1. Gene
  2. PAICS - phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Gene

PAICS - phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Gene

中文名称:磷酸核糖氨基咪唑羧化酶和磷酸核糖氨基咪唑琥珀酰甲酰胺合酶

种属: Homo sapiens

同用名: ADE2; AIRC; PAIS; ADE2H1; PAICSD

基因 ID: 10606 | 基因类型: protein coding

关于 PAICS

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,410,507-56,464,578 (from NCBI)

This gene has 8 transcripts (splice variants), 248 orthologues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 25.9), appendix (RPKM 25.5) and 25 other tissues.

功能概要

该基因编码一种双功能酶,其 N 末端区域含有磷酸核糖氨基咪唑羧化酶活性,C 末端区域含有磷酸核糖氨基咪唑琥珀酰甲酰胺合成酶。它催化嘌呤生物合成的第 6 步和第 7 步。该基因与在同一途径中编码酶的基因座紧密连锁和发散转录,并且这两个基因的转录受到协调调节。人类基因组包含该基因的几个假基因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a bifunctional Enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an Enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PAICS 基因产物(6)

mRNA Protein Name
NM_001079524.2 NP_001072992.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2
NM_001079525.2 NP_001072993.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1
NM_001392010.1 NP_001378939.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 3
NM_001392011.1 NP_001378940.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 4
NM_001392012.1 NP_001378941.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 5
NM_006452.4 NP_006443.1 bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
16169070 GOA
enables phosphoribosylaminoimidazole carboxylase activity IDA
IDA: 通过直接分析推断
27590927 GOA
enables phosphoribosylaminoimidazole carboxylase activity IMP
IMP: 通过突变表型推断
31600779 GOA
enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity IDA
IDA: 通过直接分析推断
27590927 GOA
enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity IMP
IMP: 通过突变表型推断
31600779 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 'de novo' AMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in 'de novo' IMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in 'de novo' XMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in GMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in purine nucleobase biosynthetic process IDA
IDA: 通过直接分析推断
31600779 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25468996 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

PAICS 蛋白结构

SAICAR_synt

SAICAR_synt: SAICAR synthetase (11 - 251)

AIRC

AIRC: AIR carboxylase (267 - 405)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
蛋白主名 其他名称

bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase

multifunctional protein ADE2

AIR carboxylase

PAICS 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
PAICS P22234 UBE2I Homo sapiens Q7KZS0
Validated Y2H
32296183
种属内
PAICS P22234 UBE2I Homo sapiens Q7KZS0
Y2H Prey Pooling
32296183
种属内
PAICS P22234 UBE2I Homo sapiens Q7KZS0
Y2H Array
32296183
种属内
PAICS P22234 RNF4 Homo sapiens P78317
Y2H Prey Pooling
32296183
种属内
PAICS P22234 RNF4 Homo sapiens P78317
Y2H Array
32296183
种属内
PAICS P22234 RNF4 Homo sapiens P78317
Validated Y2H
32296183
种属内
PAICS P22234 ZMYM2 Homo sapiens Q9UBW7
Y2H Prey Pooling
32296183
种属内
PAICS P22234 ZMYM2 Homo sapiens Q9UBW7
Validated Y2H
32296183
种属内
PAICS P22234 ZMYM2 Homo sapiens Q9UBW7
Y2H Array
32296183
种属内
PAICS P22234 CDC37 Homo sapiens Q16543
Validated Y2H
32296183
种属内
PAICS P22234 PIAS2 Homo sapiens O75928-2
Y2H Prey Pooling
32296183
种属内
PAICS P22234 PIAS2 Homo sapiens O75928-2
Y2H Array
32296183
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H
21988832
种属内
PAICS P22234 L3MBTL2 Homo sapiens Q969R5
Y2H Prey Pooling
25416956
种属内
PAICS P22234 FXR2 Homo sapiens P51116
Y2H Pooling
21653829
种属内
PAICS P22234 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
种属内
PAICS P22234 NUDT18 Homo sapiens Q6ZVK8
Y2H Pooling
19060904
种属内
PAICS P22234 L3MBTL2 Homo sapiens Q969R5
Y2H Array
25416956
种属内
PAICS P22234 PAICS Homo sapiens P22234
Validated Y2H
32296183
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H Array
25416956
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H Prey Pooling
32296183
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H Pooling
16169070
种属内
PAICS P22234 LNX1 Homo sapiens Q8TBB1
Y2H Pooling
16189514
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H Array
32296183
种属内
PAICS P22234 NUDT18 Homo sapiens Q6ZVK8
Y2H Pooling
16189514
种属内
PAICS P22234 PAICS Homo sapiens P22234
Y2H Pooling
16189514
种属内
PAICS P22234 NUDT18 Homo sapiens Q6ZVK8
Y2H Array
19060904
种属内
PAICS P22234 RAD54L2 Homo sapiens Q9Y4B4
Validated Y2H
32296183
种属内
PAICS P22234 RAD54L2 Homo sapiens Q9Y4B4
Y2H Prey Pooling
32296183
种属内
PAICS P22234 RAD54L2 Homo sapiens Q9Y4B4
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
Phosphoribosylaminoimidazole Carboxylase Deficiency

PAICSD

Spinocerebellar Ataxia, X-Linked 3

Scax3

X-Linked Spinocerebellar Ataxia 3

X-Linked Ataxia-Deafness Syndrome

X-Linked Spinocerebellar Ataxia Type 3

Ataxia-Deafness Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 3

Ataxia-Deafness Syndrome X-Linked

X-Linked Ataxia-Hearing Loss Syndrome

Spinocerebellar Ataxia, X-Linked, 3

Spinocerebellar Ataxia, X-Linked 4

Scax4

X-Linked Spinocerebellar Ataxia 4

X-Linked Ataxia-Dementia Syndrome

X-Linked Spinocerebellar Ataxia Type 4

Ataxia-Dementia Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 4

Ataxia-Dementia Syndrome X-Linked

Spinocerebellar Ataxia, X-Linked, 4

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 PAICS VGNC VGNC:107383
Mus musculus PAICS MGD MGI:1914304
Canis familiaris PAICS VGNC VGNC:44243
Rattus norvegicus PAICS RGD RGD:620066
Macaca mulatta PAICS VGNC VGNC:100259