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

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

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		/	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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