OGDHL - oxoglutarate dehydrogenase L Gene

Also Known as YOBELN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55753

About OGDHL

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:49,734,641-49,762,379 (from NCBI)

This gene has 6 transcripts (splice variants), 177 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 82.8), liver (RPKM 20.1) and 3 other tissues.

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]

OGDHL Products (11)

mRNA Protein Name
NM_001143996.2 NP_001137468.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform b
NM_001143997.2 NP_001137469.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347819.1 NP_001334748.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform a
NM_001347820.1 NP_001334749.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform b
NM_001347821.2 NP_001334750.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347822.1 NP_001334751.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c
NM_001347823.1 NP_001334752.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform d
NM_001347824.2 NP_001334753.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform d
NM_001347825.2 NP_001334754.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform e
NM_001347826.1 NP_001334755.1 2-oxoglutarate dehydrogenase-like, mitochondrial isoform f
NM_018245.3 NP_060715.2 2-oxoglutarate dehydrogenase-like, mitochondrial isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
23152800 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OGDHL Protein Structure

E1_dh

E1_dh: Dehydrogenase E1 component (244 - 568)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (637 - 852)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1010 a.a.
Protein Preferred Names Protein Names

2-oxoglutarate dehydrogenase-like, mitochondrial

  • 2-oxoglutarate dehydrogenase complex component E1-like

OGDHL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
OGDHL Q9ULD0 CDK4 Homo sapiens P11802 32296183
Intra
OGDHL Q9ULD0 CDK4 Homo sapiens P11802 32296183
Intra
OGDHL Q9ULD0 STAT3 Homo sapiens P40763
Y2H
21988832
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Yoon-Bellen Neurodevelopmental Syndrome
  • YOBELN

Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
  • VETD

  • Heterozygotes For Tbx2 Variants

Charcot-Marie-Tooth Disease, Axonal, Type 2q
  • Charcot-Marie-Tooth Disease Axonal Type 2q

  • CMT2Q

  • Charcot-Marie-Tooth Neuropathy, Type 2q

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

  • Charcot-Marie-Tooth Neuropathy Type 2q

  • Charcot-Marie-Tooth Disease 2q

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Dyskeratosis Congenita, Autosomal Recessive 2
  • DKCB2

  • Autosomal Recessive Dyskeratosis Congenita 2

  • Dyskeratosis Congenita, Autosomal Recessive, 2

  • Dyskeratosis Congenita, Autosomal Recessive, Type 2

Lissencephaly 6
  • Lis6

Fibroosseous Pseudotumor Of Digits
  • Fibroosseous Digital Pseudotumor

  • Fibroosseous Pseudotumor Of The Digits

Immunodeficiency 18
  • IMD18

  • Cd3-Epsilon Deficiency

  • Immunodeficiency 18, Scid Variant

  • Cd3epsilon Deficiency

  • Immunodeficiency 18, Severe Combined Immunodeficiency Variant

  • Immunodeficiency, Type 18

Myasthenic Syndrome, Congenital, 6, Presynaptic
  • Familial Infantile Myasthenia

  • CMS6

  • Cmsea

  • Congenital Myasthenic Syndrome 6

  • Familial Infantile Myasthenia Gravis 2

  • Fimg2

  • Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

  • Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type Ia2, Formerly

  • Cms1a2, Formerly

  • Cms Ia2, Formerly

  • Myasthenia, Familial Infantile, Formerly

  • Fim, Formerly

  • Myasthenia Gravis, Familial Infantile, 2, Formerly

  • Fimg2, Formerly

  • Cms Ia2

  • Cms1a2

  • Congenital Myasthenic Syndrome 6, Presynaptic

  • Congenital Myasthenic Syndrome Type Ia2

  • Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

  • Fim

  • Cms1a

  • Cms-Ea

  • Cms Ia

  • Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type 1a

  • Congenital Myasthenic Syndrome Type Ia

  • Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus OGDHL MGD MGI:3616088
Bos taurus OGDHL VGNC VGNC:32407
Macaca mulatta OGDHL VGNC VGNC:81490
Rattus norvegicus OGDHL RGD RGD:1310916
Felis catus OGDHL VGNC VGNC:97544
Canis familiaris OGDHL VGNC VGNC:44104