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] See more...

Aliases for SLC25A17 Gene

Aliases for SLC25A17 Gene

  • Solute Carrier Family 25 Member 17 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Peroxisomal Membrane Protein, 34kDa), Member 17 2 3
  • Peroxisomal Membrane Protein PMP34 3 4
  • PMP34 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier; Peroxisomal Membrane Protein, 34kD), Member 17 2
  • 34 KDa Peroxisomal Membrane Protein 4
  • Peroxisomal Membrane Protein (34kD) 2

External Ids for SLC25A17 Gene

Previous GeneCards Identifiers for SLC25A17 Gene

  • GC22M037780
  • GC22M039408
  • GC22M039409
  • GC22M039490
  • GC22M041165
  • GC22M024127
  • GC22M040771
  • GC22M040772
  • GC22M042784
  • GC22M042896
  • GC22M042955
  • GC22M040774
  • GC22M040918
  • GC22M040920
  • GC22M041089
  • GC22M041487
  • GC22M041895
  • GC22M042325
  • GC22M042674

Summaries for SLC25A17 Gene

Entrez Gene Summary for SLC25A17 Gene

  • 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]

GeneCards Summary for SLC25A17 Gene

SLC25A17 (Solute Carrier Family 25 Member 17) is a Protein Coding gene. Diseases associated with SLC25A17 include Adrenoleukodystrophy and Peroxisomal Disease. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. Gene Ontology (GO) annotations related to this gene include transporter activity and ATP transmembrane transporter activity. An important paralog of this gene is SLC25A29.

UniProtKB/Swiss-Prot Summary for SLC25A17 Gene

  • Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro.

Gene Wiki entry for SLC25A17 Gene

Additional gene information for SLC25A17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A17 Gene

Genomics for SLC25A17 Gene

GeneHancer (GH) Regulatory Elements for SLC25A17 Gene

Promoters and enhancers for SLC25A17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A17 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A17

Top Transcription factor binding sites by QIAGEN in the SLC25A17 gene promoter:
  • Evi-1
  • IRF-7A
  • NCX
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-5

Genomic Locations for SLC25A17 Gene

Genomic Locations for SLC25A17 Gene
chr22:40,769,630-40,819,399
(GRCh38/hg38)
Size:
49,770 bases
Orientation:
Minus strand
chr22:41,165,634-41,215,403
(GRCh37/hg19)
Size:
49,770 bases
Orientation:
Minus strand

Genomic View for SLC25A17 Gene

Genes around SLC25A17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A17 Gene

Proteins for SLC25A17 Gene

  • Protein details for SLC25A17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43808-PM34_HUMAN
    Recommended name:
    Peroxisomal membrane protein PMP34
    Protein Accession:
    O43808
    Secondary Accessions:
    • A8KA59
    • Q5TFL0
    • Q9UGW8
    • Q9UGY7

    Protein attributes for SLC25A17 Gene

    Size:
    307 amino acids
    Molecular mass:
    34567 Da
    Quaternary structure:
    • Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with the newly synthesized SLC25A17 in the cytosol.

neXtProt entry for SLC25A17 Gene

Post-translational modifications for SLC25A17 Gene

  • Ubiquitination at Lys268
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A17 Gene

Domains & Families for SLC25A17 Gene

Gene Families for SLC25A17 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A17 Gene

Suggested Antigen Peptide Sequences for SLC25A17 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57596, highly similar to Peroxisomal membrane protein PMP34 (B4DU97_HUMAN)
  • Solute carrier family 25 member 17 (PM34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43808

UniProtKB/Swiss-Prot:

PM34_HUMAN :
  • The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Domain:
  • The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A17: view

Function for SLC25A17 Gene

Molecular function for SLC25A17 Gene

UniProtKB/Swiss-Prot Function:
Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro.
GENATLAS Biochemistry:
solute carrier protein family 25,member A17,mitochondrial carrier,peroxisomal protein,34kDa,widely expressed

Phenotypes From GWAS Catalog for SLC25A17 Gene

Gene Ontology (GO) - Molecular Function for SLC25A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000295 adenine nucleotide transmembrane transporter activity TAS --
GO:0005347 ATP transmembrane transporter activity IGI,IBA 12445829
GO:0005515 protein binding IPI 10704444
GO:0015217 ADP transmembrane transporter activity IDA 22185573
GO:0015228 coenzyme A transmembrane transporter activity IDA 22185573
genes like me logo Genes that share ontologies with SLC25A17: view
genes like me logo Genes that share phenotypes with SLC25A17: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A17

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A17

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A17 Gene

Localization for SLC25A17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A17 Gene

Cytoplasm. Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A17 gene
Compartment Confidence
peroxisome 5
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IDA 9874197
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IDA,IBA 11121399
genes like me logo Genes that share ontologies with SLC25A17: view

Pathways & Interactions for SLC25A17 Gene

genes like me logo Genes that share pathways with SLC25A17: view

Pathways by source for SLC25A17 Gene

1 KEGG pathway for SLC25A17 Gene

Gene Ontology (GO) - Biological Process for SLC25A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation TAS --
GO:0006635 fatty acid beta-oxidation IGI 12445829
GO:0015866 ADP transport IEA --
GO:0015867 ATP transport IGI 12445829
GO:0015908 fatty acid transport IGI 12445829
genes like me logo Genes that share ontologies with SLC25A17: view

No data available for SIGNOR curated interactions for SLC25A17 Gene

Drugs & Compounds for SLC25A17 Gene

(2) Drugs for SLC25A17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SLC25A17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A17: view

Transcripts for SLC25A17 Gene

mRNA/cDNA for SLC25A17 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A17

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A17 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7:
SP8:

Relevant External Links for SLC25A17 Gene

GeneLoc Exon Structure for
SLC25A17

Expression for SLC25A17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A17 Gene

This gene is overexpressed in Plasma (35.4), Adrenal (10.8), and Fetal ovary (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A17 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A17

SOURCE GeneReport for Unigene cluster for SLC25A17 Gene:

Hs.474938

mRNA Expression by UniProt/SwissProt for SLC25A17 Gene:

O43808-PM34_HUMAN
Tissue specificity: Ubiquitous. Expressed in liver.

Evidence on tissue expression from TISSUES for SLC25A17 Gene

  • Liver(4.4)
  • Skin(4.3)
  • Nervous system(4.1)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with SLC25A17: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A17 Gene

Orthologs for SLC25A17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A17 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A17 31 30
  • 93.7 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A17 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A17 31 30
  • 90.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a17 17 31 30
  • 88.17 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a17 30
  • 87.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A17 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A17 31 30
  • 80.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A17 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a17 30
  • 70.89 (n)
Str.1440 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398157 30
zebrafish
(Danio rerio)
Actinopterygii slc25a17 31 30
  • 67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007520 30
  • 56.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32250 31 30
  • 54.58 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02817g 30
  • 46.31 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR147C 30
  • 45.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YEA6 31
  • 24 (a)
ManyToMany
YIA6 31
  • 21 (a)
ManyToMany
ANT1 33
rice
(Oryza sativa)
Liliopsida Os09g0508900 30
  • 47.79 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03556 30
  • 46.45 (n)
Species where no ortholog for SLC25A17 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC25A17 Gene

ENSEMBL:
Gene Tree for SLC25A17 (if available)
TreeFam:
Gene Tree for SLC25A17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A17: view image

Paralogs for SLC25A17 Gene

(5) SIMAP similar genes for SLC25A17 Gene using alignment to 13 proteins:

  • PM34_HUMAN
  • B0QYW5_HUMAN
  • B1AHN4_HUMAN
  • B4DU97_HUMAN
  • F2Z2I9_HUMAN
  • F5GYD1_HUMAN
  • F8WA85_HUMAN
  • F8WBA4_HUMAN
  • F8WCH6_HUMAN
  • F8WCN9_HUMAN
  • F8WE74_HUMAN
  • F8WEC6_HUMAN
  • F8WF87_HUMAN
genes like me logo Genes that share paralogs with SLC25A17: view

Variants for SLC25A17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A17 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs12159334 - p.His98Arg

Additional dbSNP identifiers (rs#s) for SLC25A17 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A17 Gene

Variant ID Type Subtype PubMed ID
esv3568414 CNV loss 25503493
nsv1062438 CNV gain 25217958
nsv1066802 CNV gain 25217958
nsv834205 CNV gain+loss 17160897
nsv834206 CNV gain 17160897

Variation tolerance for SLC25A17 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A17 Gene

Disorders for SLC25A17 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SLC25A17 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenoleukodystrophy
  • sudanophilic cerebral sclerosis
peroxisomal disease
  • peroxisomal disorder
zellweger syndrome
  • zs
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
adrenomyeloneuropathy
  • adrenoleukodystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A17

genes like me logo Genes that share disorders with SLC25A17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A17 Gene

Publications for SLC25A17 Gene

  1. Identification and characterization of human PMP34, a protein closely related to the peroxisomal integral membrane protein PMP47 of Candida boidinii. (PMID: 9874197) Wylin T … Van Veldhoven PP (European journal of biochemistry 1998) 2 3 4 23 54
  2. Identification of human PMP34 as a peroxisomal ATP transporter. (PMID: 12445829) Visser WF … Wanders RJ (Biochemical and biophysical research communications 2002) 3 4 23 54
  3. Multiple distinct targeting signals in integral peroxisomal membrane proteins. (PMID: 11402059) Jones JM … Gould SJ (The Journal of cell biology 2001) 3 4 23 54
  4. Topogenesis of peroxisomal membrane protein requires a short, positively charged intervening-loop sequence and flanking hydrophobic segments. study using human membrane protein PMP34. (PMID: 11121399) Honsho M … Fujiki Y (The Journal of biological chemistry 2001) 3 4 23 54
  5. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PMID: 10704444) Sacksteder KA … Gould SJ (The Journal of cell biology 2000) 3 4 23 54

Products for SLC25A17 Gene

Sources for SLC25A17 Gene