PAICS - phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Gene
Also Known as ADE2; AIRC; PAIS; ADE2H1; PAICSD
Species: Homo sapiens
About PAICS
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.
Summary
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 Products (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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16169070 | GOA |
| enables phosphoribosylaminoimidazole carboxylase activity |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| enables phosphoribosylaminoimidazole carboxylase activity |
IMP
IMP: Inferred from mutant phenotype
|
31600779 | GOA |
| enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| enables phosphoribosylaminoimidazolesuccinocarboxamide synthase activity |
IMP
IMP: Inferred from mutant phenotype
|
31600779 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in 'de novo' AMP biosynthetic process |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| involved in 'de novo' IMP biosynthetic process |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| involved in 'de novo' XMP biosynthetic process |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| involved in GMP biosynthetic process |
IDA
IDA: Inferred from direct assay
|
27590927 | GOA |
| involved in purine nucleobase biosynthetic process |
IDA
IDA: Inferred from direct assay
|
31600779 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
25468996 | GOA |
PAICS Protein Structure
SAICAR_synt: SAICAR synthetase (11 - 251)
AIRC: AIR carboxylase (267 - 405)
- 0
- 100
- 200
- 300
- 400
- 425 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase multifunctional protein ADE2 |
|
|
PAICS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PAICS | P22234 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
PAICS | P22234 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
PAICS | P22234 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
PAICS | P22234 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
PAICS | P22234 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
PAICS | P22234 | RNF4 | Homo sapiens | P78317 | 32296183 | |
|
Intra
|
PAICS | P22234 | ZMYM2 | Homo sapiens | Q9UBW7 | 32296183 | |
|
Intra
|
PAICS | P22234 | ZMYM2 | Homo sapiens | Q9UBW7 | 32296183 | |
|
Intra
|
PAICS | P22234 | ZMYM2 | Homo sapiens | Q9UBW7 | 32296183 | |
|
Intra
|
PAICS | P22234 | CDC37 | Homo sapiens | Q16543 | 32296183 | |
|
Intra
|
PAICS | P22234 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
PAICS | P22234 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 21988832 | |
|
Intra
|
PAICS | P22234 | L3MBTL2 | Homo sapiens | Q969R5 | 25416956 | |
|
Intra
|
PAICS | P22234 | FXR2 | Homo sapiens | P51116 | 21653829 | |
|
Intra
|
PAICS | P22234 | LNX1 | Homo sapiens | Q8TBB1 | 32296183 | |
|
Intra
|
PAICS | P22234 | NUDT18 | Homo sapiens | Q6ZVK8 | 19060904 | |
|
Intra
|
PAICS | P22234 | L3MBTL2 | Homo sapiens | Q969R5 | 25416956 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 32296183 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 25416956 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 32296183 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 16169070 | |
|
Intra
|
PAICS | P22234 | LNX1 | Homo sapiens | Q8TBB1 | 16189514 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 32296183 | |
|
Intra
|
PAICS | P22234 | NUDT18 | Homo sapiens | Q6ZVK8 | 16189514 | |
|
Intra
|
PAICS | P22234 | PAICS | Homo sapiens | P22234 | 16189514 | |
|
Intra
|
PAICS | P22234 | NUDT18 | Homo sapiens | Q6ZVK8 | 19060904 | |
|
Intra
|
PAICS | P22234 | RAD54L2 | Homo sapiens | Q9Y4B4 | 32296183 | |
|
Intra
|
PAICS | P22234 | RAD54L2 | Homo sapiens | Q9Y4B4 | 32296183 | |
|
Intra
|
PAICS | P22234 | RAD54L2 | Homo sapiens | Q9Y4B4 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
|
| Spinocerebellar Ataxia, X-Linked 3 |
|
|
| Spinocerebellar Ataxia, X-Linked 4 |
|
|
Orthologs Information
| Species | Symbol | Source | 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 |
| Others | PAICS | NCBI |