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  2. HAAO - 3-hydroxyanthranilate 3,4-dioxygenase Gene

HAAO - 3-hydroxyanthranilate 3,4-dioxygenase Gene

中文名称:3-羟基邻氨基苯甲酸 3,4-双加氧酶

种属: Homo sapiens

同用名: HAO; 3-HAO; VCRL1; h3HAO

基因 ID: 23498 | 基因类型: protein coding

关于 HAAO

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:42,767,089-42,792,583 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Biased expression in liver (RPKM 28.1), kidney (RPKM 12.5) and 13 other tissues.

功能概要

3-羟基邻氨基苯甲酸 3,4-双加氧酶是一种单体胞质蛋白,属于含有非血红素亚铁的分子内双加氧酶家族。广泛分布于肝、肾等外周器官,在中枢神经系统中也有少量存在。 HAAO 催化从 3-羟基邻氨基苯甲酸合成喹啉酸 (QUIN) 。 QUIN 是一种兴奋性毒素,其毒性由其激活谷氨酸 N-甲基-D-天冬氨酸受体的能力介导。 QUIN 大脑水平升高可能参与神经系统和炎症性疾病的发病机制。 HAAO 已被建议在与 QUIN 组织水平改变相关的疾病中发挥作用。[RefSeq 提供,2008 年 7 月]

3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]

HAAO 基因产物(1)

mRNA Protein Name
NM_012205.3 NP_036337.2 3-hydroxyanthranilate 3,4-dioxygenase
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 3-hydroxyanthranilate 3,4-dioxygenase activity IDA
IDA: 通过直接分析推断
7514594 GOA
enables ferrous iron binding IDA
IDA: 通过直接分析推断
12007609 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in NAD biosynthetic process IMP
IMP: 通过突变表型推断
28792876 GOA
involved in neuron cellular homeostasis IMP
IMP: 通过突变表型推断
2967497 GOA
involved in quinolinate biosynthetic process IDA
IDA: 通过直接分析推断
28792876 GOA
involved in response to cadmium ion IDA
IDA: 通过直接分析推断
12007609 GOA
involved in response to zinc ion IDA
IDA: 通过直接分析推断
12007609 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
7514594 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

HAAO 蛋白结构

3-HAO

3-HAO: 3-hydroxyanthranilic acid dioxygenase (3 - 149)

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

3-hydroxyanthranilate 3,4-dioxygenase

3-hydroxyanthranilate oxygenase

重组 HAAO 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76962 HAAO Protein, Human (sf9, His-GST) P46952 (M1-G286) ≥95%

关联疾病

疾病名称 别名
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1

VCRL1

Congenital Nad Deficiency Disorder 1

3-Hydroxyanthranilic Acidemia

Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Congenital Nad Deficiency Disorder

Hydroxykynureninuria

Xanthurenic Aciduria

Kynureninase Deficiency

Kynureninase Deficiency, Partial

HYXKY

Partial Kynureninase Deficiency

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Felis catus HAAO VGNC VGNC:67530
Rattus norvegicus HAAO RGD RGD:71071
Mus musculus HAAO MGD MGI:1349444
Bos taurus HAAO VGNC VGNC:29735
Macaca mulatta HAAO VGNC VGNC:106169
Canis familiaris HAAO VGNC VGNC:41580
Others HAAO NCBI