AGPS - alkylglycerone phosphate synthase Gene

Also Known as ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8540

About AGPS

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:177,392,773-177,543,834 (from NCBI)

This gene has 25 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 7.8), endometrium (RPKM 6.7) and 25 other tissues.

Summary

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

AGPS Products (1)

mRNA	Protein	Name
NM_003659.4	NP_003650.1	alkyldihydroxyacetonephosphate synthase, peroxisomal precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables alkylglycerone-phosphate synthase activity	IDA IDA: Inferred from direct assay	8399344	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
acts upstream of or within lipid biosynthetic process	IDA IDA: Inferred from direct assay	9553082	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in peroxisome	IDA IDA: Inferred from direct assay	9553082	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

AGPS Protein Structure

FAD_binding_4

FAD-oxidase_C

0
200
400
600
658 a.a.

Protein Preferred Names	Protein Names
alkyldihydroxyacetonephosphate synthase, peroxisomal	aging-associated gene 5 protein

AGPS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Validated Y2H	32296183
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Y2H Array	31515488
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Y2H Prey Pooling	32296183
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Y2H Array	25416956
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Y2H Array	32296183
Intra	AGPS	O00116	GORASP1	Homo sapiens	Q9BQQ3	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

AGPS Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P82308	AGPS Antibody (YA2053)	WB, IHC-P, IP	Human
HY-P82308A	AGPS Antibody (YA2053)(PBS only)	WB, IHC-P, IP	Human

Related Diseases

Diseases	Alias
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelic Chondrodysplasia Punctata Type 3 RCDP3 Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Agps Deficiency Rhizomelic Chondrodysplasia Punctata 3 Chondrodysplasia Punctata, Rhizomelic, Type 3
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelic Chondrodysplasia Punctata Type 2 Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 Dhapat Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Type 2 Rhizomelic Chondrodysplasia Punctata 2
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Rhizomelic Chondrodysplasia Punctata, Type 5	Rhizomelic Chondrodysplasia Punctata Type 5 RCDP5 Rhizomelic Chondrodysplasia Punctata 5 Chondrodysplasia Punctata, Rhizomelic, Type 5
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
Retinal Dystrophy With Leukodystrophy	RDLKD Acbd5 Deficiency Dystrophy, Retinal, With Leukodystrophy
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities

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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-B1465	1-Hexadecanol		99.76%	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-153910	AGPS-IN-1		99.74%	Unkown
HY-RS00461	AGPS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22098	Agps Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AGPS	VGNC	VGNC:59689
Bos taurus	AGPS	VGNC	VGNC:25739
Mus musculus	AGPS	MGD	MGI:2443065
Canis familiaris	AGPS	VGNC	VGNC:37714
Macaca mulatta	AGPS	VGNC	VGNC:69747
Rattus norvegicus	AGPS	RGD	RGD:620364
Others	AGPS	NCBI