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    OGDHL oxoglutarate dehydrogenase L [ Homo sapiens (human) ]

    Gene ID: 55753, updated on 27-Nov-2024

    Summary

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    Official Symbol
    OGDHLprovided by HGNC
    Official Full Name
    oxoglutarate dehydrogenase Lprovided by HGNC
    Primary source
    HGNC:HGNC:25590
    See related
    Ensembl:ENSG00000197444 MIM:617513; AllianceGenome:HGNC:25590
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    YOBELN
    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]
    Expression
    Biased expression in kidney (RPKM 82.8), liver (RPKM 20.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OGDHL in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49734641..49762379, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50583410..50612062, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50942687..50970425, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50819328-50820224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50820225-50821122 Neighboring gene solute carrier family 18 member A3 Neighboring gene choline O-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856078-50856929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856930-50857780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50858633-50859483 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:50897886-50898488 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:50898489-50899090 Neighboring gene chromosome 10 open reading frame 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50965991-50966502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50966503-50967012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2364 Neighboring gene mitogen-activated protein kinase 6 pseudogene 6 Neighboring gene ribosomal protein L21 pseudogene 89

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Silencing of OGDHL promotes liver cancer metastasis by enhancing hypoxia inducible factor 1 α protein stability. Dai W, et al. Cancer Sci, 2023 Apr. PMID 36000493, Free PMC Article
    2. OGDHL is a modifier of AKT-dependent signaling and NF-κB function. Sen T, et al. PLoS One, 2012. PMID 23152800, Free PMC Article
    3. Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer. Khalaj-Kondori M, et al. Curr Probl Cancer, 2020 Feb. PMID 30904169
    4. OGDHL Expression as a Prognostic Biomarker for Liver Cancer Patients. Jiao Y, et al. Dis Markers, 2019. PMID 31781311, Free PMC Article
    5. OGDHL closely associates with tumor microenvironment and can serve as a prognostic biomarker for papillary thyroid cancer. Mao M, et al. Cancer Med, 2021 Jan. PMID 33405394, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
      Title: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
    2. Silencing of OGDHL promotes liver cancer metastasis by enhancing hypoxia inducible factor 1 alpha protein stability.
      Title: Silencing of OGDHL promotes liver cancer metastasis by enhancing hypoxia inducible factor 1 α protein stability.
    3. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
      Title: Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
    4. OGDHL silencing promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
      Title: OGDHL silencing promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
    5. OGDHL closely associates with tumor microenvironment and can serve as a prognostic biomarker for papillary thyroid cancer.
      Title: OGDHL closely associates with tumor microenvironment and can serve as a prognostic biomarker for papillary thyroid cancer.
    6. Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer.
      Title: Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer.
    7. A Novel Oxoglutarate Dehydrogenase-Like Mediated miR-214/TWIST1 Negative Feedback Loop Inhibits Pancreatic Cancer Growth and Metastasis.
      Title: A Novel Oxoglutarate Dehydrogenase-Like Mediated miR-214/TWIST1 Negative Feedback Loop Inhibits Pancreatic Cancer Growth and Metastasis.
    8. Authors identified 29 genes showing promising associations with breast cancer risk. Authors replicated the association for 2 genes, OGDHL and BRCA2, at a Bonferroni-corrected p < 0.05, by genotyping an independent set of samples from 1,628 breast cancer cases and 1,943 controls. The association for OGDHL was primarily driven by three deleterious variants (p.Val827Met, p.Pro839Leu, p.Phe836Ser; p < 0.01 for all).
      Title: Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.
    9. Low OGDHL expression is associated with Hepatocellular Carcinoma.
      Title: OGDHL Expression as a Prognostic Biomarker for Liver Cancer Patients.
    10. 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.
      Title: OGDHL is a modifier of AKT-dependent signaling and NF-κB function.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Yoon-Bellen neurodevelopmental syndrome
    MedGen: C5562066 OMIM: 619701 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxoglutarate dehydrogenase (succinyl-transferring) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thiamine pyrophosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tricarboxylic acid cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of oxoglutarate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    2-oxoglutarate dehydrogenase-like, mitochondrial
    Names
    2-oxoglutarate dehydrogenase complex component E1-like
    OGDC-E1-like
    alpha-ketoglutarate dehydrogenase-like
    oxoglutarate dehydrogenase like
    NP_001137468.1
    NP_001137469.1
    NP_001334748.1
    NP_001334749.1
    NP_001334750.1
    NP_001334751.1
    NP_001334752.1
    NP_001334753.1
    NP_001334754.1
    NP_001334755.1
    NP_060715.2
    XP_011538248.1
    XP_047281422.1
    XP_054222251.1
    XP_054222252.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052636.1 RefSeqGene

      Range
      5057..32739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143996.2 → NP_001137468.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001137468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame internal exon, compared to variant 1, resulting in a shorter isoform (b), compared to isoform a. Variants 2 and 5 both encode the same isoform (b).
      Source sequence(s)
      AK296551, BM504223, BQ549806, DA238469, DA411851
      Consensus CDS
      CCDS44390.1
      UniProtKB/Swiss-Prot
      Q9ULD0
      Related
      ENSP00000401356.1, ENST00000419399.4
      Conserved Domains (5) summary
      PRK09404
      Location:51 → 944
      sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed
      cd02016
      Location:194 → 457
      TPP_E1_OGDC_like; Thiamine pyrophosphate (TPP) family, E1 of OGDC-like subfamily, TPP-binding module; composed of proteins similar to the E1 component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDC). OGDC catalyzes the oxidative decarboxylation of ...
      pfam02779
      Location:579 → 793
      Transket_pyr; Transketolase, pyrimidine binding domain
      pfam16078
      Location:51 → 68
      2-oxogl_dehyd_N; 2-oxoglutarate dehydrogenase N-terminus
      pfam16870
      Location:800 → 943
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    2. NM_001143997.2 → NP_001137469.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001137469.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform c has a shorter N-terminus, compared to isoform a. Variants 3, 6, and 7 all encode the same isoform (c).
      Source sequence(s)
      AK303729, BP209348, BQ549806, DA416844
      Consensus CDS
      CCDS44391.1
      UniProtKB/Swiss-Prot
      Q9ULD0
      Related
      ENSP00000390240.1, ENST00000432695.2
      Conserved Domains (4) summary
      PRK09404
      Location:1 → 792
      sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed
      cd02016
      Location:42 → 305
      TPP_E1_OGDC_like; Thiamine pyrophosphate (TPP) family, E1 of OGDC-like subfamily, TPP-binding module; composed of proteins similar to the E1 component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDC). OGDC catalyzes the oxidative decarboxylation of ...
      pfam02779
      Location:427 → 641
      Transket_pyr; Transketolase, pyrimidine binding domain
      pfam16870
      Location:648 → 791
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    3. NM_001347819.1 → NP_001334748.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 1, encodes the longest isoform (a).
      Source sequence(s)
      AC069546
      Consensus CDS
      CCDS7234.1
      UniProtKB/Swiss-Prot
      A8K2G1, B4DKG2, B4E193, Q8TAN9, Q9NVA0, Q9ULD0

    4. NM_001347820.1 → NP_001334749.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AC069546
      Consensus CDS
      CCDS44390.1
      UniProtKB/Swiss-Prot
      Q9ULD0

    5. NM_001347821.2 → NP_001334750.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 3 and 7, encodes isoform c.
      Source sequence(s)
      AC069546
      Consensus CDS
      CCDS44391.1
      UniProtKB/Swiss-Prot
      Q9ULD0

    6. NM_001347822.1 → NP_001334751.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 3 and 6, encodes isoform c.
      Source sequence(s)
      AC069546
      Consensus CDS
      CCDS44391.1
      UniProtKB/Swiss-Prot
      Q9ULD0

    7. NM_001347823.1 → NP_001334752.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 9, encodes isoform d.
      Source sequence(s)
      AC069546

    8. NM_001347824.2 → NP_001334753.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variant 8, encodes isoform d.
      Source sequence(s)
      AC069546

    9. NM_001347825.2 → NP_001334754.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform e

      Status: REVIEWED

      Source sequence(s)
      AC069546

    10. NM_001347826.1 → NP_001334755.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform f

      Status: REVIEWED

      Source sequence(s)
      AC069546

    11. NM_018245.3 → NP_060715.2  2-oxoglutarate dehydrogenase-like, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_060715.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 4 both encode the same isoform (a).
      Source sequence(s)
      AB033116, BC026320, BQ549806, DA238469, DA411851
      Consensus CDS
      CCDS7234.1
      UniProtKB/Swiss-Prot
      A8K2G1, B4DKG2, B4E193, Q8TAN9, Q9NVA0, Q9ULD0
      Related
      ENSP00000363216.4, ENST00000374103.9
      Conserved Domains (5) summary
      PRK09404
      Location:51 → 1001
      sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed
      cd02016
      Location:251 → 514
      TPP_E1_OGDC_like; Thiamine pyrophosphate (TPP) family, E1 of OGDC-like subfamily, TPP-binding module; composed of proteins similar to the E1 component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDC). OGDC catalyzes the oxidative decarboxylation of ...
      pfam02779
      Location:636 → 850
      Transket_pyr; Transketolase, pyrimidine binding domain
      pfam16078
      Location:51 → 76
      2-oxogl_dehyd_N; 2-oxoglutarate dehydrogenase N-terminus
      pfam16870
      Location:857 → 1000
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    RNA

    1. NR_144682.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069546

    2. NR_144683.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069546

    3. NR_144684.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069546

    4. NR_144685.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069546

    5. NR_144686.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069546

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      49734641..49762379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539946.3 → XP_011538248.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011538248.1

      UniProtKB/Swiss-Prot
      A8K2G1, B4DKG2, B4E193, Q8TAN9, Q9NVA0, Q9ULD0
      Conserved Domains (5) summary
      PRK09404
      Location:51 → 1001
      sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed
      cd02016
      Location:251 → 514
      TPP_E1_OGDC_like; Thiamine pyrophosphate (TPP) family, E1 of OGDC-like subfamily, TPP-binding module; composed of proteins similar to the E1 component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDC). OGDC catalyzes the oxidative decarboxylation of ...
      pfam02779
      Location:636 → 850
      Transket_pyr; Transketolase, pyrimidine binding domain
      pfam16078
      Location:51 → 76
      2-oxogl_dehyd_N; 2-oxoglutarate dehydrogenase N-terminus
      pfam16870
      Location:857 → 1000
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    2. XM_047425466.1 → XP_047281422.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50583410..50612062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366276.1 → XP_054222251.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A8K2G1, B4DKG2, B4E193, Q8TAN9, Q9NVA0, Q9ULD0

    2. XM_054366277.1 → XP_054222252.1  2-oxoglutarate dehydrogenase-like, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULD0.3 GenPept UniProtKB/Swiss-Prot:Q9ULD0

    Gene LinkOut

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