GNPAT - glyceronephosphate O-acyltransferase Gene

Also Known as DAPAT; RCDP2; DAP-AT; DHAPAT

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8443

About GNPAT

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:231,241,212-231,277,973 (from NCBI)

This gene has 6 transcripts (splice variants), 281 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 20.9), heart (RPKM 16.9) and 25 other tissues.

Summary

This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether Phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GNPAT Products (2)

mRNA	Protein	Name
NM_001316350.2	NP_001303279.1	dihydroxyacetone phosphate acyltransferase isoform 2
NM_014236.4	NP_055051.1	dihydroxyacetone phosphate acyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables glycerone-phosphate O-acyltransferase activity	IDA IDA: Inferred from direct assay	8186247	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in ether lipid biosynthetic process	IDA IDA: Inferred from direct assay	15687349	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in peroxisome	IDA IDA: Inferred from direct assay	15687349	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

GNPAT Protein Structure

Acyltransferase

0
200
400
600
680 a.a.

Protein Preferred Names	Protein Names
dihydroxyacetone phosphate acyltransferase	DHAP-AT

関連疾患

Diseases	Alias
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
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
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
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Chondrodysplasia Punctata 2, X-Linked Dominant	CDPX2 Happle Syndrome Chondrodysplasia Punctata, X-Linked Dominant Cdpxd Cpxd Conradi-Hunermann Syndrome Conradi-Hunermann-Happle Syndrome Chondrodysplasia Punctata 2 X-Linked Dominant X-Linked Dominant Chondrodysplasia Punctata 2 Conrad Hunermann Happle Syndrome Conradi Hunermann Syndrome Chh Chondrodysplasia Punctata, Type 2, X-Linked Dominant Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata
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, Type 5	Rhizomelic Chondrodysplasia Punctata Type 5 RCDP5 Rhizomelic Chondrodysplasia Punctata 5 Chondrodysplasia Punctata, Rhizomelic, Type 5
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
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-B1465	1-Hexadecanol		99.76%	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05570	GNPAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	GNPAT	RGD	RGD:620179
Bos taurus	GNPAT	VGNC	VGNC:58355
Mus musculus	GNPAT	MGD	MGI:1343460
Macaca mulatta	GNPAT	VGNC	VGNC:73100
Felis catus	GNPAT	VGNC	VGNC:62629
Canis familiaris	GNPAT	VGNC	VGNC:41330
Others	GNPAT	NCBI