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  2. HPD - 4-hydroxyphenylpyruvate dioxygenase Gene

HPD - 4-hydroxyphenylpyruvate dioxygenase Gene

中文名称:4-羟基苯丙酮酸双加氧酶

种属: Homo sapiens

同用名: PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE

基因 ID: 3242 | 基因类型: protein coding

关于 HPD

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,839,527-121,888,611 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 6 phenotypes. Biased expression in liver (RPKM 441.7) and kidney (RPKM 174.9).

功能概要

该基因编码的蛋白质是酪氨酸分解代谢途径中的一种酶。编码的蛋白质催化 4-羟基苯丙酮酸转化为尿黑酸。该基因的缺陷是 3 型酪氨酸血症 (TYRO3) 和霍金尿症 (HAWK) 的原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2010 年 1 月]

The protein encoded by this gene is an Enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

HPD 基因产物(2)

mRNA Protein Name
NM_001171993.2 NP_001165464.1 4-hydroxyphenylpyruvate dioxygenase isoform 2
NM_002150.3 NP_002141.2 4-hydroxyphenylpyruvate dioxygenase 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 4-hydroxyphenylpyruvate dioxygenase activity IDA
IDA: 通过直接分析推断
1339442 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
1339442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within tyrosine catabolic process IDA
IDA: 通过直接分析推断
31537781 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

HPD 蛋白结构

Glyoxalase

Glyoxalase: Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily (19 - 122)

Glyoxalase

Glyoxalase: Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily (181 - 335)

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

4-hydroxyphenylpyruvate dioxygenase

4-hydroxyphenylpyruvic acid oxidase

重组 HPD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70024 HPD/HPPDase Protein, Human (His) P32754-1 (M1-M393) ≥95%

关联疾病

疾病名称 别名
Tyrosinemia, Type Iii

Tyrosinemia Type Iii

4-Hydroxyphenylpyruvate Dioxygenase Deficiency

TYRSN3

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Type 3

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To Hpd Deficiency

Tyrosinemia 3

Hawkinsinuria

4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency

4-Hppd Deficiency

4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency

HWKS

HAWK

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Alkaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonuria

AKU

Deficiency Of Homogentisicase

Homogentisate 1,2-Dioxygenase Deficiency

Alkaptonuric Ochronosis

Homogentisic Acidura

Ochronosis, Hereditary

Hereditary Ochronosis

Ochronosis

Homogentisicaciduria

Deficiency Of Homogentisate Oxygenase

Ochronosis
Spasticity
External Ear Carcinoma

Carcinoma Of External Ear

Carcinoma Of The External Ear

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Achilles Bursitis

Achilles Bursitis Or Tendinitis

Capped Hock

Haglund'S Deformity

Haglund'S Disease

Osteochondritis Of The Talus

Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Tyrosinemia, Type Ii

Tyrosinemia Type Ii

Oculocutaneous Tyrosinemia

Richner-Hanhart Syndrome

Tyrosine Aminotransferase Deficiency

Tat Deficiency

Tyrosine Transaminase Deficiency

Keratosis Palmoplantaris With Corneal Dystrophy

TYRSN2

Oregon Type Tyrosinemia

Tyrosinemia Type 2

Tyrosinosis Oculocutaneous Type

Tyrosinosis, Oculocutaneous Type

Richner Hanhart Syndrome

Keratosis Palmoplantaris-Corneal Dystrophy Syndrome

Tyrosinemia Due To Tat Deficiency

Tyrosinemia Due To Tyrosine Aminotransferase Deficiency

Tyrosinemia 2

Tyrosinemia Oregon Type

Tyrosine Transaminase Deficiency Disease

Postmenopausal Atrophic Vaginitis

Atrophic Vaginitis

Senile Vaginitis

Senile Atrophic Vaginitis

Atrophy Of Vagina

Vaginal Atrophy

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

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 HPD RGD RGD:61974
Macaca mulatta HPD VGNC VGNC:73511
Felis catus HPD VGNC VGNC:67637
Bos taurus HPD VGNC VGNC:29939
Mus musculus HPD MGD MGI:96213
Canis familiaris HPD VGNC VGNC:41770
Macaca fascicularis HPD NCBI NCBI:102132519
Others HPD NCBI