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

    Gene ID: 10478, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:10987
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC25A17 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40769630..40819346, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41241822..41291529, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41165634..41215350, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41072002-41072502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41075515-41076208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41076631-41077585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41077586-41078539 Neighboring gene Sharpr-MPRA regulatory regions 5578 and 9058 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41079701-41080396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41080397-41081092 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 Neighboring gene melanin concentrating hormone receptor 1 Neighboring gene Sharpr-MPRA regulatory region 1401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41107927-41108443 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41109407-41110282 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41110283-41111157 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41111979-41112145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41117878-41118491 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41124025-41124749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41124750-41125473 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41127319-41127477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41178069-41178568 Neighboring gene RFK pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19100 Neighboring gene jumping translocation breakpoint pseudogene 1 Neighboring gene microRNA 4766 Neighboring gene ST13 Hsp70 interacting protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41252371-41253140 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_001282726.2NP_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_001282727.2NP_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/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
      A8KA59, O43808, Q5TFL0, Q9UGW8, Q9UGY7
      Related
      ENSP00000390722.2, ENST00000435456.7
      Conserved Domains (1) summary
      pfam00153
      Location:97197
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_104235.2 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_104236.2 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_104237.2 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_104238.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      40769630..40819346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      41241822..41291529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)