1. Gene
  2. ACMSD - aminocarboxymuconate semialdehyde decarboxylase Gene

ACMSD - aminocarboxymuconate semialdehyde decarboxylase Gene

中文名称:氨基羧基粘康酸半醛脱羧酶

种属: Homo sapiens

基因 ID: 130013 | 基因类型: protein coding

关于 ACMSD

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:134,838,616-134,902,034 (from NCBI)

This gene has 4 transcripts (splice variants) and 199 orthologues. Biased expression in kidney (RPKM 17.3), liver (RPKM 10.7) and 1 other tissue.

功能概要

神经元兴奋毒素喹啉酸盐是色氨酸从头合成 NAD 途径中的中间体,与多种神经退行性疾病的发病机制有关。喹啉酸盐衍生自 α-氨基-β-羧基-粘康酸盐-ε-半醛 (ACMS) 。 ACMSD (ACMS 脱羧酶;EC 4.1.1.45) 可以将 ACMS 转化为良性分解代谢物,从而防止 ACMS 中喹啉酸盐的积累。[OMIM 提供,2004 年 10 月]

The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]

ACMSD 基因产物(2)

mRNA Protein Name
NM_001307983.2 NP_001294912.1 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2
NM_138326.3 NP_612199.2 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 1
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
NOT enables aminocarboxymuconate-semialdehyde decarboxylase activity IDA
IDA: 通过直接分析推断
17288562 GOA
enables aminocarboxymuconate-semialdehyde decarboxylase activity IDA
IDA: 通过直接分析推断
12140278 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
19843166 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of quinolinate biosynthetic process IDA
IDA: 通过直接分析推断
12140278 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
12140278 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

ACMSD 蛋白结构

Amidohydro_2

Amidohydro_2: Amidohydrolase (3 - 330)

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

2-amino-3-carboxymuconate-6-semialdehyde decarboxylase

picolinate carboxylase

ACMSD 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
ACMSD Q8TDX5 MAGEA11 Homo sapiens P43364-2 25416956
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
Pellagra

Niacin Deficiency

Niacin-Tryptophan Deficiency

Pellagroid Syndrome

Hydroxykynureninuria

Xanthurenic Aciduria

Kynureninase Deficiency

Kynureninase Deficiency, Partial

HYXKY

Partial Kynureninase Deficiency

Epilepsy, Familial Adult Myoclonic, 2

FAME2

Benign Adult Familial Myoclonic Epilepsy 2

Bafme2

Fcmte2

Adcme

Cortical Myoclonic Tremor With Epilepsy, Familial, 2

Cortical Myoclonus And Epilepsy, Autosomal Dominant

Familial Adult Myoclonic Epilepsy 2

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Autosomal Dominant Cortical Myoclonus And Epilepsy

Familial Cortical Myoclonic Tremor And Epilepsy 2

Epilepsy, Myoclonic, Familial Adult, Type 2

Epilepsy, Familial Adult Myoclonic, 5

FAME5

Fcmte5

Cortical Myoclonic Tremor With Epilepsy, Familial, 5

Familial Adult Myoclonic Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, 5

Familial Cortical Myoclonic Tremor And Epilepsy 5

Familial Cortical Myoclonic Tremor With Epilepsy 5

Epilepsy, Myoclonic, Familial Adult, Type 5

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson 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
Mus musculus ACMSD MGD MGI:2386323
Bos taurus ACMSD VGNC VGNC:25544
Canis familiaris ACMSD VGNC VGNC:37512
Felis catus ACMSD VGNC VGNC:59514
Rattus norvegicus ACMSD RGD RGD:620868
Macaca mulatta ACMSD VGNC VGNC:69476