PEX14 - peroxisomal biogenesis factor 14 Gene

Homo sapiens

Also known as NAPP2; PBD13A; Pex14p; dJ734G22.2

Gene ID: 5195 | Gene type: protein coding

About PEX14

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,474,950-10,630,758 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 6 phenotypes. Ubiquitous expression in prostate (RPKM 3.2), urinary bladder (RPKM 3.0) and 25 other tissues.

Summary

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

PEX14 Products(1)

mRNA	Protein	Name
NM_004565.3	NP_004556.1	peroxisomal membrane protein PEX14

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-tubulin binding	IPI IPI: Inferred from physical interaction	21525035	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	12488033	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	21525035	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9653144	GOA
enables protein transmembrane transporter activity	IDA IDA: Inferred from direct assay	28765278	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	11438541	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	10022913	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	11863372	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	26344566	GOA
involved in microtubule anchoring	IDA IDA: Inferred from direct assay	21525035	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11863372	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11863372	GOA
involved in negative regulation of protein binding	IDA IDA: Inferred from direct assay	21976670	GOA
NOT involved in peroxisome organization	IGI IGI: Inferred from genetic interaction	10022913	GOA
involved in peroxisome transport along microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
involved in protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	15146459	GOA
involved in protein import into peroxisome matrix, docking	IDA IDA: Inferred from direct assay	11438541	GOA
involved in protein import into peroxisome matrix, substrate release	IDA IDA: Inferred from direct assay	21976670	GOA
involved in protein import into peroxisome matrix, translocation	IDA IDA: Inferred from direct assay	21525035	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	21525035	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	19197237	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	10022913	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	16449325	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	19584060	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

PEX14 Protein Structure

Pex14_N

0
100
200
300
377 a.a.

Protein Preferred Names

Protein Names

peroxisomal membrane protein PEX14

NF-E2 associated polypeptide 2

PEX14 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PEX14	O75381	MARF1	Homo sapiens	Q9Y4F3	Validated Y2H	32296183
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Pull Down	21525035
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	BRET	29997244
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	SLC	31467278
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	GMS	21525035
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	MAPPIT	31467278
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	BRET	37398436
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Peptide Array	19197237
Intra	PEX14	O75381	PEX19	Homo sapiens	P40855	Beta Lactamase	12096124
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Peptide Array	19197237
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	GMS	21525035
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	ITC	19197237
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Pull Down	21525035
Intra	PEX14	O75381	PEX5	Homo sapiens	P50542	Ub Reconstruction	12096124
Intra	PEX14	O75381	CENPK	Homo sapiens	Q9BS16	Validated Y2H	32296183
Intra	PEX14	O75381	CENPK	Homo sapiens	Q9BS16	Y2H Array	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Validated Y2H	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Y2H Array	32296183
Intra	PEX14	O75381	COPS4	Homo sapiens	Q9BT78	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 13a

PBD13A	Peroxisome Biogenesis Disorder Complementation Group K
PBD-CGK	Peroxisome Biogenesis Disorder, Complementation Group K
Peroxisome Biogenesis Disorder, Type 13a

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 Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

Rhizomelic Chondrodysplasia Punctata

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

Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5	RCDP5
Rhizomelic Chondrodysplasia Punctata 5	Chondrodysplasia Punctata, Rhizomelic, Type 5

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

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-155530	PEX5-PEX14 PPI-IN-1		/	Unkown
HY-155531	PEX5-PEX14 PPI-IN-2		/	Unkown
HY-RS10345	PEX14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PEX14	VGNC	VGNC:97802
Rattus norvegicus	PEX14	RGD	RGD:68336
Felis catus	PEX14	VGNC	VGNC:80301
Bos taurus	PEX14	VGNC	VGNC:32756
Canis familiaris	PEX14	VGNC	VGNC:82292
Mus musculus	PEX14	MGD	MGI:1927868

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