LOCUS       NM_152763               3050 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens AKNA domain containing 1 (AKNAD1), transcript variant
            1, mRNA.
ACCESSION   NM_152763
VERSION     NM_152763.5
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 3050)
  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   2  (bases 1 to 3050)
  AUTHORS   Dajani,R., Li,J., Wei,Z., Glessner,J.T., Chang,X., Cardinale,C.J.,
            Pellegrino,R., Wang,T., Hakooz,N., Khader,Y., Sheshani,A.,
            Zandaki,D. and Hakonarson,H.
  TITLE     CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan
            Subpopulations
  JOURNAL   Sci Rep 5, 13391 (2015)
   PUBMED   26292654
  REMARK    GeneRIF: a significant copy number variation in gene AKNAD1
            associated with type-2 diabetes, was identified and experimentally
            validated.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3050)
  AUTHORS   Low,S.K., Chung,S., Takahashi,A., Zembutsu,H., Mushiroda,T.,
            Kubo,M. and Nakamura,Y.
  TITLE     Genome-wide association study of chemotherapeutic agent-induced
            severe neutropenia/leucopenia for patients in Biobank Japan
  JOURNAL   Cancer Sci 104 (8), 1074-1082 (2013)
   PUBMED   23648065
REFERENCE   4  (bases 1 to 3050)
  AUTHORS   Irvin,M.R., Shrestha,S., Chen,Y.D., Wiener,H.W., Haritunians,T.,
            Vaughan,L.K., Tiwari,H.K., Taylor,K.D., Scherzer,R., Saag,M.S.,
            Grunfeld,C., Rotter,J.I. and Arnett,D.K.
  TITLE     Genes linked to energy metabolism and immunoregulatory mechanisms
            are associated with subcutaneous adipose tissue distribution in
            HIV-infected men
  JOURNAL   Pharmacogenet Genomics 21 (12), 798-807 (2011)
   PUBMED   21897333
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL832216.1 and AL449266.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152763.4.
            
            Summary: This gene encodes a protein which contains a domain found
            in an AT-hook-containing transcription factor. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, May
            2012].
            
            Transcript Variant: This variant (1) encodes the functional
            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 :: AL832216.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370001.8/ ENSP00000359018.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AL832216.1         1-70
            71-71               AL449266.17        65898-65898         c
            72-450              AL832216.1         72-450
            451-1186            AL449266.17        60622-61357         c
            1187-1781           AL832216.1         1187-1781
            1782-1782           AL449266.17        46447-46447         c
            1783-2116           AL832216.1         1783-2116
            2117-2117           AL449266.17        36167-36167         c
            2118-2452           AL832216.1         2118-2452
            2453-2453           AL449266.17        29484-29484         c
            2454-3046           AL832216.1         2454-3046
            3047-3050           AL449266.17        24775-24778         c
FEATURES             Location/Qualifiers
     source          1..3050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3050
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /note="AKNA domain containing 1"
                     /db_xref="GeneID:254268"
                     /db_xref="HGNC:HGNC:28398"
     exon            1..166
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            167..1262
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     CDS             270..2780
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /codon_start=1
                     /product="protein AKNAD1"
                     /protein_id="NP_689976.2"
                     /db_xref="CCDS:CCDS791.2"
                     /db_xref="GeneID:254268"
                     /db_xref="HGNC:HGNC:28398"
                     /translation="MDEADFSEHTTYKQEDLPYDGDLSQIKIGNDYSFTSKKDGLEVL
                     NQIIFIADDPQEKAMHSETCGNTAVTIPLGKITENAANKKDEKEKQCTAALHIPANEG
                     DASKSSISDILLHHLSKEPFLRGQGIDCETLPEISNADSFEEEAIIKSIISCYNKNSW
                     PKEQTPELTDQLNPKRDGENSNKPGSATTTEENTSDLEGPVAAGDSSHQENVNVLTKT
                     KGPGDKQKSYQGQSPQKQQTEKANSGNTFKYGQGQVHYQLPDFSKIAPKVKIPKNKII
                     NKPLAIAKQASFSSKSRDKPTLVQDSLETTPESNCVEKQHQEQKGKITEPSQQIQMEP
                     IVHIHQELLTGIESEASLSKLSPTSQKGTSSSSSYIFQKISQGKQMCQKLKEQTDQLK
                     TKVQEFSKRIKQDSPYHLQDKKLVLEKLQGHLELLEQNFLATKDKHLTLQQQVHKHES
                     TIVGDFDPERKVEGEIFKLEMLLEDVKEKMDESKYTSAPSLPVSSPVTLDDLASTFSS
                     LSNEIPKEHPGHPSGPRGSGGSEVTGTPQGGPQEAPNEELCELAPQTYLNGHYGDAAA
                     QNKPDQVAMRLSSNSGEDPNGTPRRQDCAEMTAPSPSCAFCRRLLEWKQNVEKKGHGR
                     INCGRFSIVLHEKAPHSDSTPNSDTGHSFCSDSGTEMQSNKCQDCGTKIPTSRRACRK
                     EPTKEFHYRYNTPGQNYSNHSKRGAFVQPHSLDESKNSSPSFLKPKRICSQRVNSKSF
                     KGEHEPTPGKKKLQAFMTYSSDPATPSPHFYSCRISGSKSLCDFDSTEEIKSEILNSA
                     LDHALRTATILKETTDQMIKTIAEDLAKAQRWRNRLKY"
     exon            1263..1302
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1451
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1514
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1648
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1805
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1933
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2015
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2107
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2205
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2206..2328
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2329..2436
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2437..2518
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2519..2648
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     exon            2649..3050
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3002..3007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /note="hexamer: AATAAA"
     regulatory      3034..3039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /note="hexamer: AAGAAA"
     polyA_site      3035
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /note="major polyA site"
     polyA_site      3050
                     /gene="AKNAD1"
                     /gene_synonym="C1orf62"
                     /note="major polyA site"
ORIGIN      
        1 acctgacttc agaaaatcaa tttggattct acagaaaggt tctgttggat tctgagtgga
       61 acctctttgg atatgccttt ggatttcaag attgagccaa gtgttgacat gggaagatgc
      121 tccagttcct ccagttatct caaagaagct cattaccttg ctaaggaata gcacacagtg
      181 aagacagtca gtgagaacca gagctattgt tacaactgac agcagccagc tcaggaggca
      241 gaggacgaga gcgatcgggc tgcacacaca tggatgaggc tgatttttca gaacacacga
      301 cttataagca ggaggatttg ccttatgatg gggacctctc tcagattaag ataggcaatg
      361 attacagttt tacctcaaaa aaggatggcc ttgaagtctt aaatcaaatt attttcatag
      421 cagatgaccc tcaagagaag gctatgcata gtgagacttg tggaaataca gctgtgacca
      481 tacccctggg taaaattact gaaaatgctg ccaacaaaaa agacgagaaa gagaaacaat
      541 gcactgcagc tcttcatatt ccagcaaatg aaggagacgc ttctaagtca agcatttctg
      601 atattttact tcatcatctt tccaaagagc cattcttaag aggtcaaggc attgattgtg
      661 aaaccctccc agagatctca aatgccgaca gttttgaaga ggaagctatt attaaaagta
      721 ttatttcatg ttataataag aattcttggc caaaagaaca aaccccagaa ctcactgacc
      781 aactcaaccc gaaaagggat ggtgaaaaca gcaataagcc tggttctgcc accacgacag
      841 aggaaaatac ctctgattta gaagggccag tggctgctgg agatagcagc catcaagaaa
      901 atgtgaatgt tctaactaaa accaagggtc caggtgataa acaaaaaagt tatcaagggc
      961 agtcacccca gaaacagcag actgaaaaag caaattcagg caacacgttc aaatacggcc
     1021 aaggtcaagt tcattaccag ctccctgatt tctctaagat tgctcccaaa gtgaaaattc
     1081 ctaaaaataa gataattaat aaaccacttg caatagctaa acaagccagc ttttcttcca
     1141 agtcgagaga taaacccact cttgtgcaag atagtctaga aaccacgcct gagtcaaact
     1201 gtgttgaaaa acaacatcaa gagcagaaag ggaaaatcac tgaaccttca caacaaatcc
     1261 agatggagcc catagtacat atccaccaag aacttctcac aggaatagaa tctgaggcaa
     1321 gtctctctaa gttgtcacca acctctcaga aaggcacttc ctcaagttct tcttacatat
     1381 ttcaaaagat atcccaaggg aaacagatgt gtcagaagtt gaaagaacag actgatcaac
     1441 tgaagactaa agtacaagaa ttttccaaaa gaataaaaca ggactctcct taccatttgc
     1501 aagacaagaa gctggtcctg gagaaactgc agggacacct tgaactgctg gagcagaact
     1561 ttctggccac caaggacaag catctgactt tgcagcagca agtccacaag cacgaatcaa
     1621 caatcgttgg tgactttgat ccagaaagaa aagtggaagg tgaaatcttc aaattggaga
     1681 tgctgcttga agatgttaaa gagaaaatgg atgaaagcaa atatacttca gctccttccc
     1741 ttcctgtgag ttctccagtt accctggatg acttggcctc caccttctct tcactctcaa
     1801 atgagattcc caaggagcac cccggccacc cttctgggcc tcgaggctca ggtgggagtg
     1861 aggtaacagg gacaccccaa ggagggccgc aggaggcccc caacgaggag ctctgtgagc
     1921 tggccccgca gacttaccta aacggtcatt atggagatgc agctgcccag aacaagccag
     1981 accaagtggc catgaggctg tcttctaact ctggggagga tcccaacggc actccaagaa
     2041 ggcaggattg tgcagagatg acggcaccca gtccgagctg tgccttctgt cgcaggctcc
     2101 ttgaatggaa gcaaaacgtg gagaaaaagg gccacggaag gatcaactgt ggaagatttt
     2161 caattgtcct tcatgaaaag gcaccacact cagattcaac tcccaattct gatacaggac
     2221 acagcttctg ttctgattct ggcactgaaa tgcagagtaa caaatgtcag gactgtggca
     2281 ctaagattcc tacctcccga agagcctgca ggaaagaacc aactaaagaa tttcattata
     2341 gatacaacac tccaggacag aattactcaa atcatagcaa aagaggtgcc tttgtccagc
     2401 cccattcttt agatgaaagt aaaaactctt caccctcttt tttaaaaccc aaacggatct
     2461 gttctcagag agtgaattca aaatccttta aaggtgaaca tgagcccaca ccaggaaaaa
     2521 aaaaacttca ggctttcatg acctacagct cagaccctgc aacaccctca ccccatttct
     2581 actcctgcag gatttctgga agcaaatcct tatgtgactt tgatagcact gaagaaataa
     2641 aatctgagat tttaaactcg gctttggatc atgccctaag gacagcaacc attttgaaag
     2701 aaactacaga tcaaatgatt aaaacgattg cagaagacct tgctaaagca cagaggtgga
     2761 ggaatcgact gaaatactag ttcaacgcta ggctaccaag gattcaaaag aaaaaaatgc
     2821 aaagaaaact tgatcttccc ccaaaatgta ttttacttac tacacaattt aggaagatga
     2881 ctttctagag aaaacacaga aaccataaga aatgggtaac acaaagtact taaaggaaaa
     2941 agaaaaaaga aaggacttct gattcttaaa atcaaaagca accaacaagt atttatttta
     3001 aaataaatct atgttcttct taactcataa taaaagaaat caaaacaaaa
//
