1. Gene
  2. AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Gene

AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Gene

中文名称:氨基己二酸-半醛脱氢酶-磷酸泛酰乙胺基转移酶

种属: Homo sapiens

同用名: ACPS; LYS2; LYS5; CGI-80; AASD-PPT

基因 ID: 60496 | 基因类型: protein coding

关于 AASDHPPT

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:106,077,662-106,098,695 (from NCBI)

This gene has 5 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues.

功能概要

该基因编码的蛋白质类似于酿酒酵母 LYS5,后者是赖氨酸生物合成途径中激活α-氨基己二酸脱氢酶所必需的。酵母α-氨基己二酸脱氢酶将α-生物合成氨基己二酸半醛转化为α-氨基己二酸。有人提出,人类基因的缺陷会导致哌啶酸血症。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]

AASDHPPT 基因产物(1)

mRNA Protein Name
NM_015423.3 NP_056238.2 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
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 holo-[acyl-carrier-protein] synthase activity IDA
IDA: 通过直接分析推断
12815048 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
18022563 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
acts upstream of positive effect 10-formyltetrahydrofolate catabolic process IMP
IMP: 通过突变表型推断
19933275 GOA
involved in protein maturation IDA
IDA: 通过直接分析推断
19933275 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
12815048 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

AASDHPPT 蛋白结构

ACPS

ACPS: 4'-phosphopantetheinyl transferase superfamily (125 - 244)

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

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

4'-phosphopantetheinyl transferase

AASDHPPT 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
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Y2H Array
32296183
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Y2H Prey Pooling
32296183
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Anti Tag CoIP
28514442
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Validated Y2H
32296183
Intra AASDHPPT Q9NRN7 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
Intra AASDHPPT Q9NRN7 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
Intra AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Intra AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9
Anti Tag CoIP
33961781
Intra AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9
Y2H Prey Pooling
25416956
Intra AASDHPPT Q9NRN7 SIAH1 Homo sapiens Q8IUQ4
Y2H Array
25416956
Intra AASDHPPT Q9NRN7 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra AASDHPPT Q9NRN7 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
Intra AASDHPPT Q9NRN7 CRX Homo sapiens O43186
Y2H Array
32296183
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
Pipecolic Acidemia
Lissencephaly 5

LIS5

Cobblestone Lissencephaly Without Muscular Or Ocular Involvement

Cobblestone Lissencephaly Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Ocular Involvement

Lissencephaly, Type 5

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 AASDHPPT MGD MGI:1914868
Canis familiaris AASDHPPT VGNC VGNC:37418
Felis catus AASDHPPT VGNC VGNC:59457
Rattus norvegicus AASDHPPT RGD RGD:1311360
Macaca mulatta AASDHPPT VGNC VGNC:69394