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] See more...

Aliases for OGDHL Gene

Aliases for OGDHL Gene

  • Oxoglutarate Dehydrogenase L 2 3
  • Oxoglutarate Dehydrogenase Like 2 3 5
  • 2-Oxoglutarate Dehydrogenase Complex Component E1-Like 3 4
  • 2-Oxoglutarate Dehydrogenase-Like, Mitochondrial 3 4
  • Alpha-Ketoglutarate Dehydrogenase-Like 3 4
  • OGDC-E1-Like 3 4
  • EC 1.2.4.2 51
  • EC 1.2.4.- 4
  • FLJ10851 2
  • KIAA1290 4
  • OGDHL 5

External Ids for OGDHL Gene

Previous GeneCards Identifiers for OGDHL Gene

  • GC10M050288
  • GC10M050612
  • GC10M050942
  • GC10M045207

Summaries for OGDHL Gene

Entrez Gene Summary for OGDHL 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]

GeneCards Summary for OGDHL Gene

OGDHL (Oxoglutarate Dehydrogenase L) is a Protein Coding gene. Among its related pathways are Metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDH.

Additional gene information for OGDHL Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OGDHL Gene

Genomics for OGDHL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OGDHL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J049761 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 622 +0.4 378 1.6 SP1 HNRNPL CREB1 GATAD2A REST ZNF629 TFE3 NFKBIZ KDM1A ZNF7 OGDHL TIMM23B-AGAP6 AGAP6 ERCC6 WASHC2A RNA5SP317 RF02543-010 C10orf53
GH10J049690 Enhancer 0.5 ENCODE 10.8 +72.0 72009 0.2 KDM1A YY1 NANOG POLR2A EZH2 SP1 POU5F1 EGR1 OGDHL MAPK6P6 SLC18A3 CHAT RF02543-010 C10orf53
GH10J049689 Enhancer 0.5 ENCODE 10.8 +72.3 72309 0.2 KDM1A YY1 POLR2A EZH2 EGR1 OGDHL MAPK6P6 SLC18A3 CHAT RF02543-010 C10orf53
GH10J049783 Enhancer 0.4 Ensembl 12.4 -21.8 -21822 1.2 CTCF RAD21 SMARCA4 OGDHL AGAP6 piR-57460-055 piR-38716-013 TIMM23B
GH10J049701 Enhancer 0.7 Ensembl ENCODE 6.1 +61.0 60953 0.8 CTCF ZNF341 GLIS1 ZNF143 SMARCA4 RAD21 SIX5 MZF1 RF02543-010 OGDHL C10orf53
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OGDHL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OGDHL

Top Transcription factor binding sites by QIAGEN in the OGDHL gene promoter:
  • E47
  • GATA-3
  • HTF
  • N-Myc
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • S8
  • Tal-1beta

Genomic Locations for OGDHL Gene

Genomic Locations for OGDHL Gene
chr10:49,734,641-49,762,379
(GRCh38/hg38)
Size:
27,739 bases
Orientation:
Minus strand
chr10:50,942,687-50,970,425
(GRCh37/hg19)
Size:
27,739 bases
Orientation:
Minus strand

Genomic View for OGDHL Gene

Genes around OGDHL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OGDHL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OGDHL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OGDHL Gene

Proteins for OGDHL Gene

  • Protein details for OGDHL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULD0-OGDHL_HUMAN
    Recommended name:
    2-oxoglutarate dehydrogenase-like, mitochondrial
    Protein Accession:
    Q9ULD0
    Secondary Accessions:
    • A8K2G1
    • B4DKG2
    • B4E193
    • Q8TAN9
    • Q9NVA0

    Protein attributes for OGDHL Gene

    Size:
    1010 amino acids
    Molecular mass:
    114481 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86604.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for OGDHL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OGDHL Gene

Selected DME Specific Peptides for OGDHL Gene

Q9ULD0:
  • RLSGQDV
  • GQAKWVR
  • KSLLRHP
  • VVNNQIGFTTDPRMARSSPYPTDVARVVNAPIFHVN
  • GPEHSSAR
  • GKTKAEQFY
  • GMPHRGRLNVLANV
  • LPTTTFIGG
  • HLAVQSLIRAYQIRGHHVAQLDPLGILDADLDS
  • LREIIRRLE
  • GTVHVVVNNQIGFTTDPRMARSSPYPTDVARVVNAPI
  • QLYDCNW
  • EGSGDVKYHLG
  • RKWSSEKRFGLEGCEV
  • FQRVIPE
  • RRQILLPFRKPLI
  • TPKSLLR
  • LSLVANPSHLE
  • RTVDWALAEYM
  • VLGFELG
  • VANPSHLEAVDPVV
  • DLVCYRR
  • RGTFSHRH
  • DCNWIVVNCS
  • KLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLD
  • FCTGKVYY
  • GRDPAAAPATGN
  • DEPMFTQPLMY
  • SVHKSWD

Post-translational modifications for OGDHL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for OGDHL Gene

Gene Families for OGDHL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OGDHL Gene

InterPro:
Blocks:
  • Transketolase, central region
ProtoNet:

Suggested Antigen Peptide Sequences for OGDHL Gene

GenScript: Design optimal peptide antigens:
  • Alpha-ketoglutarate dehydrogenase-like (OGDHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULD0

UniProtKB/Swiss-Prot:

OGDHL_HUMAN :
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
Family:
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
genes like me logo Genes that share domains with OGDHL: view

Function for OGDHL Gene

Molecular function for OGDHL Gene

GENATLAS Biochemistry:
alpha-ketoglutarate dehydrogenase,E1k subunit-like sequence

Enzyme Numbers (IUBMB) for OGDHL Gene

Phenotypes From GWAS Catalog for OGDHL Gene

Gene Ontology (GO) - Molecular Function for OGDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity IBA 21873635
GO:0005515 protein binding IPI 21988832
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
GO:0030976 thiamine pyrophosphate binding IEA --
genes like me logo Genes that share ontologies with OGDHL: view
genes like me logo Genes that share phenotypes with OGDHL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OGDHL

CRISPR Products

miRNA for OGDHL Gene

miRTarBase miRNAs that target OGDHL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OGDHL

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OGDHL Gene

Localization for OGDHL Gene

Subcellular locations from UniProtKB/Swiss-Prot for OGDHL Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OGDHL gene
Compartment Confidence
mitochondrion 4
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OGDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix IEA --
GO:0045252 oxoglutarate dehydrogenase complex IBA 21873635
genes like me logo Genes that share ontologies with OGDHL: view

Pathways & Interactions for OGDHL Gene

PathCards logo

SuperPathways for OGDHL Gene

genes like me logo Genes that share pathways with OGDHL: view

Pathways by source for OGDHL Gene

Gene Ontology (GO) - Biological Process for OGDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006096 glycolytic process IEA --
GO:0006099 tricarboxylic acid cycle IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with OGDHL: view

No data available for SIGNOR curated interactions for OGDHL Gene

Drugs & Compounds for OGDHL Gene

(8) Drugs for OGDHL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
NADH Approved Nutra 0
2-Ketobutyric acid Experimental Pharma 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0
Succinyl-CoA Experimental Pharma 0

(5) Additional Compounds for OGDHL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Carboxy-1-hydroxypropylthiamine diphosphate
  • 2-(3-Carboxy-1-hydroxypropyl)thiamine diphosphate
  • 3-Carboxy-1-hydroxypropyl-THPP
  • 2-(3-Carboxy-1-hydroxypropyl)thiamine diphosphoric acid
  • 3-Carboxy-1-hydroxypropylthiamine diphosphoric acid
  • 3-[(4-amino-2-Methylpyrimidin-5-yl)methyl]-2-(3-carboxy-1-hydroxypropyl)-5-(2-diphosphoethyl)-4-methyl-1,3-thiazol-3-ium
Glutaryl-coa
  • Glutaryl-coenzyme A
103192-48-9
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Oxoadipic acid
  • 2-Oxoadipate
  • 2-Oxoadipic acid
  • Oxoadipate
  • 2-keto-Adipate
  • 2-Ketoadipate
3184-35-8
S-Glutaryldihydrolipoamide
  • S-Glutaryldihydrolipoamide-e
genes like me logo Genes that share compounds with OGDHL: view

Transcripts for OGDHL Gene

mRNA/cDNA for OGDHL Gene

11 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OGDHL

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OGDHL Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a ·
SP1: - - - - - - -
SP2:
SP3:
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - -
SP8:
SP9: - - - - - - - -
SP10: - - -
SP11:
SP12:
SP13: - - -
SP14: - - - -
SP15: - - -
SP16: - - -
SP17:

ExUns: 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c · 27d
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for OGDHL Gene

GeneLoc Exon Structure for
OGDHL

Expression for OGDHL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OGDHL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Kidney (Urinary System)
  • Heart (Cardiovascular System)

mRNA differential expression in normal tissues according to GTEx for OGDHL Gene

This gene is overexpressed in Kidney - Cortex (x8.8) and Liver (x6.0).

Protein differential expression in normal tissues from HIPED for OGDHL Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (24.2), Brain (16.9), and Frontal cortex (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OGDHL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OGDHL

SOURCE GeneReport for Unigene cluster for OGDHL Gene:

Hs.17860

Evidence on tissue expression from TISSUES for OGDHL Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Liver(4.5)
genes like me logo Genes that share expression patterns with OGDHL: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OGDHL Gene

Orthologs for OGDHL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OGDHL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OGDHL 30 31
  • 96.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OGDHL 30 31
  • 90.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OGDHL 30 31
  • 90.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OGDHL 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ogdhl 30
  • 87.92 (n)
Mouse
(Mus musculus)
Mammalia Ogdhl 30 17 31
  • 87.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OGDHL 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OGDHL 30 31
  • 74.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OGDHL 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ogdhl 30
  • 72.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii OGDHL 31
  • 78 (a)
OneToOne
ogdhl 30
  • 73.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nc73EF 31
  • 56 (a)
ManyToMany
CG33791 31
  • 42 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ogdh-1 31
  • 55 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 31
  • 44 (a)
OneToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.506 30
Rice
(Oryza sativa)
Liliopsida Os.13926 30
Wheat
(Triticum aestivum)
Liliopsida Ta.2604 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7934 31
  • 63 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4680 30
Species where no ortholog for OGDHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for OGDHL Gene

ENSEMBL:
Gene Tree for OGDHL (if available)
TreeFam:
Gene Tree for OGDHL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OGDHL: view image

Paralogs for OGDHL Gene

Paralogs for OGDHL Gene

(2) SIMAP similar genes for OGDHL Gene using alignment to 1 proteins:

  • OGDHL_HUMAN
genes like me logo Genes that share paralogs with OGDHL: view

Variants for OGDHL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OGDHL Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
710350 Likely Benign: not provided 49,736,444(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
719468 Benign: not provided 49,735,330(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
722657 Benign: not provided 49,742,972(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
730706 Likely Benign: not provided 49,744,042(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
738260 Benign: not provided 49,746,822(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for OGDHL Gene

Structural Variations from Database of Genomic Variants (DGV) for OGDHL Gene

Variant ID Type Subtype PubMed ID
esv2588189 CNV insertion 19546169
esv3401087 CNV duplication 20981092
nsv1042677 CNV loss 25217958
nsv1048905 CNV gain 25217958

Variation tolerance for OGDHL Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OGDHL Gene

Human Gene Mutation Database (HGMD)
OGDHL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OGDHL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OGDHL Gene

Disorders for OGDHL Gene

Additional Disease Information for OGDHL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for OGDHL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OGDHL Gene

Publications for OGDHL Gene

  1. Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in brain, but not in heart. (PMID: 18783430) Bunik V … Reiser G (The FEBS journal 2008) 2 3 23
  2. 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. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41

Products for OGDHL Gene

Sources for OGDHL Gene