PEX19 - peroxisomal biogenesis factor 19 Gene

Also Known as PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5824

About PEX19

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,276,807-160,285,151 (from NCBI)

This gene has 12 transcripts (splice variants), 197 orthologues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 51.2), thyroid (RPKM 26.4) and 24 other tissues.

Summary

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

PEX19 Products (2)

mRNA	Protein	Name
NM_001193644.1	NP_001180573.1	peroxisomal biogenesis factor 19 isoform c
NM_002857.4	NP_002848.1	peroxisomal biogenesis factor 19 isoform a

PEX19 Protein Structure

Pex19

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
peroxisomal biogenesis factor 19	33 kDa housekeeping protein

PEX19 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PEX19	P40855	PSORS1C2	Homo sapiens	Q9UIG4	Validated Y2H	32296183
Intra	PEX19	P40855	PXMP2	Homo sapiens	Q9NR77	Pull Down	21102411
Intra	PEX19	P40855	PXMP2	Homo sapiens	Q9NR77	Anti Tag CoIP	33961781
Intra	PEX19	P40855	PXMP2	Homo sapiens	Q9NR77	Anti Tag CoIP	28514442
Intra	PEX19	P40855	NAT8L	Homo sapiens	Q8N9F0	Validated Y2H	32296183
Intra	PEX19	P40855	IL23A	Homo sapiens	Q9NPF7	Y2H Prey Pooling	25416956
Intra	PEX19	P40855	IL23A	Homo sapiens	Q9NPF7	Validated Y2H	32296183
Intra	PEX19	P40855	IL23A	Homo sapiens	Q9NPF7	Y2H Array	25416956
Intra	PEX19	P40855	TXN2	Homo sapiens	Q99757	Validated Y2H	32296183
Intra	PEX19	P40855	PPIB	Homo sapiens	P23284	Y2H Array	25416956
Intra	PEX19	P40855	FKBP7	Homo sapiens	Q9Y680	Validated Y2H	25416956
Intra	PEX19	P40855	FKBP7	Homo sapiens	Q9Y680	Y2H Prey Pooling	25416956
Intra	PEX19	P40855	SUOX	Homo sapiens	P51687	Validated Y2H	32296183
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	SLC	31467278
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	Complementation	31467278
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	Peptide Array	20531392
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	Ub Reconstruction	12096124
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	FPS	20531392
Intra	PEX19	P40855	PEX11B	Homo sapiens	O96011	BRET	29997244
Intra	PEX19	P40855	PEX12	Homo sapiens	O00623	Y2H	10704444
Intra	PEX19	P40855	PEX13	Homo sapiens	Q92968	Y2H	10704444
Intra	PEX19	P40855	PEX13	Homo sapiens	Q92968	Far-WB	10704444
Intra	PEX19	P40855	PEX13	Homo sapiens	Q92968	FPS	20531392
Intra	PEX19	P40855	PEX13	Homo sapiens	Q92968	Peptide Array	20531392
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Validated Y2H	27107012
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Y2H Prey Pooling	25416956
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Y2H Array	31467278
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	SPR	21102411
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Far-WB	10704444
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Anti Tag CoIP	28514442
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	X-Ray Diffraction	21102411
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Y2H Array	25416956
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Y2H Array	25502805
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	BRET	29997244
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	SLC	31467278
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Y2H Pooling	16189514
Intra	PEX19	P40855	PEX3	Homo sapiens	P56589	Pull Down	21102411
Intra	PEX19	P40855	SLC25A17	Homo sapiens	O43808	Anti Tag CoIP	11402059
Intra	PEX19	P40855	PEX2	Homo sapiens	P28328	Peptide Array	20531392
Intra	PEX19	P40855	PEX2	Homo sapiens	P28328	Anti Tag CoIP	33961781
Intra	PEX19	P40855	PEX26	Homo sapiens	Q7Z412	Validated Y2H	32296183
Intra	PEX19	P40855	PEX26	Homo sapiens	Q7Z412	Peptide Array	20531392
Intra	PEX19	P40855	ABCD3	Homo sapiens	P28288	IF	21102411
Intra	PEX19	P40855	ABCD3	Homo sapiens	P28288	Anti Tag CoIP	14709540
Intra	PEX19	P40855	ABCD1	Homo sapiens	P33897	Peptide Array	20531392
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	Lumier	32814053
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	Anti Tag CoIP	33961781
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	Peptide Array	20531392
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	Complementation	31467278
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	Ub Reconstruction	12096124
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	BRET	29997244
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	SLC	31467278
Intra	PEX19	P40855	PEX16	Homo sapiens	Q9Y5Y5	MAPPIT	31467278

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PEX19 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P700383	PEX19 Protein, Human (GST)	P40855 (A2-C296)	≥ 90%, as determined by reducing SDS-PAGE.

PEX19 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83143	PEX19 Antibody (YA2888)	WB, ICC/IF, FC, IP	Human, Rat

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 12a	PBD12A Peroxisome Biogenesis Disorder Complementation Group 14 PBD-CG14 Cg14 Pbd-Cgj Peroxisome Biogenesis Disorder Complementation Group J Peroxisome Biogenesis Disorder, Type 12a Peroxisome Biogenesis Disorder, Complementation Group 14
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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
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
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
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Encephalitozoonosis	Infection By Encephalitozoon
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
Appendiceal Neoplasm	Appendix Neoplasm Neoplasm Of Appendix Appendiceal Neoplasms Appendiceal Cancer Appendix Cancer Malignant Neoplasm Of Appendix Vermiformis Malignant Tumour Of Appendix
Coccidioidomycosis	Valley Fever Primary Extrapulmonary Coccidioidomycosis Coccidioides Immitis Infection Coccidiosis Coccidioides Infection Coccidioidomycosis, Unspecified San Joaquin Fever California Disease Desert Fever Desert Rheumatism San Joaquin Valley Fever Enteric Coccidiosis Primary Pulmonary Coccidioidomycosis Acute Coccidioidomycosis Posadas Wernicke Disease
Appendix Cancer	Appendiceal Neoplasms Cancer Of The Appendix Malignant Neoplasm Of Appendix Vermiformis Malignant Tumor Of Appendix Malignant Tumor Of The Appendix Malignant Neoplasm Of Appendix Carcinoma Of The Appendix
Appendix Disease	Disorder Of Appendix
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Acatalasemia	Acatalasia Catalase Deficiency Deficiency Of Catalase ACATLAS Takahara'S Disease Takahara 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
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Microsporidiosis	Infection By Microspora Microsporidiasis Infection By Microsporea Infection By Microsporida Intestinal Microsporidiosis Microsporidia Infection Infection By Microsporidia
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

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 (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10347	PEX19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20079	Pex19 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26582	Pex19 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PEX19	RGD	RGD:1306913
Bos taurus	PEX19	VGNC	VGNC:32758
Canis familiaris	PEX19	VGNC	VGNC:44432
Mus musculus	PEX19	MGD	MGI:1334458
Felis catus	PEX19	VGNC	VGNC:69189
Others	PEX19	NCBI