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

Gene ID: 5830, updated on 1-Jun-2020

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

Genomic context

See PEX5 in Genome Data Viewer
Location:
12p13.31
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (7188653..7218574)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7341759..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
Neonatal adrenoleucodystrophy
MedGen: C3550234 OMIM: 202370 GeneReviews: Zellweger Spectrum Disorder
Compare labs
Peroxisome biogenesis disorder 2A (Zellweger)
MedGen: C3550273 OMIM: 214110 GeneReviews: Not available
Compare labs
Rhizomelic chondrodysplasia punctata type 5
MedGen: C4225237 OMIM: 616716 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

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
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
peroxisome matrix targeting signal-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome matrix targeting signal-1 binding IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome matrix targeting signal-1 binding IPI
Inferred from Physical Interaction
more info
PubMed 
peroxisome membrane targeting sequence binding IPI
Inferred from Physical Interaction
more info
PubMed 
peroxisome targeting sequence binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein import into peroxisome matrix IGI
Inferred from Genetic Interaction
more info
PubMed 
protein import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix NAS
Non-traceable Author Statement
more info
PubMed 
protein import into peroxisome matrix, docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into peroxisome matrix, docking IDA
Inferred from Direct Assay
more info
PubMed 
protein import into peroxisome membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  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
  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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    cl26002
    Location:309546
    TPR_11; TPR repeat
  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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  13. NM_001351132.2NP_001338061.1  peroxisomal biogenesis factor 5 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC018653
    Consensus CDS
    CCDS44823.1
    Conserved Domains (3) summary
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  16. NM_001351135.3NP_001338064.2  peroxisomal biogenesis factor 5 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC018653
  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
  19. NM_001351138.2NP_001338067.1  peroxisomal biogenesis factor 5 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC018653
    Conserved Domains (3) summary
    sd00006
    Location:466494
    TPR; TPR repeat [structural motif]
    cl02686
    Location:283318
    PRY; SPRY-associated domain
    cl26002
    Location:324561
    TPR_11; TPR repeat
  20. NM_001351139.2NP_001338068.1  peroxisomal biogenesis factor 5 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC018653
    Conserved Domains (3) summary
    sd00006
    Location:443471
    TPR; TPR repeat [structural motif]
    cl02686
    Location:260295
    PRY; SPRY-associated domain
    cl26002
    Location:295538
    TPR_11; TPR repeat
  21. NM_001351140.2NP_001338069.1  peroxisomal biogenesis factor 5 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC018653
    Conserved Domains (3) summary
    sd00006
    Location:443471
    TPR; TPR repeat [structural motif]
    cl02686
    Location:260295
    PRY; SPRY-associated domain
    cl26002
    Location:295538
    TPR_11; TPR repeat
  22. NM_001374645.1NP_001361574.1  peroxisomal biogenesis factor 5 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC018653
  23. NM_001374646.1NP_001361575.1  peroxisomal biogenesis factor 5 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC018653
  24. NM_001374647.2NP_001361576.1  peroxisomal biogenesis factor 5 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC018653
  25. NM_001374648.2NP_001361577.1  peroxisomal biogenesis factor 5 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC018653
  26. NM_001374649.2NP_001361578.1  peroxisomal biogenesis factor 5 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC018653

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    cl26002
    Location:346583
    TPR_11; TPR repeat
  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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