OGDHL

Protein identityUniProt · HPA

UniProt accession

Q9ULD0

Gene

OGDHL

Ensembl

ENSG00000197444

Chromosome

10

Canonical length

1010 aa

Protein class

Citric acid cycle related proteins, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1010 residues, UniProt reviewed canonical sequence.

>Q9ULD0|OGDHL
     1  MSQLRLLPSR LGVQAARLLA AHDVPVFGWR SRSSGPPATF PSSKGGGGSS YMEEMYFAWL
    61  ENPQSVHKSW DSFFREASEE AFSGSAQPRP PSVVHESRSA VSSRTKTSKL VEDHLAVQSL
   121  IRAYQIRGHH VAQLDPLGIL DADLDSFVPS DLITTIDKLA FYDLQEADLD KEFQLPTTTF
   181  IGGSENTLSL REIIRRLENT YCQHIGLEFM FINDVEQCQW IRQKFETPGV MQFSSEEKRT
   241  LLARLVRSMR FEDFLARKWS SEKRFGLEGC EVMIPALKTI IDKSSEMGIE NVILGMPHRG
   301  RLNVLANVIR KDLEQIFCQF DPKLEAADEG SGDVKYHLGM YHERINRVTN RNITLSLVAN
   361  PSHLEAVDPV VQGKTKAEQF YRGDAQGKKV MSILVHGDAA FAGQGVVYET FHLSDLPSYT
   421  TNGTVHVVVN NQIGFTTDPR MARSSPYPTD VARVVNAPIF HVNADDPEAV IYVCSVAAEW
   481  RNTFNKDVVV DLVCYRRRGH NEMDEPMFTQ PLMYKQIHRQ VPVLKKYADK LIAEGTVTLQ
   541  EFEEEIAKYD RICEEAYGRS KDKKILHIKH WLDSPWPGFF NVDGEPKSMT CPATGIPEDM
   601  LTHIGSVASS VPLEDFKIHT GLSRILRGRA DMTKNRTVDW ALAEYMAFGS LLKEGIHVRL
   661  SGQDVERGTF SHRHHVLHDQ EVDRRTCVPM NHLWPDQAPY TVCNSSLSEY GVLGFELGYA
   721  MASPNALVLW EAQFGDFHNT AQCIIDQFIS TGQAKWVRHN GIVLLLPHGM EGMGPEHSSA
   781  RPERFLQMSN DDSDAYPAFT KDFEVSQLYD CNWIVVNCST PANYFHVLRR QILLPFRKPL
   841  IIFTPKSLLR HPEAKSSFDQ MVSGTSFQRV IPEDGAAARA PEQVQRLIFC TGKVYYDLVK
   901  ERSSQDLEEK VAITRLEQIS PFPFDLIKQE AEKYPGAELA WCQEEHKNMG YYDYISPRFM
   961  TILRRARPIW YVGRDPAAAP ATGNRNTHLV SLKKFLDTAF NLQAFEGKTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OGDHL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

120 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OGDHL.

Disease | AllUniProt

Conditions OGDHL is implicated in, by any mechanism.

• Yoon-Bellen neurodevelopmental syndrome (YOBELN) MIM:619701

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Yoon-Bellen neurodevelopmental syndrome
• Abnormal brain morphology

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0

gnomAD missense Z

0.5

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 2-oxoglutarate metabolic process
• glycolytic process
• tricarboxylic acid cycle

Molecular functions

• metal ion binding
• oxoglutarate dehydrogenase (succinyl-transferring) activity
• thiamine pyrophosphate binding

Cellular components

• mitochondrial matrix
• mitochondrion
• oxoglutarate dehydrogenase complex

Protein domainsUniProt · Pfam · InterPro

• Dehydrogenase, E1 component
• Transketolase-like, pyrimidine-binding domain
• 2-oxoglutarate dehydrogenase E1 component
• Thiamin diphosphate-binding fold
• 2-oxoglutarate dehydrogenase E1 component/KDG, C-terminal
• 2-oxoglutarate dehydrogenase E1 component, N-terminal domain
• Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal domain superfamily
• Dehydrogenase E1 component
• Transketolase, pyrimidine binding domain
• 2-oxoglutarate dehydrogenase N-terminus
• 2-oxoglutarate dehydrogenase C-terminal

KeywordsUniProt

• Calcium
• Glycolysis
• Intellectual disability
• Magnesium
• Metal-binding
• Mitochondrion
• Oxidoreductase
• Thiamine pyrophosphate
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of OGDHL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OGDH
• STAT3