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

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

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