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    PEX5 peroxisomal biogenesis factor 5 [ Homo sapiens (human) ]

    Gene ID: 5830, updated on 5-Sep-2021

    Summary

    Official Symbol
    PEX5provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 5provided by HGNC
    Primary source
    HGNC:HGNC:9719
    See related
    Ensembl:ENSG00000139197 MIM:600414
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP
    Summary
    The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in testis (RPKM 16.9), brain (RPKM 10.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PEX5 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (7188653..7218574)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7341249..7371170)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene C1RL antisense RNA 1 Neighboring gene retinol binding protein 5 Neighboring gene calsyntenin 3 Neighboring gene acyl-CoA synthetase medium chain family member 6 pseudogene Neighboring gene acyl-CoA synthetase medium chain family member 4 Neighboring gene CD163 molecule like 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    Peroxisome biogenesis disorder 2A (Zellweger)
    MedGen: C3550273 OMIM: 214110 GeneReviews: Not available
    Compare labs
    Peroxisome biogenesis disorder 2B
    MedGen: C3550234 OMIM: 202370 GeneReviews: Zellweger Spectrum Disorder
    Compare labs
    Rhizomelic chondrodysplasia punctata type 5
    MedGen: C4225237 OMIM: 616716 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ50634, FLJ50721, FLJ51948

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peroxisome matrix targeting signal-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables peroxisome matrix targeting signal-1 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peroxisome matrix targeting signal-1 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peroxisome membrane targeting sequence binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peroxisome targeting sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein sequestering activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisomal biogenesis factor 5
    Names
    PTS1 receptor
    peroxin-5
    peroxisomal C-terminal targeting signal import receptor
    peroxisomal import receptor 5
    peroxisomal targeting signal 1 (SKL type) receptor
    peroxisomal targeting signal 1 receptor
    peroxisomal targeting signal import receptor
    peroxisomal targeting signal receptor 1
    peroxisome receptor 1

    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.

    Genomic

    1. NG_008448.1 RefSeqGene

      Range
      6200..27321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000319.5NP_000310.2  peroxisomal biogenesis factor 5 isoform b

      See identical proteins and their annotated locations for NP_000310.2

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS8576.1
      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      A0A0S2Z480
      Related
      ENSP00000266564.3, ENST00000266564.7
      Conserved Domains (3) summary
      sd00006
      Location:480508
      TPR; TPR repeat [structural motif]
      cl02686
      Location:297332
      PRY; SPRY-associated domain
      cl26002
      Location:332575
      TPR_11; TPR repeat
    2. NM_001131023.2NP_001124495.1  peroxisomal biogenesis factor 5 isoform a

      See identical proteins and their annotated locations for NP_001124495.1

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44822.1
      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      B4DR50
      Related
      ENSP00000407401.2, ENST00000434354.6
      Conserved Domains (4) summary
      sd00006
      Location:503531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502568
      TPR_11; TPR repeat
      cl02686
      Location:320355
      PRY; SPRY-associated domain
    3. NM_001131024.2NP_001124496.1  peroxisomal biogenesis factor 5 isoform c

      See identical proteins and their annotated locations for NP_001124496.1

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Related
      ENSP00000266563.5, ENST00000266563.9
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    4. NM_001131025.2NP_001124497.1  peroxisomal biogenesis factor 5 isoform d

      See identical proteins and their annotated locations for NP_001124497.1

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Related
      ENSP00000410159.2, ENST00000420616.6
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    5. NM_001131026.2NP_001124498.1  peroxisomal biogenesis factor 5 isoform d

      See identical proteins and their annotated locations for NP_001124498.1

      Status: REVIEWED

      Source sequence(s)
      AI252784, AK292256
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      A0A0S2Z4H1
      Related
      ENSP00000400647.2, ENST00000455147.6
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    6. NM_001300789.3NP_001287718.2  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS73433.1
      Related
      ENSP00000391601.2, ENST00000412720.6
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    7. NM_001351124.3NP_001338053.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    8. NM_001351126.2NP_001338055.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    9. NM_001351127.2NP_001338056.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    10. NM_001351128.2NP_001338057.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    11. NM_001351130.3NP_001338059.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    12. NM_001351131.2NP_001338060.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    13. NM_001351132.2NP_001338061.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      Related
      ENSP00000502374.1, ENST00000675855.1
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    14. NM_001351133.2NP_001338062.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    15. NM_001351134.2NP_001338063.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    16. NM_001351135.3NP_001338064.2  peroxisomal biogenesis factor 5 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:324561
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:466494
      TPR; TPR repeat [structural motif]
      cl02686
      Location:283318
      PRY; SPRY-associated domain
    17. NM_001351136.2NP_001338065.1  peroxisomal biogenesis factor 5 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (2) summary
      sd00006
      Location:485513
      TPR; TPR repeat [structural motif]
      cl26002
      Location:343580
      TPR_11; TPR repeat
    18. NM_001351137.3NP_001338066.2  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    19. NM_001351138.2NP_001338067.1  peroxisomal biogenesis factor 5 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:324561
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:466494
      TPR; TPR repeat [structural motif]
      cl02686
      Location:283318
      PRY; SPRY-associated domain
    20. NM_001351139.2NP_001338068.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:295538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260295
      PRY; SPRY-associated domain
    21. NM_001351140.2NP_001338069.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:295538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260295
      PRY; SPRY-associated domain
    22. NM_001374645.1NP_001361574.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    23. NM_001374646.1NP_001361575.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    24. NM_001374647.2NP_001361576.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    25. NM_001374648.2NP_001361577.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:309546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268303
      PRY; SPRY-associated domain
    26. NM_001374649.2NP_001361578.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Conserved Domains (3) summary
      TIGR02917
      Location:295538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260295
      PRY; SPRY-associated domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      7188653..7218574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019748.1XP_016875237.1  peroxisomal biogenesis factor 5 isoform X5

      UniProtKB/Swiss-Prot
      P50542
      Conserved Domains (4) summary
      sd00006
      Location:503531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502568
      TPR_11; TPR repeat
      cl02686
      Location:320355
      PRY; SPRY-associated domain
    2. XM_017019749.1XP_016875238.1  peroxisomal biogenesis factor 5 isoform X6

      UniProtKB/Swiss-Prot
      P50542
      UniProtKB/TrEMBL
      A0A0S2Z4H1
      Conserved Domains (3) summary
      TIGR02917
      Location:346583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305340
      PRY; SPRY-associated domain
    3. XM_011520795.1XP_011519097.1  peroxisomal biogenesis factor 5 isoform X5

      See identical proteins and their annotated locations for XP_011519097.1

      UniProtKB/Swiss-Prot
      P50542
      Conserved Domains (4) summary
      sd00006
      Location:503531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502568
      TPR_11; TPR repeat
      cl02686
      Location:320355
      PRY; SPRY-associated domain
    4. XM_017019745.1XP_016875234.1  peroxisomal biogenesis factor 5 isoform X1

    5. XM_011520793.2XP_011519095.1  peroxisomal biogenesis factor 5 isoform X4

      See identical proteins and their annotated locations for XP_011519095.1

      Conserved Domains (4) summary
      sd00006
      Location:524552
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:524557
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:523589
      TPR_11; TPR repeat
      cl02686
      Location:341376
      PRY; SPRY-associated domain
    6. XM_011520802.2XP_011519104.1  peroxisomal biogenesis factor 5 isoform X8

      Conserved Domains (3) summary
      sd00006
      Location:405433
      TPR; TPR repeat [structural motif]
      cl02686
      Location:222257
      PRY; SPRY-associated domain
      cl26002
      Location:263500
      TPR_11; TPR repeat

    RNA

    1. XR_001748833.1 RNA Sequence

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160008.1 Reference GRCh38.p13 PATCHES

      Range
      116339..146260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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