AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Gene

Homo sapiens

Also known as ACPS; LYS2; LYS5; CGI-80; AASD-PPT

Gene ID: 60496 | Gene type: protein coding

About AASDHPPT

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:106,077,662-106,098,695 (from NCBI)

This gene has 5 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues.

Summary

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]

AASDHPPT Products(1)

mRNA	Protein	Name
NM_015423.3	NP_056238.2	L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables holo-[acyl-carrier-protein] synthase activity	IDA IDA: Inferred from direct assay	12815048	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	18022563	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of positive effect 10-formyltetrahydrofolate catabolic process	IMP IMP: Inferred from mutant phenotype	19933275	GOA
involved in protein maturation	IDA IDA: Inferred from direct assay	19933275	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	12815048	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

AASDHPPT Protein Structure

ACPS

0
100
200
309 a.a.

Protein Preferred Names

Protein Names

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

4'-phosphopantetheinyl transferase

AASDHPPT Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9-2	Y2H Array	32296183
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9-2	Y2H Prey Pooling	32296183
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9-2	Anti Tag CoIP	28514442
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9-2	Validated Y2H	32296183
Intra	AASDHPPT	Q9NRN7	EFHC2	Homo sapiens	Q5JST6	Y2H Array	32296183
Intra	AASDHPPT	Q9NRN7	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	32296183
Intra	AASDHPPT	Q9NRN7	TRAF2	Homo sapiens	Q12933	Y2H Array	25416956
Intra	AASDHPPT	Q9NRN7	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	AASDHPPT	Q9NRN7	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	25416956
Intra	AASDHPPT	Q9NRN7	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9	Anti Tag CoIP	33961781
Intra	AASDHPPT	Q9NRN7	USP22	Homo sapiens	Q9UPT9	Y2H Prey Pooling	25416956
Intra	AASDHPPT	Q9NRN7	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	25416956
Intra	AASDHPPT	Q9NRN7	SIAH1	Homo sapiens	Q8IUQ4	Y2H Prey Pooling	25416956
Intra	AASDHPPT	Q9NRN7	CRX	Homo sapiens	O43186	Y2H Prey Pooling	32296183
Intra	AASDHPPT	Q9NRN7	CRX	Homo sapiens	O43186	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Pipecolic Acidemia

Lissencephaly 5

LIS5	Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cobblestone Lissencephaly Without Muscular Or Eye Involvement	Lissencephaly Type 2 Without Muscular Or Eye Involvement
Lissencephaly Type 2 Without Muscular Or Ocular Involvement	Lissencephaly, Type 5

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-RS00032	AASDHPPT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AASDHPPT	MGD	MGI:1914868
Canis familiaris	AASDHPPT	VGNC	VGNC:37418
Felis catus	AASDHPPT	VGNC	VGNC:59457
Rattus norvegicus	AASDHPPT	RGD	RGD:1311360
Macaca mulatta	AASDHPPT	VGNC	VGNC:69394

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