PEX14 - peroxisomal biogenesis factor 14 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5195

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	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 Set	/	Unkown
HY-175517	PEX5-PEX14 PPI-IN-3	Inhibitor	/	Unkown
HY-182443	PEX5-PEX14 PPI-IN-4	Inhibitor	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	PEX14	NCBI