PAICS - phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Gene

Homo sapiens

Also known as ADE2; AIRC; PAIS; ADE2H1; PAICSD

Gene ID: 10606 | Gene type: protein coding

About 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.

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25468996	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAICS Protein Structure

SAICAR_synt

AIRC

0
100
200
300
400
425 a.a.

Protein Preferred Names

Protein Names

bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase

multifunctional protein ADE2

AIR carboxylase

PAICS Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PAICS	P22234	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	PAICS	P22234	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	PAICS	P22234	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	PAICS	P22234	RNF4	Homo sapiens	P78317	Validated Y2H	32296183
Intra	PAICS	P22234	ZMYM2	Homo sapiens	Q9UBW7	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	ZMYM2	Homo sapiens	Q9UBW7	Validated Y2H	32296183
Intra	PAICS	P22234	ZMYM2	Homo sapiens	Q9UBW7	Y2H Array	32296183
Intra	PAICS	P22234	CDC37	Homo sapiens	Q16543	Validated Y2H	32296183
Intra	PAICS	P22234	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H	21988832
Intra	PAICS	P22234	L3MBTL2	Homo sapiens	Q969R5	Y2H Prey Pooling	25416956
Intra	PAICS	P22234	FXR2	Homo sapiens	P51116	Y2H Pooling	21653829
Intra	PAICS	P22234	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	PAICS	P22234	NUDT18	Homo sapiens	Q6ZVK8	Y2H Pooling	19060904
Intra	PAICS	P22234	L3MBTL2	Homo sapiens	Q969R5	Y2H Array	25416956
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Validated Y2H	32296183
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H Array	25416956
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H Pooling	16169070
Intra	PAICS	P22234	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	16189514
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H Array	32296183
Intra	PAICS	P22234	NUDT18	Homo sapiens	Q6ZVK8	Y2H Pooling	16189514
Intra	PAICS	P22234	PAICS	Homo sapiens	P22234	Y2H Pooling	16189514
Intra	PAICS	P22234	NUDT18	Homo sapiens	Q6ZVK8	Y2H Array	19060904
Intra	PAICS	P22234	RAD54L2	Homo sapiens	Q9Y4B4	Validated Y2H	32296183
Intra	PAICS	P22234	RAD54L2	Homo sapiens	Q9Y4B4	Y2H Prey Pooling	32296183
Intra	PAICS	P22234	RAD54L2	Homo sapiens	Q9Y4B4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09980	PAICS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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