1. Gene
  2. GRHPR - glyoxylate and hydroxypyruvate reductase Gene

GRHPR - glyoxylate and hydroxypyruvate reductase Gene

中文名称:乙醛酸和羟基丙酮酸还原酶

种属: Homo sapiens

同用名: PH2; GLXR; GLYD

基因 ID: 9380 | 基因类型: protein coding

关于 GRHPR

Cytogenetic location: 9p13.2 Genomic coordinates (GRCh38): 9:37,422,435-37,439,494 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 132.9), kidney (RPKM 67.4) and 24 other tissues.

功能概要

该基因编码一种具有羟基丙酮酸还原酶、乙醛酸还原酶和 D-甘油酸脱氢酶酶促活性的酶。该酶具有广泛的组织表达并在新陈代谢中起作用。 II 型高草酸尿症是由该基因突变引起的。[RefSeq 提供,2008 年 7 月]

This gene encodes an Enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The Enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]

GRHPR 基因产物(1)

mRNA Protein Name
NM_012203.2 NP_036335.1 glyoxylate reductase/hydroxypyruvate reductase
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables NADPH binding IDA
IDA: 通过直接分析推断
16756993 GOA
enables glyoxylate reductase (NADPH) activity IDA
IDA: 通过直接分析推断
10484776 GOA
enables hydroxypyruvate reductase (NADH) activity IDA
IDA: 通过直接分析推断
10484776 GOA
enables hydroxypyruvate reductase [NAD(P)H] activity IDA
IDA: 通过直接分析推断
10484776 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23599041 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16756993 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glyoxylate metabolic process IDA
IDA: 通过直接分析推断
10484776 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of catalytic complex IDA
IDA: 通过直接分析推断
16756993 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

GRHPR 蛋白结构

2-Hacid_dh

2-Hacid_dh: D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (9 - 326)

2-Hacid_dh_C

2-Hacid_dh_C: D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain (116 - 295)

  • 0
  • 100
  • 200
  • 300
  • 328 a.a.
蛋白主名 其他名称

glyoxylate reductase/hydroxypyruvate reductase

epididymis secretory sperm binding protein

GRHPR 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
GRHPR Q9UBQ7 SLC23A1 Homo sapiens Q9UHI7 23599041
种属内
GRHPR Q9UBQ7 SLC23A1 Homo sapiens Q9UHI7 23599041
种属内
GRHPR Q9UBQ7 SLC23A1 Homo sapiens Q9UHI7 23599041
种属内
GRHPR Q9UBQ7 SLC23A1 Homo sapiens Q9UHI7 23599041
种属内
GRHPR Q9UBQ7 SLC23A1 Homo sapiens Q9UHI7
Y2H
23599041
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 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

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

Nephrocalcinosis

Hypercalcemic Nephropathy

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Nephrolithiasis, Calcium Oxalate

Kidney Stones

Calculus Of Kidney

Kidney Calculi

Nephrolithiasis

Renal Calculi

Calcium Oxalate Urolithiasis

CAON

Urolithiasis, Calcium Oxalate

Calcium Oxalate Nephrolithiasis

Kidney Stone

Nephrolith

Renal Calculus

Urinary Stones

Renal Stone

Calculus, Kidney

Calculus, Renal

Renal Lithiasis

Renal Stones

Urolithiasis

Renal Calculus Or Stone

Stone In Kidney

Nephritic Calculus

Multiple Kidney Calculi

Multiple Kidney Calculus

Nephrolithiasis Nos

Pelvic Nephrolithiasis

Pelviolithiasis

Pelvis Nephrolithiasis

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

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To

Uric Acid Urolithiasis

Uric Acid Nephrolithiasis

UAN

Acute Urate Nephropathy

Urolithiasis, Uric Acid

Urolithiasis, Uric Acid, Susceptibility To

Uric Acid Renal Calculus

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

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

D-Glyceric Aciduria

D-Glyceric Acidemia

D-Glycericacidemia

Glycerate Kinase Deficiency

D-Glycerate Kinase Deficiency

Non Ketotic Hyperglycinemia Syndrome

Deficiency Of Glycerate Kinase

Hyperglycinemia, Non-Ketotic

D-GA

Urethral Calculus

Calculus In Urethra

Urethral Stone

Urethrolithiasis

Urethra Calculi Impaction

Urethra Calculus Impaction

Urethra Stone

Calculous Urethritis

Urethral Calculi Impaction

Urethral Calculus Impaction

Ureterolithiasis

Calculus Of Ureter

Ureteric Stone

Ureteral Calculi

Ureteric Calculus

Stone In The Ureter

Ureter Calculi

Ureteral Calculus Or Stone

Ureterolith

Ureterolithiasis Nos

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

Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GRHPR RGD RGD:1308851
Canis familiaris GRHPR VGNC VGNC:41479
Bos taurus GRHPR VGNC VGNC:29637
Mus musculus GRHPR MGD MGI:1923488
Felis catus GRHPR VGNC VGNC:67460
Macaca mulatta GRHPR VGNC VGNC:103270
Others GRHPR NCBI