HOGA1 - 4-hydroxy-2-oxoglutarate aldolase 1 Gene

中文名称：4-羟基-2-酮戊二酸醛缩酶 1

种属: Homo sapiens

同用名: HP3; NPL2; DHDPS2; DHDPSL; C10orf65

基因 ID: 112817 | 基因类型: protein coding

关于 HOGA1

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,584,389-97,612,802 (from NCBI)

This gene has 4 transcripts (splice variants), 178 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in kidney (RPKM 27.4), liver (RPKM 9.9) and 5 other tissues.

功能概要

PMID:20797690 的作者克隆了该基因，同时在 10 号染色体区域中寻找与原发性高草酸脲 III 型相关的基因。他们指出，尽管编码的蛋白质被描述为线粒体二氢吡啶二羧酸合酶样酶，但它与大肠杆菌二氢吡啶二羧酸合酶 (Dhdps) 几乎没有同源性，尤其是在推定的底物结合区域。此外，在脊椎动物线粒体中，Dhdps 负责的赖氨酸生物合成和唾液酸代谢均未发生。他们提出该基因编码线粒体 4-羟基-2-氧代戊二酸醛缩酶 (EC 4.1.3.16) ，该酶催化羟脯氨酸代谢途径的最后一步，释放乙醛酸和丙酮酸。该基因主要在肝脏和肾脏中表达，并且在患有原发性高草酸脲 III 型的患者中发现了该基因的突变。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 11 月]

The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]

HOGA1 基因产物(2)

mRNA	Protein	Name
NM_001134670.2	NP_001128142.1	4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 2
NM_138413.4	NP_612422.2	4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 1

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables (R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IDA IDA: 通过直接分析推断	21998747	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	27499296	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	21998747	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in 4-hydroxyproline catabolic process	IDA IDA: 通过直接分析推断	21998747	GOA
involved in glyoxylate catabolic process	IMP IMP: 通过突变表型推断	20797690	GOA
involved in glyoxylate metabolic process	IDA IDA: 通过直接分析推断	21998747	GOA
involved in oxalate metabolic process	IMP IMP: 通过突变表型推断	21896830	GOA
involved in pyruvate biosynthetic process	IDA IDA: 通过直接分析推断	21998747	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

HOGA1 蛋白结构

DHDPS

0
100
200
300
327 a.a.

蛋白主名

其他名称

4-hydroxy-2-oxoglutarate aldolase, mitochondrial

DHDPS-like protein

HOGA1 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
种属内	HOGA1	Q86XE5	CIMAP1A	Homo sapiens	Q96PU9	Validated Y2H	32296183
种属内	HOGA1	Q86XE5	USP47	Homo sapiens	Q96K76	Anti Tag CoIP	33961781
种属内	HOGA1	Q86XE5	USP47	Homo sapiens	Q96K76	Anti Tag CoIP	28514442
种属内	HOGA1	Q86XE5	STARD7	Homo sapiens	Q9NQZ5	Anti Tag CoIP	27499296

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

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3	HP3
Ph Iii	Primary Hyperoxaluria Type Iii
Hyperoxaluria Primary 3	Hyperoxaluria Non-Hp1/Non-Hp2
Hyperoxaluria Non-Ph I/Ph Ii Form	Hyperoxaluria Primary Type Iii

Urolithiasis

Urinary Tract Infection

Urinary Tract Infections	Uti
Urinary Tract Infection Nos	Uti - [Urinary Tract Infection]
Uti Nos - [Urinary Tract Infection Nos]	Urosepsis Nos
E Coli Uti	E Coli Urinary Tract Infection
Escherichia Coli Uti

Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2	D-Glycerate Dehydrogenase Deficiency
Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency	HP2
Oxalosis Ii	Glyceric Aciduria
L-Glyceric Aciduria	Primary Hyperoxaluria, Type Ii
Oxalosis 2	Hyperoxaluria Primary 2
Hyperoxaluria Primary Type Ii	Ph2
Primary Hyperoxaluria Type Ii

Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency	2,8-Dihydroxyadenine Urolithiasis
APRTD	2,8-Dihydroxyadeninuria
Dihydroxyadeninuria	Urolithiasis, 2,8-Dihydroxyadenine
Urolithiasis, Dha	Nephrolithiasis, Dha
Dha Crystalline Nephropathy	Nephrolithiasis Dha
Urolithiasis Dha

Urethral Calculus

Calculus In Urethra	Urethral Stone
Urethrolithiasis	Urethra Calculi Impaction
Urethra Calculus Impaction	Urethra Stone
Calculous Urethritis	Urethral Calculi Impaction
Urethral Calculus Impaction

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Xanthinuria

Xanthine Dehydrogenase Deficiency	Xanthine Oxidase Deficiency
Hereditary Xanthinuria	Xanthic Urolithiasis
Xanthine Stone Disease	Xanthinuria, Type I
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase	Xdh Deficiency
Classic Xanthinuria	Xanthinuria, Type Ii
Classical Xanthinuria	Xanthine Calculus

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Inflammatory Bowel Disease 3

IBD3

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets	X-Linked Recessive Hypophosphatemic Rickets
XLRHR	Hypophosphatemic Rickets Disorders
Rickets Hypophosphatemic	Rickets, Hypophosphatemic, X-Linked Recessive
Familial Hypophosphatemic Rickets

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06282	HOGA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22556	Hoga1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	HOGA1	VGNC	VGNC:62829
Rattus norvegicus	HOGA1	RGD	RGD:1310475
Mus musculus	HOGA1	MGD	MGI:1914682
Bos taurus	HOGA1	VGNC	VGNC:29900
Canis familiaris	HOGA1	VGNC	VGNC:41736

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

HOGA1 - 4-hydroxy-2-oxoglutarate aldolase 1 Gene

关于 HOGA1

功能概要

HOGA1 基因产物(2)

HOGA1 蛋白结构

HOGA1 蛋白互作信息

关联疾病

直系同源

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HOGA1 - 4-hydroxy-2-oxoglutarate aldolase 1 Gene

关于 HOGA1

功能概要

HOGA1 基因产物(2)

HOGA1 蛋白结构

HOGA1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z