PEX13 - peroxisomal biogenesis factor 13 Gene

Also Known as ZWS; NALD; PBD11A; PBD11B

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5194

About PEX13

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:61,017,720-61,051,990 (from NCBI)

This gene has 5 transcripts (splice variants), 193 orthologues and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

PEX13 Products (1)

mRNA	Protein	Name
NM_002618.4	NP_002609.1	peroxisome biogenesis factor 13

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	8858165	GOA
enables protein transmembrane transporter activity	IDA IDA: Inferred from direct assay	28765278	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 protein import into peroxisome matrix, docking	IDA IDA: Inferred from direct assay	28765278	GOA
involved in protein import into peroxisome matrix, docking	IMP IMP: Inferred from mutant phenotype	8858165	GOA
involved in protein import into peroxisome matrix, translocation	IDA IDA: Inferred from direct assay	28765278	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	8858165	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	11829486	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

PEX13 Protein Structure

Peroxin-13_N

SH3_9

0
100
200
300
403 a.a.

Protein Preferred Names	Protein Names
peroxisome biogenesis factor 13	peroxin-13

PEX13 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	PEX13	Q92968	PEX19	Homo sapiens	P40855	FPS	20531392
Intra	PEX13	Q92968	CEP19	Homo sapiens	Q96LK0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Peroxisome Biogenesis Disorder 11b	PBD11B Peroxisome Biogenesis Disorder, Type 11b
Peroxisome Biogenesis Disorder 11a	PBD11A Peroxisome Biogenesis Disorder Complementation Group 13 PBD-CG13 Cg13 Pbd-Cgh Peroxisome Biogenesis Disorder Complementation Group H Peroxisome Biogenesis Disorder, Type 11a Peroxisome Biogenesis Disorder, Complementation Group 13
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
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Zellweger Spectrum Disorder	Zsd Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Zellweger Spectrum Cerebrohepatorenal Syndrome Pbd, Zss Pbd-Zsd Zellweger Syndrome Spectrum Zellweger Syndrome
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
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
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
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
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
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Chromosome 2p16.1-P15 Deletion Syndrome	2p15p16.1 Microdeletion Syndrome 2p15-P16.1 Microdeletion Syndrome Del(2)(P15p16.1) Monosomy 2p15p16.1 Monosomy 2p15-P16.1
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
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
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
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Leukodystrophy	Leukodystrophies

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS10344	PEX13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	PEX13	VGNC	VGNC:75949
Bos taurus	PEX13	VGNC	VGNC:32755
Canis familiaris	PEX13	VGNC	VGNC:44430
Rattus norvegicus	PEX13	RGD	RGD:1310682
Mus musculus	PEX13	MGD	MGI:1919379
Others	PEX13	NCBI