GenomeNet

Database: UniProt/SWISS-PROT
Entry: OGDHL_HUMAN
LinkDB: OGDHL_HUMAN
Original site: OGDHL_HUMAN 
ID   OGDHL_HUMAN             Reviewed;        1010 AA.
AC   Q9ULD0; A8K2G1; B4DKG2; B4E193; Q8TAN9; Q9NVA0;
DT   13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT   13-NOV-2007, sequence version 3.
DT   25-OCT-2017, entry version 132.
DE   RecName: Full=2-oxoglutarate dehydrogenase-like, mitochondrial;
DE            EC=1.2.4.-;
DE   AltName: Full=2-oxoglutarate dehydrogenase complex component E1-like;
DE            Short=OGDC-E1-like;
DE   AltName: Full=Alpha-ketoglutarate dehydrogenase-like;
DE   Flags: Precursor;
GN   Name=OGDHL; Synonyms=KIAA1290;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA   Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XV.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 6:337-345(1999).
RN   [2]
RP   SEQUENCE REVISION.
RA   Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RL   Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND
RP   VARIANT MET-637.
RC   TISSUE=Kidney, and Thalamus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164054; DOI=10.1038/nature02462;
RA   Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA   Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA   Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA   Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA   Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
RA   Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
RA   Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
RA   Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
RA   Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
RA   Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
RA   Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
RA   Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
RA   Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
RA   Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
RA   Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
RA   Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
RA   Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA   Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
RA   Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
RA   Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
RA   Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
RA   Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
RA   Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 10.";
RL   Nature 429:375-381(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP   LEU-511 AND ASN-573.
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA   Wang L., Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT   liver phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
CC   -!- COFACTOR:
CC       Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
CC         Evidence={ECO:0000250};
CC   -!- INTERACTION:
CC       P40763:STAT3; NbExp=2; IntAct=EBI-3940481, EBI-518675;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9ULD0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9ULD0-2; Sequence=VSP_041350;
CC       Name=3;
CC         IsoId=Q9ULD0-3; Sequence=VSP_041351;
CC   -!- SIMILARITY: Belongs to the alpha-ketoglutarate dehydrogenase
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA86604.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
DR   EMBL; AB033116; BAA86604.2; ALT_INIT; mRNA.
DR   EMBL; AK001713; BAA91855.1; -; mRNA.
DR   EMBL; AK290226; BAF82915.1; -; mRNA.
DR   EMBL; AK296551; BAG59174.1; -; mRNA.
DR   EMBL; AK303729; BAG64705.1; -; mRNA.
DR   EMBL; AC069546; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC026320; AAH26320.1; -; mRNA.
DR   CCDS; CCDS44390.1; -. [Q9ULD0-2]
DR   CCDS; CCDS44391.1; -. [Q9ULD0-3]
DR   CCDS; CCDS7234.1; -. [Q9ULD0-1]
DR   RefSeq; NP_001137468.1; NM_001143996.1. [Q9ULD0-2]
DR   RefSeq; NP_001137469.1; NM_001143997.1. [Q9ULD0-3]
DR   RefSeq; NP_001334748.1; NM_001347819.1. [Q9ULD0-1]
DR   RefSeq; NP_001334749.1; NM_001347820.1. [Q9ULD0-2]
DR   RefSeq; NP_001334750.1; NM_001347821.1. [Q9ULD0-3]
DR   RefSeq; NP_001334751.1; NM_001347822.1. [Q9ULD0-3]
DR   RefSeq; NP_060715.2; NM_018245.2. [Q9ULD0-1]
DR   RefSeq; XP_011538248.1; XM_011539946.1. [Q9ULD0-1]
DR   UniGene; Hs.17860; -.
DR   ProteinModelPortal; Q9ULD0; -.
DR   SMR; Q9ULD0; -.
DR   BioGrid; 120871; 7.
DR   DIP; DIP-61552N; -.
DR   IntAct; Q9ULD0; 4.
DR   MINT; MINT-3043902; -.
DR   STRING; 9606.ENSP00000363216; -.
DR   iPTMnet; Q9ULD0; -.
DR   PhosphoSitePlus; Q9ULD0; -.
DR   BioMuta; OGDHL; -.
DR   DMDM; 160419019; -.
DR   EPD; Q9ULD0; -.
DR   PaxDb; Q9ULD0; -.
DR   PeptideAtlas; Q9ULD0; -.
DR   PRIDE; Q9ULD0; -.
DR   DNASU; 55753; -.
DR   Ensembl; ENST00000374103; ENSP00000363216; ENSG00000197444. [Q9ULD0-1]
DR   Ensembl; ENST00000419399; ENSP00000401356; ENSG00000197444. [Q9ULD0-2]
DR   Ensembl; ENST00000432695; ENSP00000390240; ENSG00000197444. [Q9ULD0-3]
DR   GeneID; 55753; -.
DR   KEGG; hsa:55753; -.
DR   UCSC; uc001jie.4; human. [Q9ULD0-1]
DR   CTD; 55753; -.
DR   DisGeNET; 55753; -.
DR   EuPathDB; HostDB:ENSG00000197444.9; -.
DR   GeneCards; OGDHL; -.
DR   HGNC; HGNC:25590; OGDHL.
DR   HPA; HPA052497; -.
DR   MIM; 617513; gene.
DR   neXtProt; NX_Q9ULD0; -.
DR   OpenTargets; ENSG00000197444; -.
DR   PharmGKB; PA134878907; -.
DR   eggNOG; KOG0450; Eukaryota.
DR   eggNOG; COG0567; LUCA.
DR   GeneTree; ENSGT00530000063092; -.
DR   HOGENOM; HOG000259586; -.
DR   HOVERGEN; HBG001892; -.
DR   InParanoid; Q9ULD0; -.
DR   KO; K00164; -.
DR   OMA; DDSDAYP; -.
DR   OrthoDB; EOG091G025G; -.
DR   PhylomeDB; Q9ULD0; -.
DR   TreeFam; TF300695; -.
DR   BRENDA; 1.2.4.2; 2681.
DR   ChiTaRS; OGDHL; human.
DR   GenomeRNAi; 55753; -.
DR   PRO; PR:Q9ULD0; -.
DR   Proteomes; UP000005640; Chromosome 10.
DR   Bgee; ENSG00000197444; -.
DR   CleanEx; HS_OGDHL; -.
DR   Genevisible; Q9ULD0; HS.
DR   GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR   GO; GO:0045252; C:oxoglutarate dehydrogenase complex; IBA:GO_Central.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0004591; F:oxoglutarate dehydrogenase (succinyl-transferring) activity; IBA:GO_Central.
DR   GO; GO:0030976; F:thiamine pyrophosphate binding; IEA:InterPro.
DR   GO; GO:0006096; P:glycolytic process; IEA:UniProtKB-KW.
DR   GO; GO:0006099; P:tricarboxylic acid cycle; IBA:GO_Central.
DR   InterPro; IPR032106; 2-oxogl_dehyd_N.
DR   InterPro; IPR011603; 2oxoglutarate_DH_E1.
DR   InterPro; IPR001017; DH_E1.
DR   InterPro; IPR031717; KGD_C.
DR   InterPro; IPR029061; THDP-binding.
DR   InterPro; IPR005475; Transketolase-like_Pyr-bd.
DR   PANTHER; PTHR23152; PTHR23152; 1.
DR   Pfam; PF16078; 2-oxogl_dehyd_N; 1.
DR   Pfam; PF00676; E1_dh; 1.
DR   Pfam; PF16870; OxoGdeHyase_C; 1.
DR   Pfam; PF02779; Transket_pyr; 1.
DR   PIRSF; PIRSF000157; Oxoglu_dh_E1; 1.
DR   SMART; SM00861; Transket_pyr; 1.
DR   SUPFAM; SSF52518; SSF52518; 2.
DR   TIGRFAMs; TIGR00239; 2oxo_dh_E1; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Calcium; Complete proteome; Glycolysis;
KW   Metal-binding; Mitochondrion; Oxidoreductase; Polymorphism;
KW   Reference proteome; Thiamine pyrophosphate; Transit peptide.
FT   TRANSIT       1     73       Mitochondrion. {ECO:0000255}.
FT   CHAIN        74   1010       2-oxoglutarate dehydrogenase-like,
FT                                mitochondrial.
FT                                /FTId=PRO_0000310983.
FT   CA_BIND     141    145       {ECO:0000250}.
FT   COMPBIAS     45     48       Poly-Gly.
FT   METAL       141    141       Calcium. {ECO:0000250}.
FT   VAR_SEQ       1    209       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_041351.
FT   VAR_SEQ      69    125       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_041350.
FT   VARIANT     511    511       P -> L (in dbSNP:rs17856755).
FT                                {ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_037125.
FT   VARIANT     573    573       D -> N (in dbSNP:rs17852386).
FT                                {ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_037126.
FT   VARIANT     623    623       S -> C (in dbSNP:rs34877195).
FT                                /FTId=VAR_037127.
FT   VARIANT     637    637       T -> M (in dbSNP:rs11101224).
FT                                {ECO:0000269|PubMed:14702039}.
FT                                /FTId=VAR_037128.
FT   VARIANT     725    725       N -> S (in dbSNP:rs2293239).
FT                                /FTId=VAR_037129.
FT   CONFLICT     97     97       S -> G (in Ref. 3; BAA91855).
FT                                {ECO:0000305}.
FT   CONFLICT    319    319       Q -> R (in Ref. 3; BAA91855).
FT                                {ECO:0000305}.
SQ   SEQUENCE   1010 AA;  114481 MW;  95A836DE079E804C CRC64;
     MSQLRLLPSR LGVQAARLLA AHDVPVFGWR SRSSGPPATF PSSKGGGGSS YMEEMYFAWL
     ENPQSVHKSW DSFFREASEE AFSGSAQPRP PSVVHESRSA VSSRTKTSKL VEDHLAVQSL
     IRAYQIRGHH VAQLDPLGIL DADLDSFVPS DLITTIDKLA FYDLQEADLD KEFQLPTTTF
     IGGSENTLSL REIIRRLENT YCQHIGLEFM FINDVEQCQW IRQKFETPGV MQFSSEEKRT
     LLARLVRSMR FEDFLARKWS SEKRFGLEGC EVMIPALKTI IDKSSEMGIE NVILGMPHRG
     RLNVLANVIR KDLEQIFCQF DPKLEAADEG SGDVKYHLGM YHERINRVTN RNITLSLVAN
     PSHLEAVDPV VQGKTKAEQF YRGDAQGKKV MSILVHGDAA FAGQGVVYET FHLSDLPSYT
     TNGTVHVVVN NQIGFTTDPR MARSSPYPTD VARVVNAPIF HVNADDPEAV IYVCSVAAEW
     RNTFNKDVVV DLVCYRRRGH NEMDEPMFTQ PLMYKQIHRQ VPVLKKYADK LIAEGTVTLQ
     EFEEEIAKYD RICEEAYGRS KDKKILHIKH WLDSPWPGFF NVDGEPKSMT CPATGIPEDM
     LTHIGSVASS VPLEDFKIHT GLSRILRGRA DMTKNRTVDW ALAEYMAFGS LLKEGIHVRL
     SGQDVERGTF SHRHHVLHDQ EVDRRTCVPM NHLWPDQAPY TVCNSSLSEY GVLGFELGYA
     MASPNALVLW EAQFGDFHNT AQCIIDQFIS TGQAKWVRHN GIVLLLPHGM EGMGPEHSSA
     RPERFLQMSN DDSDAYPAFT KDFEVSQLYD CNWIVVNCST PANYFHVLRR QILLPFRKPL
     IIFTPKSLLR HPEAKSSFDQ MVSGTSFQRV IPEDGAAARA PEQVQRLIFC TGKVYYDLVK
     ERSSQDLEEK VAITRLEQIS PFPFDLIKQE AEKYPGAELA WCQEEHKNMG YYDYISPRFM
     TILRRARPIW YVGRDPAAAP ATGNRNTHLV SLKKFLDTAF NLQAFEGKTF
//
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