SLC25A17 - solute carrier family 25 member 17 Gene

Homo sapiens

Also known as PMP34

Gene ID: 10478 | Gene type: protein coding

About SLC25A17

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:40,769,630-40,819,346 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues and 49 paralogues. Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.4) and 25 other tissues.

Summary

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

SLC25A17 Products(3)

mRNA	Protein	Name
NM_001282726.2	NP_001269655.1	peroxisomal membrane protein PMP34 isoform 2
NM_001282727.2	NP_001269656.1	peroxisomal membrane protein PMP34 isoform 3
NM_006358.4	NP_006349.1	peroxisomal membrane protein PMP34 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ADP transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables AMP transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables ATP transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	12445829	GOA
enables FAD transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables FMN transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables NAD transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables coenzyme A transmembrane transporter activity	IDA IDA: Inferred from direct assay	22185573	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10704444	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	11402059	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ATP transport	IGI IGI: Inferred from genetic interaction	12445829	GOA
involved in fatty acid beta-oxidation	IGI IGI: Inferred from genetic interaction	12445829	GOA
involved in fatty acid transport	IGI IGI: Inferred from genetic interaction	12445829	GOA
involved in nucleotide transmembrane transport	IDA IDA: Inferred from direct assay	22185573	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	11121399	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9874197	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

SLC25A17 Protein Structure

Mito_carr

0
100
200
307 a.a.

Protein Preferred Names

Protein Names

peroxisomal membrane protein PMP34

solute carrier family 25 (mitochondrial carrier

SLC25A17 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SLC25A17	O43808	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	SLC25A17	O43808	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	SLC25A17	O43808	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	SLC25A17	O43808	PEX19	Homo sapiens	P40855	Anti Tag CoIP	14709540
Intra	SLC25A17	O43808	PEX19	Homo sapiens	P40855	Far-WB	10704444

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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

Zellweger Syndrome

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

Retinal Dystrophy With Leukodystrophy

RDLKD	Acbd5 Deficiency
Dystrophy, Retinal, With Leukodystrophy

Rhizomelic Chondrodysplasia Punctata

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

Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5	CBAS5
Bile Acid Synthesis Defect, Congenital, 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

Klippel-Feil Syndrome 4

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Demyelinating Disease

Demyelinating Diseases

Demyelinating Disorder

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency	Xp21 Microdeletion Syndrome
Monosomy Xp21	Xp21 Deletion Syndrome
Complex Gkd	Del
Xp21 Contiguous Gene Deletion Syndrome	Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

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

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

Leukodystrophy

Leukodystrophies

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS13097	SLC25A17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC25A17	VGNC	VGNC:34746
Felis catus	SLC25A17	VGNC	VGNC:65259
Canis familiaris	SLC25A17	VGNC	VGNC:46296
Mus musculus	SLC25A17	MGD	MGI:1342248
Macaca mulatta	SLC25A17	VGNC	VGNC:98447
Rattus norvegicus	SLC25A17	RGD	RGD:1311498

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