OGDHL oxoglutarate dehydrogenase L [Homo sapiens (human)] - Gene

Summary

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

Location:: 10q11.23

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (49734641..49762379, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (50583410..50612062, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (50942687..50970425, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Title: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
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.
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.
OGDHL silencing promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
Title: OGDHL silencing promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
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.
Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer.
Title: Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer.
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.
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.
Low OGDHL expression is associated with Hepatocellular Carcinoma.
Title: OGDHL Expression as a Prognostic Biomarker for Liver Cancer Patients.
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

STS-T96627 (e-PCR)
- UniSTS:74056

D10S1724 (e-PCR), detects polymorphism
- UniSTS:55121

RH44536 (e-PCR)
- UniSTS:7013

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
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

EC 1.2.4.2

NP_001137469.1

EC 1.2.4.2

NP_001334748.1

EC 1.2.4.2

NP_001334749.1

EC 1.2.4.2

NP_001334750.1

EC 1.2.4.2

NP_001334751.1

EC 1.2.4.2

NP_001334752.1

EC 1.2.4.2

NP_001334753.1

EC 1.2.4.2

NP_001334754.1

EC 1.2.4.2

NP_001334755.1

EC 1.2.4.2

NP_060715.2

EC 1.2.4.2

XP_011538248.1

EC 1.2.4.2

XP_047281422.1

EC 1.2.4.2

XP_054222251.1

EC 1.2.4.2

XP_054222252.1

EC 1.2.4.2

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

NG_052636.1 RefSeqGene

Range

5057..32739

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC069546
NM_001347826.1 → NP_001334755.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform f

Status: REVIEWED

Source sequence(s)

AC069546
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

NR_144682.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069546
NR_144683.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069546
NR_144684.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069546
NR_144685.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069546
NR_144686.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069546

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

49734641..49762379 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

50583410..50612062 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K2G1, B4DKG2, B4E193, Q8TAN9, Q9NVA0, Q9ULD0
XM_054366277.1 → XP_054222252.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform X2