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

    Gene ID: 5830, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:9719
    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
    mouse all
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    Genomic context

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    See PEX5 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7188653..7218574)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7201809..7231939)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7341249..7371170)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7283265-7283766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4199 Neighboring gene retinol binding protein 5 Neighboring gene calsyntenin 3 Neighboring gene Sharpr-MPRA regulatory region 5519 Neighboring gene uncharacterized LOC124902869 Neighboring gene MPRA-validated peak1553 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7340767-7341268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7341269-7341768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7342139-7342855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7342856-7343571 Neighboring gene acyl-CoA synthetase medium chain family member 6 pseudogene Neighboring gene MPRA-validated peak1554 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr12:7434099-7434654 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:7469109-7470308 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:7476238-7477437 Neighboring gene acyl-CoA synthetase medium chain family member 4 Neighboring gene CD163 molecule like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mapping the cargo protein membrane translocation step into the PEX5 cycling pathway. Alencastre IS, et al. J Biol Chem, 2009 Oct 2. PMID 19632994, Free PMC Article
    2. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor. Dodt G, et al. J Cell Biol, 1996 Dec. PMID 8991089, Free PMC Article
    3. PEX5 regulates autophagy via the mTORC1-TFEB axis during starvation. Eun SY, et al. Exp Mol Med, 2018 Apr 6. PMID 29622767, Free PMC Article
    4. Functional variants inPXRare associated with colorectal cancer susceptibility in Chinese populations. Ni H, et al. Cancer Epidemiol, 2015 Dec. PMID 26547791
    5. Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants. Otera H, et al. Mol Cell Biol, 1998 Jan. PMID 9418886, Free PMC Article

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and Validation of a PEX5-Dependent Signature for Prognostic Prediction in Glioma.
      Title: Identification and Validation of a PEX5-Dependent Signature for Prognostic Prediction in Glioma.
    2. Insights into the critical role of the PXR in preventing carcinogenesis and chemotherapeutic drug resistance.
      Title: Insights into the critical role of the PXR in preventing carcinogenesis and chemotherapeutic drug resistance.
    3. A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
      Title: A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
    4. Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
      Title: Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
    5. Mitotic phosphorylation of Pex14p regulates peroxisomal import machinery.
      Title: Mitotic phosphorylation of Pex14p regulates peroxisomal import machinery.
    6. The interactions with the docking proteins were independent of the PEX5 ubiquitination status whereas the interactions with the receptor export machinery (REM) components were increased when PEX5 is ubiquitinated
      Title: Chemically monoubiquitinated PEX5 binds to the components of the peroxisomal docking and export machinery.
    7. These data suggest that PEX5 may be a critical regulator of lysosomal gene expression and autophagy through the mTOR-TFEB-autophagy axis under nutrient deprivation.
      Title: PEX5 regulates autophagy via the mTORC1-TFEB axis during starvation.
    8. This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event.
      Title: Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.
    9. Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)
      Title: A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.
    10. these findings lend credit to the idea that inefficient catalase import, when coupled with the role of PEX5 as a redox-regulated import receptor, constitutes a cellular defense mechanism to combat oxidative insults of extra-peroxisomal origin.
      Title: The peroxisomal import receptor PEX5 functions as a stress sensor, retaining catalase in the cytosol in times of oxidative stress.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    enables peroxisome matrix targeting signal-1 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peroxisome matrix targeting signal-1 binding IMP
    Inferred from Mutant Phenotype
    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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein carrier chaperone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein carrier chaperone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cerebral cortex cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pexophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into peroxisome matrix, docking IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, receptor recycling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, substrate release IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, substrate release IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, substrate release ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein import into peroxisome matrix, translocation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein targeting to peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein targeting to peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein tetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in very long-chain fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in peroxisomal matrix IC
    Inferred by Curator
    more info
    		 PubMed 
    is_active_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in peroxisomal matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in peroxisomal membrane HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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)

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    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
      5524..27297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000319.5 → NP_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/TrEMBL
      A0A0S2Z480, B4DR50
      Related
      ENSP00000266564.3, ENST00000266564.7
      Conserved Domains (3) summary
      sd00006
      Location:480 → 508
      TPR; TPR repeat [structural motif]
      cl02686
      Location:297 → 332
      PRY; SPRY-associated domain
      cl26002
      Location:332 → 575
      TPR_11; TPR repeat

    2. NM_001131023.2 → NP_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/TrEMBL
      B4DR50
      Related
      ENSP00000407401.2, ENST00000434354.6
      Conserved Domains (4) summary
      sd00006
      Location:503 → 531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503 → 536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502 → 568
      TPR_11; TPR repeat
      cl02686
      Location:320 → 355
      PRY; SPRY-associated domain

    3. NM_001131024.2 → NP_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/TrEMBL
      A0A0S2Z4F3, B4DR50
      Related
      ENSP00000266563.5, ENST00000266563.9
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    4. NM_001131025.2 → NP_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
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Related
      ENSP00000410159.2, ENST00000420616.6
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    5. NM_001131026.2 → NP_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
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Related
      ENSP00000400647.2, ENST00000455147.6
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    6. NM_001300789.3 → NP_001287718.2  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    7. NM_001351124.3 → NP_001338053.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    8. NM_001351126.2 → NP_001338055.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    9. NM_001351127.2 → NP_001338056.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    10. NM_001351128.2 → NP_001338057.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    11. NM_001351130.3 → NP_001338059.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    12. NM_001351131.2 → NP_001338060.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    13. NM_001351132.2 → NP_001338061.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Related
      ENSP00000502374.1, ENST00000675855.1
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    14. NM_001351133.2 → NP_001338062.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    15. NM_001351134.2 → NP_001338063.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    16. NM_001351135.3 → NP_001338064.2  peroxisomal biogenesis factor 5 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:324 → 561
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:466 → 494
      TPR; TPR repeat [structural motif]
      cl02686
      Location:283 → 318
      PRY; SPRY-associated domain

    17. NM_001351136.2 → NP_001338065.1  peroxisomal biogenesis factor 5 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (2) summary
      sd00006
      Location:485 → 513
      TPR; TPR repeat [structural motif]
      cl26002
      Location:343 → 580
      TPR_11; TPR repeat

    18. NM_001351137.3 → NP_001338066.2  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    19. NM_001351138.2 → NP_001338067.1  peroxisomal biogenesis factor 5 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:324 → 561
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:466 → 494
      TPR; TPR repeat [structural motif]
      cl02686
      Location:283 → 318
      PRY; SPRY-associated domain

    20. NM_001351139.2 → NP_001338068.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:295 → 538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443 → 471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260 → 295
      PRY; SPRY-associated domain

    21. NM_001351140.2 → NP_001338069.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:295 → 538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443 → 471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260 → 295
      PRY; SPRY-associated domain

    22. NM_001374645.1 → NP_001361574.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    23. NM_001374646.1 → NP_001361575.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    24. NM_001374647.2 → NP_001361576.1  peroxisomal biogenesis factor 5 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44823.1
      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:346 → 583
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:488 → 516
      TPR; TPR repeat [structural motif]
      cl02686
      Location:305 → 340
      PRY; SPRY-associated domain

    25. NM_001374648.2 → NP_001361577.1  peroxisomal biogenesis factor 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC018653
      Consensus CDS
      CCDS44824.1
      UniProtKB/TrEMBL
      A0A0S2Z4F3, B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:309 → 546
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:451 → 479
      TPR; TPR repeat [structural motif]
      cl02686
      Location:268 → 303
      PRY; SPRY-associated domain

    26. NM_001374649.2 → NP_001361578.1  peroxisomal biogenesis factor 5 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC018653
      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (3) summary
      TIGR02917
      Location:295 → 538
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:443 → 471
      TPR; TPR repeat [structural motif]
      cl02686
      Location:260 → 295
      PRY; SPRY-associated domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047429262.1 → XP_047285218.1  peroxisomal biogenesis factor 5 isoform X5

    2. XM_017019748.2 → XP_016875237.1  peroxisomal biogenesis factor 5 isoform X5

      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (4) summary
      sd00006
      Location:503 → 531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503 → 536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502 → 568
      TPR_11; TPR repeat
      cl02686
      Location:320 → 355
      PRY; SPRY-associated domain

    3. XM_047429257.1 → XP_047285213.1  peroxisomal biogenesis factor 5 isoform X1

    4. XM_047429259.1 → XP_047285215.1  peroxisomal biogenesis factor 5 isoform X3

      UniProtKB/TrEMBL
      B4E0T2
      Related
      ENSP00000391601.2, ENST00000412720.6

    5. XM_011520795.2 → XP_011519097.1  peroxisomal biogenesis factor 5 isoform X5

      See identical proteins and their annotated locations for XP_011519097.1

      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (4) summary
      sd00006
      Location:503 → 531
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:503 → 536
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:502 → 568
      TPR_11; TPR repeat
      cl02686
      Location:320 → 355
      PRY; SPRY-associated domain

    6. XM_047429267.1 → XP_047285223.1  peroxisomal biogenesis factor 5 isoform X6

      UniProtKB/TrEMBL
      A0A0S2Z480

    7. XM_011520793.3 → XP_011519095.1  peroxisomal biogenesis factor 5 isoform X1

      See identical proteins and their annotated locations for XP_011519095.1

      UniProtKB/TrEMBL
      B4DR50
      Conserved Domains (4) summary
      sd00006
      Location:524 → 552
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:524 → 557
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:523 → 589
      TPR_11; TPR repeat
      cl02686
      Location:341 → 376
      PRY; SPRY-associated domain

    8. XM_047429258.1 → XP_047285214.1  peroxisomal biogenesis factor 5 isoform X2

    9. XM_047429263.1 → XP_047285219.1  peroxisomal biogenesis factor 5 isoform X4

    10. XM_047429268.1 → XP_047285224.1  peroxisomal biogenesis factor 5 isoform X7

    11. XM_047429265.1 → XP_047285221.1  peroxisomal biogenesis factor 5 isoform X5

      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1

    12. XM_047429260.1 → XP_047285216.1  peroxisomal biogenesis factor 5 isoform X5

    13. XM_047429270.1 → XP_047285226.1  peroxisomal biogenesis factor 5 isoform X8

    14. XM_047429266.1 → XP_047285222.1  peroxisomal biogenesis factor 5 isoform X9

    15. XM_047429264.1 → XP_047285220.1  peroxisomal biogenesis factor 5 isoform X6

    16. XM_047429269.1 → XP_047285225.1  peroxisomal biogenesis factor 5 isoform X8

    RNA

    1. XR_007063107.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160008.1 Reference GRCh38.p14 PATCHES

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

    mRNA and Protein(s)

    1. XM_054332535.1 → XP_054188510.1  peroxisomal biogenesis factor 5 isoform X5

    2. XM_054332534.1 → XP_054188509.1  peroxisomal biogenesis factor 5 isoform X5

    3. XM_054332529.1 → XP_054188504.1  peroxisomal biogenesis factor 5 isoform X1

    4. XM_054332531.1 → XP_054188506.1  peroxisomal biogenesis factor 5 isoform X3

      UniProtKB/TrEMBL
      B4E0T2

    5. XM_054332532.1 → XP_054188507.1  peroxisomal biogenesis factor 5 isoform X5

    6. XM_054332540.1 → XP_054188515.1  peroxisomal biogenesis factor 5 isoform X6

      UniProtKB/TrEMBL
      A0A0S2Z480

    7. XM_054332528.1 → XP_054188503.1  peroxisomal biogenesis factor 5 isoform X1

    8. XM_054332530.1 → XP_054188505.1  peroxisomal biogenesis factor 5 isoform X2

    9. XM_054332536.1 → XP_054188511.1  peroxisomal biogenesis factor 5 isoform X4

    10. XM_054332541.1 → XP_054188516.1  peroxisomal biogenesis factor 5 isoform X7

    11. XM_054332538.1 → XP_054188513.1  peroxisomal biogenesis factor 5 isoform X5

      UniProtKB/Swiss-Prot
      A8K891, B4DZ45, B7ZAD5, D3DUT8, P50542, Q15115, Q15266, Q96FN7
      UniProtKB/TrEMBL
      A0A0S2Z4H1

    12. XM_054332533.1 → XP_054188508.1  peroxisomal biogenesis factor 5 isoform X5

    13. XM_054332543.1 → XP_054188518.1  peroxisomal biogenesis factor 5 isoform X8

    14. XM_054332539.1 → XP_054188514.1  peroxisomal biogenesis factor 5 isoform X9

    15. XM_054332537.1 → XP_054188512.1  peroxisomal biogenesis factor 5 isoform X6

    16. XM_054332542.1 → XP_054188517.1  peroxisomal biogenesis factor 5 isoform X8

    RNA

    1. XR_008485777.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      7201809..7231939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372765.1 → XP_054228740.1  peroxisomal biogenesis factor 5 isoform X5

    2. XM_054372764.1 → XP_054228739.1  peroxisomal biogenesis factor 5 isoform X5

    3. XM_054372760.1 → XP_054228735.1  peroxisomal biogenesis factor 5 isoform X10

    4. XM_054372762.1 → XP_054228737.1  peroxisomal biogenesis factor 5 isoform X1

    5. XM_054372773.1 → XP_054228748.1  peroxisomal biogenesis factor 5 isoform X5

    6. XM_054372769.1 → XP_054228744.1  peroxisomal biogenesis factor 5 isoform X6

    7. XM_054372759.1 → XP_054228734.1  peroxisomal biogenesis factor 5 isoform X10

    8. XM_054372761.1 → XP_054228736.1  peroxisomal biogenesis factor 5 isoform X11

    9. XM_054372766.1 → XP_054228741.1  peroxisomal biogenesis factor 5 isoform X2

    10. XM_054372770.1 → XP_054228745.1  peroxisomal biogenesis factor 5 isoform X13

    11. XM_054372768.1 → XP_054228743.1  peroxisomal biogenesis factor 5 isoform X5

    12. XM_054372763.1 → XP_054228738.1  peroxisomal biogenesis factor 5 isoform X5

    13. XM_054372772.1 → XP_054228747.1  peroxisomal biogenesis factor 5 isoform X8

    14. XM_054372767.1 → XP_054228742.1  peroxisomal biogenesis factor 5 isoform X12

    15. XM_054372771.1 → XP_054228746.1  peroxisomal biogenesis factor 5 isoform X14

    RNA

    1. XR_008488652.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50542.3 GenPept UniProtKB/Swiss-Prot:P50542

    Gene LinkOut

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