SLC25A17 - solute carrier family 25 member 17 Gene

Also Known as PMP34

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10478

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Mito_carr: Mitochondrial carrier protein (10 - 95)

Mito_carr

Mito_carr: Mitochondrial carrier protein (99 - 196)

Mito_carr

Mito_carr: Mitochondrial carrier protein (201 - 292)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC25A17 O43808 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
SLC25A17 O43808 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
SLC25A17 O43808 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
SLC25A17 O43808 PEX19 Homo sapiens P40855 14709540
Intra
SLC25A17 O43808 PEX19 Homo sapiens P40855 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

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
Others SLC25A17 NCBI