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SLC25A17 solute carrier family 25 member 17 [ Homo sapiens (human) ]

Gene ID: 10478, updated on 12-May-2019

Summary

Official Symbol
SLC25A17provided by HGNC
Official Full Name
solute carrier family 25 member 17provided by HGNC
Primary source
HGNC:HGNC:10987
See related
Ensembl:ENSG00000100372 MIM:606795
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PMP34
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]
Expression
Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See SLC25A17 in Genome Data Viewer
Location:
22q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (40769630..40819399, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41165636..41215403, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 Neighboring gene melanin concentrating hormone receptor 1 Neighboring gene riboflavin kinase pseudogene Neighboring gene jumping translocation breakpoint pseudogene 1 Neighboring gene microRNA 4766 Neighboring gene ST13 Hsp70 interacting protein Neighboring gene X-prolyl aminopeptidase 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Alpha-oxidation of phytanate, organism-specific biosystem (from REACTOME)
    Alpha-oxidation of phytanate, organism-specific biosystemPhytanic acid arises through ruminant metabolism of chlorophyll and enters the human diet as a constituent of dairy products (Baxter 1968). It can act as an agonist for PPAR and other nuclear hormone...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ADP transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
AMP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMP transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP transmembrane transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
FAD transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FAD transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
FMN transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FMN transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
NAD transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
adenine nucleotide transmembrane transporter activity TAS
Traceable Author Statement
more info
 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
coenzyme A transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
coenzyme A transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ADP transport IEA
Inferred from Electronic Annotation
more info
 
AMP transport IEA
Inferred from Electronic Annotation
more info
 
ATP transport IGI
Inferred from Genetic Interaction
more info
PubMed 
FAD transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
NAD transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
coenzyme A transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
fatty acid alpha-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
PubMed 
fatty acid transport IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peroxisomal membrane protein PMP34
Names
solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282726.1NP_001269655.1  peroxisomal membrane protein PMP34 isoform 2

    See identical proteins and their annotated locations for NP_001269655.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK300553, BX647991, DC397321
    UniProtKB/TrEMBL
    B4DU97
    Conserved Domains (1) summary
    pfam00153
    Location:60160
    Mito_carr; Mitochondrial carrier protein
  2. NM_001282727.1NP_001269656.1  peroxisomal membrane protein PMP34 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks an internal in-frame segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AK298215, BC005957, BX647991, DC397321
    Consensus CDS
    CCDS74868.1
    UniProtKB/Swiss-Prot
    O43808
    UniProtKB/TrEMBL
    B4DP73, F6RTR7
    Related
    ENSP00000438355.2, ENST00000544408.5
    Conserved Domains (1) summary
    pfam00153
    Location:39124
    Mito_carr; Mitochondrial carrier protein
  3. NM_006358.4NP_006349.1  peroxisomal membrane protein PMP34 isoform 1

    See identical proteins and their annotated locations for NP_006349.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC012998, BX647991, DC397321
    Consensus CDS
    CCDS14005.1
    UniProtKB/Swiss-Prot
    O43808
    Related
    ENSP00000390722.2, ENST00000435456.7
    Conserved Domains (1) summary
    pfam00153
    Location:97197
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_104235.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC024741, BX647991, DC397321
    Related
    ENST00000491545.5
  2. NR_104236.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC024741, BX352732, BX647991, DC397321
    Related
    ENST00000263255.10
  3. NR_104237.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AU123445, BC005957, BX647991, DC397321
  4. NR_104238.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks three internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BQ440957, BX647991, DC397321

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    40769630..40819399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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