LOCUS       NM_018245               3706 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens oxoglutarate dehydrogenase L (OGDHL), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_018245
VERSION     NM_018245.3
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 3706)
  AUTHORS   Lin,S.J., Vona,B., Lau,T., Huang,K., Zaki,M.S., Aldeen,H.S.,
            Karimiani,E.G., Rocca,C., Noureldeen,M.M., Saad,A.K., Petree,C.,
            Bartolomaeus,T., Abou Jamra,R., Zifarelli,G., Gotkhindikar,A.,
            Wentzensen,I.M., Liao,M., Cork,E.E., Varshney,P., Hashemi,N.,
            Mohammadi,M.H., Rad,A., Neira,J., Toosi,M.B., Knopp,C., Kurth,I.,
            Challman,T.D., Smith,R., Abdalla,A., Haaf,T., Suri,M., Joshi,M.,
            Chung,W.K., Moreno-De-Luca,A., Houlden,H., Maroofian,R. and
            Varshney,G.K.
  TITLE     Evaluating the association of biallelic OGDHL variants with
            significant phenotypic heterogeneity
  JOURNAL   Genome Med 15 (1), 102 (2023)
   PUBMED   38031187
  REMARK    GeneRIF: Evaluating the association of biallelic OGDHL variants
            with significant phenotypic heterogeneity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3706)
  AUTHORS   Dai,W., Li,Y., Sun,W., Ji,M., Bao,R., Chen,J., Xu,S., Dai,Y.,
            Chen,Y., Liu,W., Ge,C., Sun,W., Mo,W., Guo,C. and Xu,X.
  TITLE     Silencing of OGDHL promotes liver cancer metastasis by enhancing
            hypoxia inducible factor 1 alpha protein stability
  JOURNAL   Cancer Sci 114 (4), 1309-1323 (2023)
   PUBMED   36000493
  REMARK    GeneRIF: Silencing of OGDHL promotes liver cancer metastasis by
            enhancing hypoxia inducible factor 1 alpha protein stability.
REFERENCE   3  (bases 1 to 3706)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 3706)
  AUTHORS   Yap,Z.Y., Efthymiou,S., Seiffert,S., Vargas Parra,K., Lee,S.,
            Nasca,A., Maroofian,R., Schrauwen,I., Pendziwiat,M., Jung,S.,
            Bhoj,E., Striano,P., Mankad,K., Vona,B., Cuddapah,S., Wagner,A.,
            Alvi,J.R., Davoudi-Dehaghani,E., Fallah,M.S., Gannavarapu,S.,
            Lamperti,C., Legati,A., Murtaza,B.N., Nadeem,M.S., Rehman,M.U.,
            Saeidi,K., Salpietro,V., von Spiczak,S., Sandoval,A., Zeinali,S.,
            Zeviani,M., Reich,A., Jang,C., Helbig,I., Barakat,T.S., Ghezzi,D.,
            Leal,S.M., Weber,Y., Houlden,H. and Yoon,W.H.
  CONSRTM   SYNaPS Study Group; University of Washington Center for Mendelian
            Genomics
  TITLE     Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum
            disease featuring epilepsy, hearing loss, visual impairment, and
            ataxia
  JOURNAL   Am J Hum Genet 108 (12), 2368-2384 (2021)
   PUBMED   34800363
  REMARK    GeneRIF: Bi-allelic variants in OGDHL cause a neurodevelopmental
            spectrum disease featuring epilepsy, hearing loss, visual
            impairment, and ataxia.
REFERENCE   5  (bases 1 to 3706)
  AUTHORS   Mao,M., Huang,R.Z., Zheng,J., Liang,H.Q., Huang,W.H., Liu,J. and
            Li,J.H.
  TITLE     OGDHL closely associates with tumor microenvironment and can serve
            as a prognostic biomarker for papillary thyroid cancer
  JOURNAL   Cancer Med 10 (2), 728-736 (2021)
   PUBMED   33405394
  REMARK    GeneRIF: OGDHL closely associates with tumor microenvironment and
            can serve as a prognostic biomarker for papillary thyroid cancer.
REFERENCE   6  (bases 1 to 3706)
  AUTHORS   Khalaj-Kondori,M., Hosseinnejad,M., Hosseinzadeh,A., Behroz
            Sharif,S. and Hashemzadeh,S.
  TITLE     Aberrant hypermethylation of OGDHL gene promoter in sporadic
            colorectal cancer
  JOURNAL   Curr Probl Cancer 44 (1), 100471 (2020)
   PUBMED   30904169
  REMARK    GeneRIF: Aberrant hypermethylation of OGDHL gene promoter in
            sporadic colorectal cancer.
REFERENCE   7  (bases 1 to 3706)
  AUTHORS   Sen,T., Sen,N., Noordhuis,M.G., Ravi,R., Wu,T.C., Ha,P.K.,
            Sidransky,D. and Hoque,M.O.
  TITLE     OGDHL is a modifier of AKT-dependent signaling and NF-kappaB
            function
  JOURNAL   PLoS One 7 (11), e48770 (2012)
   PUBMED   23152800
  REMARK    GeneRIF: inactivation of OGDHL can contribute to cervical
            tumorigenesis via activation of the AKT signaling pathway and thus
            support it as an important anti-proliferative gene in cervical
            cancer.
REFERENCE   8  (bases 1 to 3706)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of gene polymorphisms with chronic kidney disease in
            Japanese individuals
  JOURNAL   Int J Mol Med 24 (4), 539-547 (2009)
   PUBMED   19724895
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3706)
  AUTHORS   Bunik,V., Kaehne,T., Degtyarev,D., Shcherbakova,T. and Reiser,G.
  TITLE     Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in
            brain, but not in heart
  JOURNAL   FEBS J 275 (20), 4990-5006 (2008)
   PUBMED   18783430
REFERENCE   10 (bases 1 to 3706)
  AUTHORS   Bunik,V.I. and Degtyarev,D.
  TITLE     Structure-function relationships in the 2-oxo acid dehydrogenase
            family: substrate-specific signatures and functional predictions
            for the 2-oxoglutarate dehydrogenase-like proteins
  JOURNAL   Proteins 71 (2), 874-890 (2008)
   PUBMED   18004749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA238469.1, BC026320.1,
            DA411851.1, AB033116.3 and BQ549806.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018245.2.
            
            Summary: The protein encoded by this gene is similar to
            oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which
            degrades glucose and glutamate. This gene encodes several isoforms,
            including some that appear to localize to mitochondria. The encoded
            protein down-regulates the AKT signaling cascade and can suppress
            the growth of cervical cancer cells. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 4 both encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK001713.1, SRR1803616.263597.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000374103.9/
                                                  ENSP00000363216.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               DA238469.1         57-181
            126-649             BC026320.1         101-624
            650-1129            DA411851.1         98-577
            1130-3629           AB033116.3         1049-3548
            3630-3706           BQ549806.1         421-497
FEATURES             Location/Qualifiers
     source          1..3706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..3706
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /note="oxoglutarate dehydrogenase L"
                     /db_xref="GeneID:55753"
                     /db_xref="HGNC:HGNC:25590"
                     /db_xref="MIM:617513"
     exon            1..85
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            86..290
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..3119
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /EC_number="1.2.4.2"
                     /note="isoform a is encoded by transcript variant 1;
                     2-oxoglutarate dehydrogenase-like, mitochondrial;
                     oxoglutarate dehydrogenase like; OGDC-E1-like;
                     alpha-ketoglutarate dehydrogenase-like; 2-oxoglutarate
                     dehydrogenase complex component E1-like"
                     /codon_start=1
                     /product="2-oxoglutarate dehydrogenase-like, mitochondrial
                     isoform a"
                     /protein_id="NP_060715.2"
                     /db_xref="CCDS:CCDS7234.1"
                     /db_xref="GeneID:55753"
                     /db_xref="HGNC:HGNC:25590"
                     /db_xref="MIM:617513"
                     /translation="MSQLRLLPSRLGVQAARLLAAHDVPVFGWRSRSSGPPATFPSSK
                     GGGGSSYMEEMYFAWLENPQSVHKSWDSFFREASEEAFSGSAQPRPPSVVHESRSAVS
                     SRTKTSKLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLDSFVPSDLITTIDKLA
                     FYDLQEADLDKEFQLPTTTFIGGSENTLSLREIIRRLENTYCQHIGLEFMFINDVEQC
                     QWIRQKFETPGVMQFSSEEKRTLLARLVRSMRFEDFLARKWSSEKRFGLEGCEVMIPA
                     LKTIIDKSSEMGIENVILGMPHRGRLNVLANVIRKDLEQIFCQFDPKLEAADEGSGDV
                     KYHLGMYHERINRVTNRNITLSLVANPSHLEAVDPVVQGKTKAEQFYRGDAQGKKVMS
                     ILVHGDAAFAGQGVVYETFHLSDLPSYTTNGTVHVVVNNQIGFTTDPRMARSSPYPTD
                     VARVVNAPIFHVNADDPEAVIYVCSVAAEWRNTFNKDVVVDLVCYRRRGHNEMDEPMF
                     TQPLMYKQIHRQVPVLKKYADKLIAEGTVTLQEFEEEIAKYDRICEEAYGRSKDKKIL
                     HIKHWLDSPWPGFFNVDGEPKSMTCPATGIPEDMLTHIGSVASSVPLEDFKIHTGLSR
                     ILRGRADMTKNRTVDWALAEYMAFGSLLKEGIHVRLSGQDVERGTFSHRHHVLHDQEV
                     DRRTCVPMNHLWPDQAPYTVCNSSLSEYGVLGFELGYAMASPNALVLWEAQFGDFHNT
                     AQCIIDQFISTGQAKWVRHNGIVLLLPHGMEGMGPEHSSARPERFLQMSNDDSDAYPA
                     FTKDFEVSQLYDCNWIVVNCSTPANYFHVLRRQILLPFRKPLIIFTPKSLLRHPEAKS
                     SFDQMVSGTSFQRVIPEDGAAARAPEQVQRLIFCTGKVYYDLVKERSSQDLEEKVAIT
                     RLEQISPFPFDLIKQEAEKYPGAELAWCQEEHKNMGYYDYISPRFMTILRRARPIWYV
                     GRDPAAAPATGNRNTHLVSLKKFLDTAFNLQAFEGKTF"
     exon            291..461
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            462..564
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            565..680
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            681..835
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            836..982
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1073
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1253
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1382
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1562
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1715
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..1818
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1947
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2098
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2099..2226
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2227..2405
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2406..2477
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2478..2603
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2604..2676
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2677..2840
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2841..2995
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     exon            2996..3706
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3684..3689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /note="hexamer: AATAAA"
     polyA_site      3706
                     /gene="OGDHL"
                     /gene_synonym="YOBELN"
                     /note="major polyA site"
ORIGIN      
        1 acggcgcgcg cgcacccctt ccgcgcagcc ccctgacctg cagcctccgg acctcgctgc
       61 agcgcggacc cggcccgccc gcccgaatga gtcagctgag gctgctgccg tcccgtcttg
      121 gggtacaggc tgcgaggctc ctggctgcac atgacgtccc ggtgtttggc tggcgcagca
      181 ggtcctccgg gccaccggcc accttcccaa gcagcaaagg tggaggcggc tccagttaca
      241 tggaggagat gtacttcgcc tggttggaaa acccccagag tgtccacaag tcctgggaca
      301 gcttcttcag ggaagccagc gaggaagcct tttctggctc tgctcagcca cggccccctt
      361 ctgttgtcca tgagagcagg tctgcagtct caagtcggac caagaccagc aaattggtgg
      421 aggaccacct ggctgtgcag tccctgatcc gggcctacca gatccggggt caccatgtgg
      481 cccagctgga ccccctgggc attctggatg cagacctgga ctcctttgtg ccctcagact
      541 tgatcacaac cattgataaa ctggccttct atgaccttca ggaggctgac cttgataagg
      601 agttccagct gccgacaacc accttcattg ggggctctga aaacaccctc tctctgcggg
      661 agatcattcg gcgcctggag aacacctact gccagcacat tggcctggag ttcatgttca
      721 tcaacgatgt ggagcagtgc cagtggatcc ggcagaagtt tgagacccct ggtgtgatgc
      781 agttctccag cgaggagaag cggaccctgc tggcccggct agtgcgctcc atgaggtttg
      841 aagacttcct ggcccggaaa tggtcctcag agaagcggtt tggcctggag ggctgtgaag
      901 tgatgattcc tgccctcaag accatcatcg acaaatccag cgagatgggg attgagaatg
      961 tcatcttggg gatgccacac aggggaaggc tgaacgtgct ggccaacgtg atccgcaagg
     1021 acctggagca gatcttctgc cagtttgacc ccaagctgga ggcggcggac gagggctccg
     1081 gggatgtcaa gtaccacctg ggcatgtacc atgagaggat caaccgcgtc accaaccgga
     1141 acatcactct gtcgctggtt gccaacccct cccacctgga ggcagtggac cctgtggtgc
     1201 aggggaagac aaaggcagag cagttctacc gtggagatgc ccagggcaag aaggtcatgt
     1261 ccatcctggt tcatggggac gccgcctttg ctggccaggg cgtggtatat gagaccttcc
     1321 acctgagcga cctgccctcc tacacgacca atggtaccgt gcacgtcgtc gtcaacaacc
     1381 agattggatt caccacagac ccccgaatgg cccgctcctc accatacccg accgacgtgg
     1441 cccgggtggt caatgcgcct atcttccatg tgaatgccga tgacccagag gctgtgatat
     1501 atgtgtgcag tgtggcagcc gaatggagaa acactttcaa caaagatgtt gtcgtggacc
     1561 tggtctgtta ccgccggcgt ggccacaatg agatggacga gcccatgttc acccagccgc
     1621 tcatgtacaa gcagatccac agacaggtgc ctgtgctgaa gaagtacgca gacaagctga
     1681 ttgccgaggg cacagtcacc ctgcaggagt ttgaggaaga aattgccaaa tacgaccgga
     1741 tctgtgagga ggcttatggc aggtccaagg ataaaaagat tctgcatata aagcactggt
     1801 tggactcccc ctggcctggc ttcttcaacg tagatgggga gcccaagagc atgacatgcc
     1861 cagccacggg gatccctgag gacatgctca cccacatcgg cagtgtggcc agctctgtgc
     1921 ccctggagga ctttaagatc cacactggcc tctctcgcat tctgcggggc cgtgcggaca
     1981 tgaccaagaa ccggacggtg gactgggcgt tggcagagta catggccttt ggctccctgc
     2041 tgaaggaagg catccacgtg cggctcagcg ggcaggatgt ggagaggggc acattcagtc
     2101 accggcacca tgttctccat gaccaggagg ttgaccgcag gacgtgtgtg cctatgaatc
     2161 atctctggcc tgaccaggcc ccgtacaccg tgtgcaacag ctccctctcg gagtacggag
     2221 tcctgggctt tgagctgggc tatgccatgg ccagccccaa tgccctggtc ctctgggagg
     2281 cccagtttgg ggacttccac aacacggccc agtgcatcat cgaccagttc atcagcaccg
     2341 gccaggccaa gtgggtgcgg cataatggca ttgtgctgct gctgccccat ggcatggaag
     2401 gcatgggccc agagcactcg tcagcgaggc ccgaaaggtt cctgcagatg agcaatgatg
     2461 actcggatgc ctaccctgca ttcaccaagg acttcgaggt gagccagctc tatgactgca
     2521 actggatcgt ggtcaactgc tccacaccgg ccaactactt ccacgtgctg cgccggcaga
     2581 tcctgctgcc cttccgcaag ccgctgatta tcttcacacc taaatctctg ctgaggcacc
     2641 cagaggccaa gtccagcttt gaccaaatgg tatccgggac cagcttccag cgggtgattc
     2701 ctgaagatgg ggccgcagca cgggcccctg agcaggtgca gcggctcatc ttctgcacgg
     2761 gaaaggtgta ctatgacctg gtgaaggagc ggagcagcca ggacctggag gagaaagtgg
     2821 ccatcacgcg cctggagcag atctctccat tccccttcga cctgatcaag caggaggcag
     2881 agaagtaccc aggtgcggag ctggcctggt gtcaggagga gcacaagaac atgggctact
     2941 atgactacat cagcccacgc ttcatgacca tcctgaggcg cgcacggccc atatggtatg
     3001 ttggccggga cccagcggct gcaccagcca caggaaacag gaacactcac ctggtgtcac
     3061 tgaagaagtt tctggatact gccttcaatc tccaggcctt tgagggcaag acattttaga
     3121 gctgggcaaa acctgtgtag gtctcgctgt gggtttgctg gggaccaagg gggtgatgaa
     3181 aaggggaggg gcggagctcc tgcccaggag aggggctgtg gggccccagg ataaaacaga
     3241 cacagtgaca gggccaagag ccagcactgc tggccttggt gtcatgccag aatctaccag
     3301 gactgaggga gccagaggag tcctataggc aggctactgt gctggagcat cccccagctg
     3361 ctcccatctt gctggaattt cttgggcggc ttctccacct gtatctcaag acagacaccc
     3421 gggggcctgt gtctgtggcc gctcccatcc cggcagccct ggctgctgct cgccccaccc
     3481 tcgcttatct gtagattcaa agcgatgttc tcttctgtgc tcttagaagt agggagttca
     3541 gcagtaacag ccaggtgaag cgaacctgct gggtgatttg tttgcgctct gttttatggg
     3601 gcattcctgc gagatgtgtc agcttctgtg tgaaatgcag ccacagctca tgtgtaccaa
     3661 agtagaaaac caaatcacag agaaataaaa acatgcttca gagaga
//
