associated with poor outcomes
            of patients with low grade glioma.
REFERENCE   3  (bases 1 to 3101)
  AUTHORS   Feng,J., Zhang,Y., She,X., Sun,Y., Fan,L., Ren,X., Fu,H., Liu,C.,
            Li,P., Zhao,C., Liu,Q., Liu,Q., Li,G. and Wu,M.
  TITLE     Hypermethylated gene ANKDD1A is a candidate tumor suppressor that
            interacts with FIH1 and decreases HIF1alpha stability to inhibit
            cell autophagy in the glioblastoma multiforme hypoxia
            microenvironment
  JOURNAL   Oncogene 38 (1), 103-119 (2019)
   PUBMED   30082910
  REMARK    GeneRIF: ANKDD1A is a functional tumor suppressor gene, especially
            in the hypoxia microenvironment. ANKDD1A directly interacts with
            FIH1 and inhibits the transcriptional activity of HIF1alpha by
            upregulating FIH1. ANKDD1A decreases the half-life of HIF1alpha by
            upregulating FIH1, decreases glucose uptake and lactate production,
            inhibits glioblastoma multiforme (GBM) autophagy, and induces
            apoptosis in GBM cells under hypoxia
REFERENCE   4  (bases 1 to 3101)
  AUTHORS   Gieger,C., Radhakrishnan,A., Cvejic,A., Tang,W., Porcu,E.,
            Pistis,G., Serbanovic-Canic,J., Elling,U., Goodall,A.H.,
            Labrune,Y., Lopez,L.M., Magi,R., Meacham,S., Okada,Y., Pirastu,N.,
            Sorice,R., Teumer,A., Voss,K., Zhang,W., Ramirez-Solis,R.,
            Bis,J.C., Ellinghaus,D., Gogele,M., Hottenga,J.J., Langenberg,C.,
            Kovacs,P., O'Reilly,P.F., Shin,S.Y., Esko,T., Hartiala,J.,
            Kanoni,S., Murgia,F., Parsa,A., Stephens,J., van der Harst,P.,
            Ellen van der Schoot,C., Allayee,H., Attwood,A., Balkau,B.,
            Bastardot,F., Basu,S., Baumeister,S.E., Biino,G., Bomba,L.,
            Bonnefond,A., Cambien,F., Chambers,J.C., Cucca,F., D'Adamo,P.,
            Davies,G., de Boer,R.A., de Geus,E.J., Doring,A., Elliott,P.,
            Erdmann,J., Evans,D.M., Falchi,M., Feng,W., Folsom,A.R.,
            Frazer,I.H., Gibson,Q.D., Glazer,N.L., Hammond,C.,
            Hartikainen,A.L., Heckbert,S.R., Hengstenberg,C., Hersch,M.,
            Illig,T., Loos,R.J., Jolley,J., Khaw,K.T., Kuhnel,B.,
            Kyrtsonis,M.C., Lagou,V., Lloyd-Jones,H., Lumley,T., Mangino,M.,
            Maschio,A., Mateo Leach,I., McKnight,B., Memari,Y., Mitchell,B.D.,
            Montgomery,G.W., Nakamura,Y., Nauck,M., Navis,G., Nothlings,U.,
            Nolte,I.M., Porteous,D.J., Pouta,A., Pramstaller,P.P., Pullat,J.,
            Ring,S.M., Rotter,J.I., Ruggiero,D., Ruokonen,A., Sala,C.,
            Samani,N.J., Sambrook,J., Schlessinger,D., Schreiber,S.,
            Schunkert,H., Scott,J., Smith,N.L., Snieder,H., Starr,J.M.,
            Stumvoll,M., Takahashi,A., Tang,W.H., Taylor,K., Tenesa,A., Lay
            Thein,S., Tonjes,A., Uda,M., Ulivi,S., van Veldhuisen,D.J.,
            Visscher,P.M., Volker,U., Wichmann,H.E., Wiggins,K.L.,
            Willemsen,G., Yang,T.P., Hua Zhao,J., Zitting,P., Bradley,J.R.,
            Dedoussis,G.V., Gasparini,P., Hazen,S.L., Metspalu,A., Pirastu,M.,
            Shuldiner,A.R., Joost van Pelt,L., Zwaginga,J.J., Boomsma,D.I.,
            Deary,I.J., Franke,A., Froguel,P., Ganesh,S.K., Jarvelin,M.R.,
            Martin,N.G., Meisinger,C., Psaty,B.M., Spector,T.D., Wareham,N.J.,
            Akkerman,J.W., Ciullo,M., Deloukas,P., Greinacher,A., Jupe,S.,
            Kamatani,N., Khadake,J., Kooner,J.S., Penninger,J., Prokopenko,I.,
            Stemple,D., Toniolo,D., Wernisch,L., Sanna,S., Hicks,A.A.,
            Rendon,A., Ferreira,M.A., Ouwehand,W.H. and Soranzo,N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098736.1, AK307698.1, BC101275.1, BC101273.1, AC103691.2,
            BC047571.1, BC042002.1 and BX116779.1.
            
            On Nov 22, 2018 this sequence version replaced NM_182703.5.
            
            Sequence Note: The 5' to 3' exon combination is inferred based on
            transcript alignments and is supported by homologous proteins.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319580.13/ ENSP00000325895.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                AK098736.1         1-63
            64-296              AK098736.1         162-394
            297-395             AK307698.1         241-339
            396-797             AK098736.1         652-1053
            798-1190            BC101275.1         496-888
            1191-1576           BC101273.1         793-1178
            1577-1577           AC103691.2         27779-27779
            1578-1875           BC047571.1         1556-1853
            1876-2600           BC042002.1         251-975
            2601-2601           AC103691.2         28803-28803
            2602-3011           BX116779.1         76-485
            3012-3012           AC103691.2         29214-29214
            3013-3101           BX116779.1         487-575
FEATURES             Location/Qualifiers
     source          1..3101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..3101
                     /gene="ANKDD1A"
                     /note="ankyrin repeat and death domain containing 1A"
                     /db_xref="GeneID:348094"
                     /db_xref="HGNC:HGNC:28002"
     exon            1..63
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1598
                     /gene="ANKDD1A"
                     /codon_start=1
                     /product="ankyrin repeat and death domain-containing
                     protein 1A"
                     /protein_id="NP_874362.3"
                     /db_xref="CCDS:CCDS10197.2"
                     /db_xref="GeneID:348094"
                     /db_xref="HGNC:HGNC:28002"
                     /translation="MQEELAWETDGLLPLERQLHEAARQNNVGRMQELIGRRVNTRAR
                     NHVGRVALHWAAGAGHEQAVRLLLEHEAAVDEEDAVGALTEARLCFGMNALLLSAWFG
                     HLRILQILVNSGAKIHCESKDGLTLLHCAAQKGHVPVLAFIMEDLEDVALDHVDKLGR
                     TAFHRAAEHGQLDALDFLVGSGCDHNVKDKEGNTALHLAAGRGHMAVLQRLVDIGLDL
                     EEQNAEGLTALHSAAGGSHPDCVQLLLRAGSTVNALTQKNLSCLHYAALSGSEDVSRV
                     LIHAGGCANVVDHQGASPLHLAVRHNFPALVRLLINSDSDVNAVDNRQQTPLHLAAEH
                     AWQDIADMLLIAGVDLNLRDKQGKTALAVAVRSNHVSLVDMIIKADRFYRWEKDHPSD
                     PSGKSLSFKQDHRQETQQLRSVLWRLASRYLQPREWKKLAYSWEFTEAHVDAIEQQWT
                     GTRSYQEHGHRMLLIWLHGVATAGENPSKALFEGLVAIGRRDLAGWSTMARSQLTATS
                     ASRVQMILVPQPPE"
     exon            64..167
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            168..296
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            297..395
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            396..500
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            501..599
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            600..698
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            699..797
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            798..896
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            897..995
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1094
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1190
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1380
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1512
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..3101
                     /gene="ANKDD1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3077..3082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKDD1A"
                     /note="hexamer: AATAAA"
     polyA_site      3101
                     /gene="ANKDD1A"
                     /note="major polyA site"
ORIGIN      
        1 agcgcgcgca ggggctgcgg agcggcagga tgcaggagga gctggcgtgg gagaccgacg
       61 gcctgcttcc tctggagagg cagctccacg aggccgcccg ccagaacaat gtcggcagga
      121 tgcaggagct gattgggagg agggttaaca ccagggccag aaaccacgtg ggcagggtgg
      181 ccctgcactg ggctgcaggt gcagggcacg agcaggctgt gcgtctgctt ctggagcacg
      241 aggctgctgt ggacgaggag gatgcggtag gggccctcac agaggcacgt ctgtgttttg
      301 ggatgaatgc gcttctcctg tctgcctggt tcggccactt acgaatcctc cagatcttgg
      361 taaactcagg ggccaagatc cactgtgaga gcaaggatgg cctgacctta ctgcactgcg
      421 cagcccaaaa aggccatgtg cctgtgctgg cgttcataat ggaggacctg gaggatgtgg
      481 ccctggacca cgtagacaag ctggggagga cggcgtttca cagggcagct gagcacgggc
      541 agctggatgc tctggacttc ctcgtgggct ctggctgtga ccacaatgtc aaagacaagg
      601 aggggaacac tgcccttcat ctggctgctg gtcggggcca tatggctgtg ctgcagcgac
      661 ttgtggacat cgggctggac ctggaggagc agaatgcgga aggtctgact gccctgcatt
      721 cggctgctgg aggatcccac cctgactgtg tgcagctcct cctcagggct gggagcaccg
      781 tgaatgccct cacccagaaa aacctaagct gccttcacta tgcagccctc agtggctcgg
      841 aggatgtgtc tcgggtcctc atccacgcag gaggctgcgc caacgtggtt gatcatcagg
      901 gtgcctctcc tctgcacctc gctgtgaggc acaacttccc tgccttggtc cggctcctca
      961 tcaactccga cagtgacgtg aatgccgtgg acaataggca gcagacgccc cttcacctgg
     1021 ctgcagagca cgcctggcag gacatagcag atatgctcct cattgctggg gttgacttaa
     1081 acctgagaga taagcaggga aaaaccgccc tggcagtggc cgtccgcagc aaccatgtca
     1141 gcctggtgga catgatcata aaagctgatc gtttctacag atgggagaag gaccacccca
     1201 gtgatccctc tgggaagagc ttgtccttta agcaggacca tcggcaggaa acacagcagc
     1261 tccgttctgt gctgtggcgg ctggcctcca ggtatctgca gccccgtgag tggaagaagc
     1321 tggcatattc ctgggagttc acggaggcac atgtcgacgc catcgagcaa cagtggacag
     1381 gcaccaggag ctatcaggag cacggccacc gaatgctgct catttggctg catggcgtgg
     1441 ccacggctgg tgagaacccc agcaaagcgc tgttcgaggg cctcgtggcc attggcagga
     1501 gggacctggc tggctggagt acaatggcga gatctcagct cacggcaacc tccgcctccc
     1561 gggttcaaat gattcttgtg cctcagcctc ccgagtagct gggattacag gtgcatgcca
     1621 tcacagctgg ctaatttttg tatttttagt agagatgggg tttggccatg atggccaggc
     1681 tggaaaattg aaacataatt tcacaattat tcctttttcc accttaaata ataagagtag
     1741 aatactttct gtgtttttat cttatacaca tgaataaatg ctatggctta tcacagttac
     1801 aatgtgtttt ctgaaagtaa agattatttt accttgaaat tacaaaaatt attttcagtt
     1861 ttccaaaatt ctatctttaa acctaaataa ttcaatttca tggatgcaca aatgtttatt
     1921 gagagtctca tattcatgct tttcttcaca gcactataaa gttggacttg gaaaatttgg
     1981 acagccattt gccattgtaa tttttattct tttttctcct gattatttga caaaacttgt
     2041 atccacattg tagctgttca tgtgtctgct tctattgcat attgtaaaat tattaactac
     2101 ttcccaaaat agtatttctc tcagcagata tttctttggt actaccatgt attgtgtaac
     2161 ttttgggaaa gtaaggtggc ttccctgctc tcagtgaagc attttattaa aagaataatt
     2221 ataattaaaa aaacacgata cagatcagtg catatagtat attactaata gtatgctgtt
     2281 aattgtgtaa gaaagaaagg aaattagaaa acatatttgc ataaataaaa gctagacaaa
     2341 ggctaagaaa ctaatcaggt ggtttccctg gggtagtagg ataatgggga acagtggggc
     2401 tgggaccggg tgggagaaag agttctcagt ggttcctttc tatacagttt taacttttga
     2461 aatgtgtgag agtgttactt actgaaaact gaaaggatat gacatgctgg aacaggcaaa
     2521 actacaaaga cagtaaaaag atcagtgatt tccaggagct gcaagggcag tgagaggaag
     2581 ggagggatga ggaggtggag cgcaggggat gttagggcag tgaaaggttc tgtatgacac
     2641 tgtgatggtg ggtacatgac attgggcatt ggtcaaaacc catagcatgt acagcacaaa
     2701 gcgtttgctc taatgtgagc tatggacttt agttaatagt aacgtgtcaa tattggttca
     2761 tcagttgtat caaatgtacc acactgatgc cagatgttaa taatcgggga aactgtgtgt
     2821 gctgaagagt acgtgggagc tctctgtgct atctgctcaa tttttctcta aacctaaaac
     2881 tgttctaaaa tagaaagtct gtgaaaaaaa acaaaagtaa agttataaaa ggaaaagaaa
     2941 acagaggctt taaattaaat catctattcc ttgggaaagg tattttgtac catatgggac
     3001 tgaaatcatt tatctggatg aattttataa aatgaatttt gtaatttttt tctgagaaaa
     3061 aaaagttctt aaatacaata aaattgaaat gttgaaatat a
//
