GNPAT - glyceronephosphate O-acyltransferase Gene

Homo sapiens

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

Gene ID: 8443 | Gene type: protein coding

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	Reference	Source
enables glycerone-phosphate O-acyltransferase activity	IDA IDA: Inferred from direct assay	8186247	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ether lipid biosynthetic process	IDA IDA: Inferred from direct assay	15687349	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1465	1-Hexadecanol		99.76%	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05570	GNPAT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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