LOCUS       NM_001081131            3535 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus dehydrogenase E1 and transketolase domain containing 1
            (Dhtkd1), mRNA.
ACCESSION   NM_001081131 XM_140800
VERSION     NM_001081131.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3535)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3535)
  AUTHORS   Leandro,J., Dodatko,T., Aten,J., Nemeria,N.S., Zhang,X., Jordan,F.,
            Hendrickson,R.C., Sanchez,R., Yu,C., DeVita,R.J. and Houten,S.M.
  TITLE     DHTKD1 and OGDH display substrate overlap in cultured cells and
            form a hybrid 2-oxo acid dehydrogenase complex in vivo
  JOURNAL   Hum Mol Genet 29 (7), 1168-1179 (2020)
   PUBMED   32160276
REFERENCE   3  (bases 1 to 3535)
  AUTHORS   Luan,C.J., Guo,W., Chen,L., Wei,X.W., He,Y., Chen,Y., Dang,S.Y.,
            Prior,R., Li,X., Kuang,Y., Wang,Z.G., Van Den Bosch,L. and Gu,M.M.
  TITLE     CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects,
            mitochondrial accumulation and altered metabolism in a knock-in
            mouse model
  JOURNAL   Acta Neuropathol Commun 8 (1), 32 (2020)
   PUBMED   32169121
  REMARK    GeneRIF: CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory
            defects, mitochondrial accumulation and altered metabolism in a
            knock-in mouse model.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3535)
  AUTHORS   Leandro,J., Violante,S., Argmann,C.A., Hagen,J., Dodatko,T.,
            Bender,A., Zhang,W., Williams,E.G., Bachmann,A.M., Auwerx,J., Yu,C.
            and Houten,S.M.
  TITLE     Mild inborn errors of metabolism in commonly used inbred mouse
            strains
  JOURNAL   Mol Genet Metab 126 (4), 388-396 (2019)
   PUBMED   30709776
REFERENCE   5  (bases 1 to 3535)
  AUTHORS   Xu,W.Y., Zhu,H., Shen,Y., Wan,Y.H., Tu,X.D., Wu,W.T., Tang,L.,
            Zhang,H.X., Lu,S.Y., Jin,X.L., Fei,J. and Wang,Z.G.
  TITLE     DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice
  JOURNAL   Mol Cell Biol 38 (13), e00085-18 (2018)
   PUBMED   29661920
  REMARK    GeneRIF: Dhtkd1(-/-) mice mimic the major aspects of CMT2
            phenotypes, characterized by progressive weakness and atrophy in
            the distal parts of limbs with motor and sensory dysfunctions,
            which are accompanied with decreased nerve conduction velocity.
            Moreover, DHTKD1 deficiency causes severe metabolic abnormalities
            and dramatically increased levels of 2-ketoadipic acid (2-KAA) and
            2-aminoadipic acid (2-AAA) in urine.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3535)
  AUTHORS   Biagosch,C., Ediga,R.D., Hensler,S.V., Faerberboeck,M., Kuehn,R.,
            Wurst,W., Meitinger,T., Kolker,S., Sauer,S. and Prokisch,H.
  TITLE     Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice
            challenge our current understanding of lysine metabolism
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (9), 2220-2228 (2017)
   PUBMED   28545977
  REMARK    GeneRIF: Elevated glutaric acid levels in Dhtkd1-/Gcdh- double
            knockout mice challenge our current understanding of lysine
            metabolism.
REFERENCE   7  (bases 1 to 3535)
  AUTHORS   Wu,Y., Williams,E.G., Dubuis,S., Mottis,A., Jovaisaite,V.,
            Houten,S.M., Argmann,C.A., Faridi,P., Wolski,W., Kutalik,Z.,
            Zamboni,N., Auwerx,J. and Aebersold,R.
  TITLE     Multilayered genetic and omics dissection of mitochondrial activity
            in a mouse reference population
  JOURNAL   Cell 158 (6), 1415-1430 (2014)
   PUBMED   25215496
  REMARK    GeneRIF: In the BXD mouse population, natural variants in Dhtkd1
            lead to changes in metabolite levels of 2-aminoadipate and in turn
            are associated with diabetes status, independently of chow or high
            fat diet feeding.
REFERENCE   8  (bases 1 to 3535)
  AUTHORS   Nagamachi,A., Matsui,H., Asou,H., Ozaki,Y., Aki,D., Kanai,A.,
            Takubo,K., Suda,T., Nakamura,T., Wolff,L., Honda,H. and Inaba,T.
  TITLE     Haploinsufficiency of SAMD9L, an endosome fusion facilitator,
            causes myeloid malignancies in mice mimicking human diseases with
            monosomy 7
  JOURNAL   Cancer Cell 24 (3), 305-317 (2013)
   PUBMED   24029230
REFERENCE   9  (bases 1 to 3535)
  AUTHORS   Okazaki,N., F-Kikuno,R., Ohara,R., Inamoto,S., Koseki,H.,
            Hiraoka,S., Saga,Y., Seino,S., Nishimura,M., Kaisho,T., Hoshino,K.,
            Kitamura,H., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   10 (bases 1 to 3535)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL928924.12.
            
            On May 22, 2007 this sequence version replaced NM_001081131.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK049272.1, SRR7652917.1127729.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-278               AL928924.12        156461-156738       c
            279-434             AL928924.12        146333-146488       c
            435-646             AL928924.12        144721-144932       c
            647-841             AL928924.12        143584-143778       c
            842-1111            AL928924.12        137815-138084       c
            1112-1283           AL928924.12        135611-135782       c
            1284-1482           AL928924.12        133386-133584       c
            1483-1795           AL928924.12        131619-131931       c
            1796-1880           AL928924.12        128756-128840       c
            1881-2020           AL928924.12        127458-127597       c
            2021-2171           AL928924.12        125760-125910       c
            2172-2278           AL928924.12        124248-124354       c
            2279-2443           AL928924.12        117906-118070       c
            2444-2526           AL928924.12        116914-116996       c
            2527-2696           AL928924.12        116275-116444       c
            2697-2782           AL928924.12        113857-113942       c
            2783-3535           AL928924.12        112006-112758       c
FEATURES             Location/Qualifiers
     source          1..3535
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 3.62 cM"
     gene            1..3535
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /note="dehydrogenase E1 and transketolase domain
                     containing 1"
                     /db_xref="GeneID:209692"
                     /db_xref="MGI:MGI:2445096"
     exon            1..278
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..2887
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /EC_number="1.2.4.2"
                     /note="probable 2-oxoglutarate dehydrogenase E1 component
                     DHKTD1, mitochondrial; dehydrogenase E1 and transketolase
                     domain-containing protein 1; alpha-KADH-E1;
                     alpha-ketoadipate dehydrogenase; 2-oxoadipate
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="2-oxoadipate dehydrogenase complex component E1"
                     /protein_id="NP_001074600.1"
                     /db_xref="CCDS:CCDS38040.1"
                     /db_xref="GeneID:209692"
                     /db_xref="MGI:MGI:2445096"
                     /translation="MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEP
                     RGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFT
                     TTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFT
                     TEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDI
                     IIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGA
                     HQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGD
                     ASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVG
                     CAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMY
                     KIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQA
                     RWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKN
                     GSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHM
                     DPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFIS
                     GGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHP
                     TTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSV
                     DPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKH
                     VRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDI
                     LSKTFTQ"
     exon            279..434
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            435..646
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            647..841
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1111
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1283
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1482
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1795
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1880
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1881..2020
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..2171
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2172..2278
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2443
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2444..2526
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2527..2696
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2697..2782
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     exon            2783..3535
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3404..3409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /note="hexamer: AGTAAA"
     polyA_site      3425
                     /gene="Dhtkd1"
                     /gene_synonym="C330018I04Rik; E1a; OADC-E1; OADH-E1"
                     /note="major polyA site"
ORIGIN      
        1 gacgggtcct cagactcacg tggtgtgttc gggtctcctc tcctgcaccg gaccctcgct
       61 ctccttggtt gtagctctta tttttctatt cttccacggc gtcttcgacc ccagattgga
      121 tatggcatcg gccgccactg tggcagctgc agggagagct ctccgccggg ccgttctgct
      181 tctccggcgc ggttaccaga cggagagggg cgtctatgga taccggccta ggaaagccaa
      241 gagcggagag cctcgaggcg accgtgcacg cccctcagtt gaccatggcc ttgccaggct
      301 ggtgacagtg tattgtgagc atggccacaa agctgcccag atcaaccctc tcttccctgg
      361 acaagccctc ctggatactg tgcctgaaat ccaagctctt gtccggacac tccagggacc
      421 cttcactacc acaggactgt taaacctggg caaagaagca gcttctcttg aggaagtatt
      481 ggcctatctg aaccatatct actgtggccc aatttctatc gaaaccgccc agcttcagag
      541 ccaggaagag agagactggt ttgccagaag gtttgaggaa ctgaaaaagg agacgttcac
      601 cacagaagaa cgaaaatacc tgtccaaact attgctagag tctcaggagt ttgaccactt
      661 tttggccacc aagtttgcca cggtgaagag atacggcggt gaaggggcag agagcatgat
      721 gggctttttt catgagttgc tgaaattgtc agcctatggc ggtataaccg acatcattat
      781 cgggatgccc catagaggga ggttgaattt gttgacaggc cttctgcagt tacctccgga
      841 gctgatgttc cgtaaaatgc gaggcttaag cgagtttcca gagaatgttg ccaccattgg
      901 tgatgtcctg tcccacctga cctcctcagt ggacctagac ttcggtgccc atcaacccct
      961 ccatgtgaca atgctgccca acccctcaca tctggaagct gttaaccccg tggctgtagg
     1021 gaaaactcgt ggcaggcagc agtctcggga agatggggac tactccccga atggttctgc
     1081 tcagcctggg gacaaagtca tatgcctgca ggtccacggt gacgcttcct tctgcggtca
     1141 ggggattgtc cttgagacgt tcacactctc taatcttcca cacttcagaa ttggtgggag
     1201 catccatcta attgtcaata accagctggg ctacaccact cctgcagaga gaggaaggtc
     1261 gtccttatac agctctgata tcggaaagct cgtaggctgt gccatcatcc atgtcaatgg
     1321 agacagccca gaggaagtgg tccgagcgac acgcctggct tttgaatatc agcgccagtt
     1381 ccgcaaggat gtgattgttg atttgttatg ctataggcag tggggtcata acgagctaga
     1441 cgagcctttc ttcaccaacc cagtcatgta caaaatcatc agagcccgca agagcattcc
     1501 tgatacctac gcagagcacc tcattgccag tggactcatg acccaggagg aggtttccga
     1561 cataaaaacc tcctactata ccaagttaaa tgaccacttg gccaatgtgg cccactacag
     1621 ccccccggcc actaacctgc aggcccgctg gcagggcctg gtgcagccag aagcatgtgt
     1681 caccacctgg gacacagggg tgcctctaga gctgctgcgg tttattggtg tgaagtccgt
     1741 ggaggttcca gaggaactgc aggtgcacag ccaccttcta aagatgtatg ttcagtcaag
     1801 aatggagaag gtgaagaatg gaagcggtct agactgggcc accgcagaga cacttgcctt
     1861 gggctcctta ctcgctcaag gtttcaatgt tcgtctgagc ggccaagatg ttggccgtgg
     1921 gacttttagt caaaggcatg ccatggtggt ttgccaggac actgatgatg cctacatccc
     1981 gctgaaccac atggacccca accagaaggg ttttctggag gttagcaaca gccccctgtc
     2041 agaagaggct gtcctgggat ttgaatatgg gatgagcatc gaaagcccca cgttgctgcc
     2101 cctctgggaa gctcagtttg gcgatttctt caatggagcc cagatcatct ttgacacatt
     2161 catctcagga ggagaggcca agtggctcct gcagagtggc ctcgtcatcc tccttccaca
     2221 tggctatgat ggagctgggc ctgagcactc atcttgtcgg atagagcgct tcttgcagat
     2281 gtgcgatagt gcagaagaag gtgtggacag cgacactgtg aacatgtttg tggtacaccc
     2341 gaccacccct gctcagtact tccatttgct aagaaggcag atgattcgga acttcagaaa
     2401 acctctcatt gttgcatctc caaaaatgtt actcaggtac cctgcagctg tgtcaactct
     2461 tgaggaaatg gcaccaggaa cagcattcaa acctgtcatt ggtgattcat cagtagaccc
     2521 aaaaaatgtt aaaaccctca tattctgctc cggcaaacat ttttatgccc tgctgaagca
     2581 aagagagtct ctggggacta agaaacatga ttttgccatc attcgactag aggagctctg
     2641 ccctttcccg ctggatgcat tacaacaaga gatgagcaaa tataaacatg ttcgagatgt
     2701 catctggagt caggaggagc cgcagaacat gggtccatgg tcttttgttt ctccaaggtt
     2761 tgaaaaacaa ctggcttgca ggctccgtct tgtaagccga ccccctttgc cagcacctgc
     2821 ggtaggaatt ggcacagtgc accagcagca gcacgaagac attctctcca agaccttcac
     2881 tcagtaaagt gctaagcaac agaagaaagt gcgctcctcc attccctccc ctccccctag
     2941 cttagcgtgg aagtctgcgt tcccctgaag ttctggactg atttgaacaa ctgaatctgg
     3001 agtacatgga ctacacaggg gaactgattt tataagtaca tgaaacagac agtaggtttc
     3061 acgctttgca ggacaatagt gtttgttatg ctttcgttcg atgtgagtga actggaagag
     3121 ggggtcatta ggcagtcggg ttcagattcc actgtaactg cctgtaaatg agcagagaac
     3181 ggtctttgac cagaacgtgg ggctgtgtat aggcagcccc aacactacct cttaattggt
     3241 tcaatacaca taactttcca tatctttcct cccttttaag gtcagcaata ttttcgtttt
     3301 aaatgtcatc ttagaaccgc tctacaaaag gttccaacag ataccactaa aactagacca
     3361 ttctggattc atgttctttc aggtttgatc cattatcctt aaaagtaaat gctgttaaat
     3421 actaactgct gattgtatgg tcgtctaacg ctgtacccat gcagtctcct gtagtccagg
     3481 ctggcctcac aatcactgta taactaagga tcaccttgaa cttctcatct tctta
//
