PEX1 - peroxisomal biogenesis factor 1 Gene

Homo sapiens

Also known as ZWS; ZWS1; HMLR1; PBD1A; PBD1B

Gene ID: 5189 | Gene type: protein coding

About PEX1

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:92,487,025-92,528,520 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues, 5 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 8.3), kidney (RPKM 7.5) and 25 other tissues.

Summary

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

PEX1 Products(3)

mRNA	Protein	Name
NM_000466.3	NP_000457.1	peroxisome biogenesis factor 1 isoform 1
NM_001282677.2	NP_001269606.1	peroxisome biogenesis factor 1 isoform 2
NM_001282678.2	NP_001269607.1	peroxisome biogenesis factor 1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IMP IMP: Inferred from mutant phenotype	16854980	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	16854980	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9588209	GOA
enables protein transporter activity	IDA IDA: Inferred from direct assay	16854980	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	16854980	GOA
enables ubiquitin-modified protein reader activity	IDA IDA: Inferred from direct assay	19208625	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within microtubule-based peroxisome localization	IMP IMP: Inferred from mutant phenotype	16449325	GOA
involved in microtubule-based peroxisome localization	IMP IMP: Inferred from mutant phenotype	16449325	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	11439091	GOA
involved in protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	9398847	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: Inferred from direct assay	16314507	GOA
involved in protein targeting to peroxisome	IMP IMP: Inferred from mutant phenotype	11439091	GOA
involved in protein unfolding	IDA IDA: Inferred from direct assay	16854980	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9588209	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16854980	GOA
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	21362118	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	11439091	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	16854980	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

Protein Preferred Names

Protein Names

peroxisome biogenesis factor 1

Zellweger syndrome

PEX1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PEX1	O43933	PEX6	Homo sapiens	Q13608	Anti Bait CoIP	9588209

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects	Heimler Syndrome
HMLR1	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
Peroxisome Biogenesis Disorder 1c	Pbd1c
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
Peroxisomal Biogenesis Disorder 1c	Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome	Heimler, Syndrome
Heimler Syndrome, Type 1

Peroxisome Biogenesis Disorder 1a

PBD1A	Zs
Zws	Cerebrohepatorenal Syndrome
Chr	Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome	Chr Syndrome
Zellweger'S Syndrome	Peroxisome Biogenesis Disorder Complementation Group 1
PBD-CG1	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Complementation Group 1	Cerebrohepatorenal Syndrome, Variant Types
Peroxisome Biogenesis Disorder Type 1a	Peroxisome Biogenesis Disorder, Type 1a

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

Neonatal Adrenoleukodystrophy

Nald	Adrenoleukodystrophy Autosomal Neonatal Form
Intermediate Pbd-Zsd	Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Adrenoleukodystrophy, Autosomal, Neonatal Form	Adrenoleukodystrophy Neonatal
Adrenoleukodystrophy, Neonatal

Zellweger Spectrum Disorder

Zsd	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Spectrum	Cerebrohepatorenal Syndrome
Pbd, Zss	Pbd-Zsd
Zellweger Syndrome Spectrum	Zellweger Syndrome

Refsum Disease, Infantile Form

Infantile Refsum Disease	Ird
Infantile Form Of Phytanic Acid Storage Disease

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Mulibrey Nanism

MUL	Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction And Growth Failure	Perheentupa Syndrome
Mulibrey Growth Disorder	Mulibrey Nanism Syndrome
Pericardial Constriction With Growth Failure	Nanism Mulibrey

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

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

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Letalis
JEB1B	Epidermolysis Bullosa Junctionalis, Herlitz Type
Jeb-Herlitz Type	Herlitz-Pearson-Type Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Herlitz Type	Jeb-H
Junctional Epidermolysis Bullosa Generalisata Gravis	Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe	Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Herlitz Type Epidermolysis Bullosa Junctionalis	Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Herlitz Type	Severe Generalized Jeb
Epidermolysis Letalis	Junctional Epidermolysis Bullosa Gravis
Junctional Epidermolysis Bullosa Herlitz-Pearson Type	Herlitz Disease

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

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

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Hypomagnesemia 1, Intestinal

Intestinal Hypomagnesemia 1	HOMG1
Hypomagnesemia With Secondary Hypocalcemia	Hsh
Hypomagnesemic Tetany	Intestinal Hypomagnesemia With Secondary Hypocalcemia
Homg	Hypomagnesemia Caused By Selective Magnesium Malabsorption
Hypomagnesemia Intestinal Type 1	Primary Hypomagnesemia With Secondary Hypocalcemia
Phsh	Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
Familial Primary Hypomagnesemia With Hypocalcuria	Hypomagnesemia 1
Hypomagnesmic Tetany

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS10339	PEX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PEX1	VGNC	VGNC:81736
Rattus norvegicus	PEX1	RGD	RGD:1559939
Bos taurus	PEX1	VGNC	VGNC:32751
Canis familiaris	PEX1	VGNC	VGNC:54790
Mus musculus	PEX1	MGD	MGI:1918632
Felis catus	PEX1	VGNC	VGNC:68791
Others	PEX1	NCBI

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