Q9ULD0 (OGDHL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
2-oxoglutarate dehydrogenase-like, mitochondrial
EC=1.2.4.-

Alternative name(s):
2-oxoglutarate dehydrogenase complex component E1-like
Short name=OGDC-E1-like
Alpha-ketoglutarate dehydrogenase-like

Gene names

Name:	OGDHL
Synonyms:	KIAA1290

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1010 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Cofactor	Thiamine pyrophosphate By similarity.
Subcellular location	Mitochondrion matrix By similarity.
Sequence similarities	Belongs to the alpha-ketoglutarate dehydrogenase family.
Sequence caution	The sequence BAA86604.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Glycolysis
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Ligand	Thiamine pyrophosphate
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycolysis Inferred from electronic annotation. Source: UniProtKB-KW tricarboxylic acid cycle Inferred from electronic annotation. Source: InterPro
Cellular_component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	oxoglutarate dehydrogenase (succinyl-transferring) activity Inferred from electronic annotation. Source: InterPro thiamine pyrophosphate binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
STAT3	P40763	2	EBI-3940481,EBI-518675

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9ULD0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9ULD0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     69-125: Missing.

Isoform 3 (identifier: Q9ULD0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-209: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 73	73	Mitochondrion Potential
	Chain	74 – 1010	937	2-oxoglutarate dehydrogenase-like, mitochondrial		PRO_0000310983
Regions
	Compositional bias	45 – 48	4	Poly-Gly
Natural variations
	Alternative sequence	1 – 209	209	Missing in isoform 3.		VSP_041351
	Alternative sequence	69 – 125	57	Missing in isoform 2.		VSP_041350
	Natural variant	511	1	P → L. Ref.5 Corresponds to variant rs17856755 [ dbSNP | Ensembl ].		VAR_037125
	Natural variant	573	1	D → N. Ref.5 Corresponds to variant rs17852386 [ dbSNP | Ensembl ].		VAR_037126
	Natural variant	623	1	S → C. Corresponds to variant rs34877195 [ dbSNP | Ensembl ].		VAR_037127
	Natural variant	637	1	T → M. Ref.3 Corresponds to variant rs11101224 [ dbSNP | Ensembl ].		VAR_037128
	Natural variant	725	1	N → S. Corresponds to variant rs2293239 [ dbSNP | Ensembl ].		VAR_037129
Experimental info
	Sequence conflict	97	1	S → G in BAA91855. Ref.3
	Sequence conflict	319	1	Q → R in BAA91855. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 13, 2007. Version 3. Checksum: 95A836DE079E804C	FASTA	1,010	114,481
	10 20 30 40 50 60 MSQLRLLPSR LGVQAARLLA AHDVPVFGWR SRSSGPPATF PSSKGGGGSS YMEEMYFAWL 70 80 90 100 110 120 ENPQSVHKSW DSFFREASEE AFSGSAQPRP PSVVHESRSA VSSRTKTSKL VEDHLAVQSL 130 140 150 160 170 180 IRAYQIRGHH VAQLDPLGIL DADLDSFVPS DLITTIDKLA FYDLQEADLD KEFQLPTTTF 190 200 210 220 230 240 IGGSENTLSL REIIRRLENT YCQHIGLEFM FINDVEQCQW IRQKFETPGV MQFSSEEKRT 250 260 270 280 290 300 LLARLVRSMR FEDFLARKWS SEKRFGLEGC EVMIPALKTI IDKSSEMGIE NVILGMPHRG 310 320 330 340 350 360 RLNVLANVIR KDLEQIFCQF DPKLEAADEG SGDVKYHLGM YHERINRVTN RNITLSLVAN 370 380 390 400 410 420 PSHLEAVDPV VQGKTKAEQF YRGDAQGKKV MSILVHGDAA FAGQGVVYET FHLSDLPSYT 430 440 450 460 470 480 TNGTVHVVVN NQIGFTTDPR MARSSPYPTD VARVVNAPIF HVNADDPEAV IYVCSVAAEW 490 500 510 520 530 540 RNTFNKDVVV DLVCYRRRGH NEMDEPMFTQ PLMYKQIHRQ VPVLKKYADK LIAEGTVTLQ 550 560 570 580 590 600 EFEEEIAKYD RICEEAYGRS KDKKILHIKH WLDSPWPGFF NVDGEPKSMT CPATGIPEDM 610 620 630 640 650 660 LTHIGSVASS VPLEDFKIHT GLSRILRGRA DMTKNRTVDW ALAEYMAFGS LLKEGIHVRL 670 680 690 700 710 720 SGQDVERGTF SHRHHVLHDQ EVDRRTCVPM NHLWPDQAPY TVCNSSLSEY GVLGFELGYA 730 740 750 760 770 780 MASPNALVLW EAQFGDFHNT AQCIIDQFIS TGQAKWVRHN GIVLLLPHGM EGMGPEHSSA 790 800 810 820 830 840 RPERFLQMSN DDSDAYPAFT KDFEVSQLYD CNWIVVNCST PANYFHVLRR QILLPFRKPL 850 860 870 880 890 900 IIFTPKSLLR HPEAKSSFDQ MVSGTSFQRV IPEDGAAARA PEQVQRLIFC TGKVYYDLVK 910 920 930 940 950 960 ERSSQDLEEK VAITRLEQIS PFPFDLIKQE AEKYPGAELA WCQEEHKNMG YYDYISPRFM 970 980 990 1000 1010 TILRRARPIW YVGRDPAAAP ATGNRNTHLV SLKKFLDTAF NLQAFEGKTF
	Isoform 2 [UniParc]. Checksum: 70EB6121D698658F	FASTA	953	108,148
	10 20 30 40 50 60 MSQLRLLPSR LGVQAARLLA AHDVPVFGWR SRSSGPPATF PSSKGGGGSS YMEEMYFAWL 70 80 90 100 110 120 ENPQSVHKIR GHHVAQLDPL GILDADLDSF VPSDLITTID KLAFYDLQEA DLDKEFQLPT 130 140 150 160 170 180 TTFIGGSENT LSLREIIRRL ENTYCQHIGL EFMFINDVEQ CQWIRQKFET PGVMQFSSEE 190 200 210 220 230 240 KRTLLARLVR SMRFEDFLAR KWSSEKRFGL EGCEVMIPAL KTIIDKSSEM GIENVILGMP 250 260 270 280 290 300 HRGRLNVLAN VIRKDLEQIF CQFDPKLEAA DEGSGDVKYH LGMYHERINR VTNRNITLSL 310 320 330 340 350 360 VANPSHLEAV DPVVQGKTKA EQFYRGDAQG KKVMSILVHG DAAFAGQGVV YETFHLSDLP 370 380 390 400 410 420 SYTTNGTVHV VVNNQIGFTT DPRMARSSPY PTDVARVVNA PIFHVNADDP EAVIYVCSVA 430 440 450 460 470 480 AEWRNTFNKD VVVDLVCYRR RGHNEMDEPM FTQPLMYKQI HRQVPVLKKY ADKLIAEGTV 490 500 510 520 530 540 TLQEFEEEIA KYDRICEEAY GRSKDKKILH IKHWLDSPWP GFFNVDGEPK SMTCPATGIP 550 560 570 580 590 600 EDMLTHIGSV ASSVPLEDFK IHTGLSRILR GRADMTKNRT VDWALAEYMA FGSLLKEGIH 610 620 630 640 650 660 VRLSGQDVER GTFSHRHHVL HDQEVDRRTC VPMNHLWPDQ APYTVCNSSL SEYGVLGFEL 670 680 690 700 710 720 GYAMASPNAL VLWEAQFGDF HNTAQCIIDQ FISTGQAKWV RHNGIVLLLP HGMEGMGPEH 730 740 750 760 770 780 SSARPERFLQ MSNDDSDAYP AFTKDFEVSQ LYDCNWIVVN CSTPANYFHV LRRQILLPFR 790 800 810 820 830 840 KPLIIFTPKS LLRHPEAKSS FDQMVSGTSF QRVIPEDGAA ARAPEQVQRL IFCTGKVYYD 850 860 870 880 890 900 LVKERSSQDL EEKVAITRLE QISPFPFDLI KQEAEKYPGA ELAWCQEEHK NMGYYDYISP 910 920 930 940 950 RFMTILRRAR PIWYVGRDPA AAPATGNRNT HLVSLKKFLD TAFNLQAFEG KTF
	Isoform 3 [UniParc]. Checksum: 611D2A4D3E43C51B	FASTA	801	91,232
	10 20 30 40 50 60 MFINDVEQCQ WIRQKFETPG VMQFSSEEKR TLLARLVRSM RFEDFLARKW SSEKRFGLEG 70 80 90 100 110 120 CEVMIPALKT IIDKSSEMGI ENVILGMPHR GRLNVLANVI RKDLEQIFCQ FDPKLEAADE 130 140 150 160 170 180 GSGDVKYHLG MYHERINRVT NRNITLSLVA NPSHLEAVDP VVQGKTKAEQ FYRGDAQGKK 190 200 210 220 230 240 VMSILVHGDA AFAGQGVVYE TFHLSDLPSY TTNGTVHVVV NNQIGFTTDP RMARSSPYPT 250 260 270 280 290 300 DVARVVNAPI FHVNADDPEA VIYVCSVAAE WRNTFNKDVV VDLVCYRRRG HNEMDEPMFT 310 320 330 340 350 360 QPLMYKQIHR QVPVLKKYAD KLIAEGTVTL QEFEEEIAKY DRICEEAYGR SKDKKILHIK 370 380 390 400 410 420 HWLDSPWPGF FNVDGEPKSM TCPATGIPED MLTHIGSVAS SVPLEDFKIH TGLSRILRGR 430 440 450 460 470 480 ADMTKNRTVD WALAEYMAFG SLLKEGIHVR LSGQDVERGT FSHRHHVLHD QEVDRRTCVP 490 500 510 520 530 540 MNHLWPDQAP YTVCNSSLSE YGVLGFELGY AMASPNALVL WEAQFGDFHN TAQCIIDQFI 550 560 570 580 590 600 STGQAKWVRH NGIVLLLPHG MEGMGPEHSS ARPERFLQMS NDDSDAYPAF TKDFEVSQLY 610 620 630 640 650 660 DCNWIVVNCS TPANYFHVLR RQILLPFRKP LIIFTPKSLL RHPEAKSSFD QMVSGTSFQR 670 680 690 700 710 720 VIPEDGAAAR APEQVQRLIF CTGKVYYDLV KERSSQDLEE KVAITRLEQI SPFPFDLIKQ 730 740 750 760 770 780 EAEKYPGAEL AWCQEEHKNM GYYDYISPRF MTILRRARPI WYVGRDPAAA PATGNRNTHL 790 800 VSLKKFLDTA FNLQAFEGKT F

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT MET-637. Tissue: Kidney and Thalamus.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LEU-511 AND ASN-573. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB033116 mRNA. Translation: BAA86604.2. Different initiation. AK001713 mRNA. Translation: BAA91855.1. AK290226 mRNA. Translation: BAF82915.1. AK296551 mRNA. Translation: BAG59174.1. AK303729 mRNA. Translation: BAG64705.1. AC069546 Genomic DNA. No translation available. BC026320 mRNA. Translation: AAH26320.1.
IPI	IPI00643720. IPI00921283. IPI00921408.
RefSeq	NP_001137468.1. NM_001143996.1. NP_001137469.1. NM_001143997.1. NP_060715.2. NM_018245.2.
UniGene	Hs.17860.
3D structure databases
ProteinModelPortal	Q9ULD0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9ULD0. 1 interaction.
STRING	9606.ENSP00000363216.
PTM databases
PhosphoSite	Q9ULD0.
Polymorphism databases
DMDM	160419019.
Proteomic databases
PaxDb	Q9ULD0.
PRIDE	Q9ULD0.
Protocols and materials databases
DNASU	55753.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374103; ENSP00000363216; ENSG00000197444. ENST00000419399; ENSP00000401356; ENSG00000197444. ENST00000432695; ENSP00000390240; ENSG00000197444.
GeneID	55753.
KEGG	hsa:55753.
UCSC	uc001jie.3. human. uc009xoh.2. human. uc010qgt.2. human.
Organism-specific databases
CTD	55753.
GeneCards	GC10M050942.
HGNC	HGNC:25590. OGDHL.
HPA	HPA052497.
neXtProt	NX_Q9ULD0.
PharmGKB	PA134878907.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0567.
HOGENOM	HOG000259586.
HOVERGEN	HBG001892.
InParanoid	Q9ULD0.
KO	K00164.
OMA	EKVAITR.
OrthoDB	EOG4VQ9NH.
PhylomeDB	Q9ULD0.
Gene expression databases
Bgee	Q9ULD0.
CleanEx	HS_OGDHL.
Genevestigator	Q9ULD0.
Family and domain databases
InterPro	IPR011603. 2oxoglutarate_DH_E1. IPR001017. DH_E1. IPR005475. Transketolase-like_Pyr-bd. [Graphical view]
PANTHER	PTHR23152. PTHR23152. 1 hit.
Pfam	PF00676. E1_dh. 1 hit. PF02779. Transket_pyr. 1 hit. [Graphical view]
PIRSF	PIRSF000157. Oxoglu_dh_E1. 1 hit.
SMART	SM00861. Transket_pyr. 1 hit. [Graphical view]
TIGRFAMs	TIGR00239. 2oxo_dh_E1. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	55753.
NextBio	60749.

Entry information

Entry name

OGDHL_HUMAN

Accession

Primary (citable) accession number: Q9ULD0
Secondary accession number(s): A8K2G1 , B4DKG2, B4E193, Q8TAN9, Q9NVA0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	November 13, 2007
Last modified:	May 1, 2013
This is version 94 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.