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  2. OGDHL - oxoglutarate dehydrogenase L Gene

OGDHL - oxoglutarate dehydrogenase L Gene

中文名称:氧化戊二酸脱氢酶 L

种属: Homo sapiens

同用名: YOBELN

基因 ID: 55753 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质类似于 OGDH 复合物中的氧化戊二酸脱氢酶 (OGDH) ,可降解葡萄糖和谷氨酸。该基因编码几种亚型,包括一些似乎定位于线粒体的亚型。编码的蛋白质下调 Akt 信号级联,可以抑制宫颈癌细胞的生长。[RefSeq 提供,2016 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
23152800 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OGDHL 蛋白结构

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.
蛋白主名 其他名称

2-oxoglutarate dehydrogenase-like, mitochondrial

2-oxoglutarate dehydrogenase complex component E1-like

OGDHL 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra OGDHL Q9ULD0 CDK4 Homo sapiens P11802
Y2H Prey Pooling
32296183
Intra OGDHL Q9ULD0 CDK4 Homo sapiens P11802
Y2H Array
32296183
Intra OGDHL Q9ULD0 STAT3 Homo sapiens P40763
Y2H
21988832
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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