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    PEX5L peroxisomal biogenesis factor 5 like [ Homo sapiens (human) ]

    Gene ID: 51555, updated on 17-Jun-2019

    Summary

    Official Symbol
    PEX5Lprovided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 5 likeprovided by HGNC
    Primary source
    HGNC:HGNC:30024
    See related
    Ensembl:ENSG00000114757 MIM:611058
    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
    PXR2; PEX5R; PXR2B; PEX5RP; TRIP8b
    Expression
    Biased expression in brain (RPKM 6.5), testis (RPKM 0.6) and 1 other tissue See more
    Orthologs

    Genomic context

    See PEX5L in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (179794958..180037009, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179512746..179754841, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986158 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 Neighboring gene ubiquitin specific peptidase 13 Neighboring gene PEX5L antisense RNA 2 Neighboring gene RNA, 5S ribosomal pseudogene 149 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 36

    Genomic regions, transcripts, and products

    Expression

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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of peroxisomal biogenesis factor 5-like (PEX5L; PXR2B) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp761J2017

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peroxisome matrix targeting signal-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peroxisome targeting sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    protein import into peroxisome matrix, docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cAMP-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    PEX5-related protein
    Names
    HCN channel auxiliary subunit
    PEX2-related protein
    PEX5-like protein
    Pex5p-related protein
    peroxin-5-related protein
    peroxisome biogenesis factor 5-like
    tetratricopeptide repeat-containing Rab8b-interacting protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    mRNA and Protein(s)

    1. NM_001256750.2NP_001243679.1  PEX5-related protein isoform 2

      See identical proteins and their annotated locations for NP_001243679.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes isoform 2.
      Source sequence(s)
      AB032592, AC007687, DA772743
      Consensus CDS
      CCDS58866.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000263962.8, ENST00000263962.12
      Conserved Domains (4) summary
      COG0457
      Location:264537
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:472500
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:509539
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:508569
      TPR_11; TPR repeat
    2. NM_001256751.2NP_001243680.1  PEX5-related protein isoform 3

      See identical proteins and their annotated locations for NP_001243680.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes isoform 3.
      Source sequence(s)
      AB032593, AC007687, AK299633, DA772743
      Consensus CDS
      CCDS58865.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000419348.1, ENST00000465751.5
      Conserved Domains (4) summary
      COG0457
      Location:242515
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:450478
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:487517
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:486547
      TPR_11; TPR repeat
    3. NM_001256752.2NP_001243681.1  PEX5-related protein isoform 4

      See identical proteins and their annotated locations for NP_001243681.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes isoform 4.
      Source sequence(s)
      AB032592, AC007687, BC036183, DA772743
      Consensus CDS
      CCDS58867.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000418440.1, ENST00000485199.5
      Conserved Domains (4) summary
      COG0457
      Location:231504
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:439467
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:476506
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:475536
      TPR_11; TPR repeat
    4. NM_001256753.2NP_001243682.1  PEX5-related protein isoform 5

      See identical proteins and their annotated locations for NP_001243682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes isoform 5.
      Source sequence(s)
      AB032593, AC007687, AK294501, DA772743
      Consensus CDS
      CCDS58864.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000418054.1, ENST00000472994.5
      Conserved Domains (4) summary
      COG0457
      Location:207480
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:415443
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:452482
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:451512
      TPR_11; TPR repeat
    5. NM_001256754.2NP_001243683.1  PEX5-related protein isoform 6

      See identical proteins and their annotated locations for NP_001243683.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 18, encodes isoform 6.
      Source sequence(s)
      AC007687, AC092939, AK295386, AK303716
      Consensus CDS
      CCDS58863.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000420555.1, ENST00000476138.5
      Conserved Domains (2) summary
      sd00006
      Location:431459
      TPR; TPR repeat [structural motif]
      cl26002
      Location:288518
      TPR_11; TPR repeat
    6. NM_001256755.2NP_001243684.1  PEX5-related protein isoform 7

      See identical proteins and their annotated locations for NP_001243684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes isoform 7.
      Source sequence(s)
      AC007687, AC092939, AK295349, AK295386, AK303716
      Consensus CDS
      CCDS58862.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000417270.1, ENST00000464614.5
      Conserved Domains (2) summary
      sd00006
      Location:366394
      TPR; TPR repeat [structural motif]
      cl26002
      Location:223453
      TPR_11; TPR repeat
    7. NM_001256756.2NP_001243685.1  PEX5-related protein isoform 8

      See identical proteins and their annotated locations for NP_001243685.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 22-28, encodes isoform 8.
      Source sequence(s)
      AB032593, AC007687, AC092939, AK295386
      Consensus CDS
      CCDS58861.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000418665.1, ENST00000468741.5
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    8. NM_001349386.2NP_001336315.1  PEX5-related protein isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) encodes the longest isoform (9).
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:529557
      TPR; TPR repeat [structural motif]
      cl26002
      Location:386616
      TPR_11; TPR repeat
    9. NM_001349387.2NP_001336316.1  PEX5-related protein isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 11, encodes isoform 10.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:498526
      TPR; TPR repeat [structural motif]
      cl26002
      Location:355585
      TPR_11; TPR repeat
    10. NM_001349388.2NP_001336317.1  PEX5-related protein isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variant 10, encodes isoform 10.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:498526
      TPR; TPR repeat [structural motif]
      cl26002
      Location:355585
      TPR_11; TPR repeat
    11. NM_001349389.2NP_001336318.1  PEX5-related protein isoform 11

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) encodes isoform 11.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:496524
      TPR; TPR repeat [structural motif]
      cl26002
      Location:353583
      TPR_11; TPR repeat
    12. NM_001349390.2NP_001336319.1  PEX5-related protein isoform 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) encodes isoform 12.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:494522
      TPR; TPR repeat [structural motif]
      cl26002
      Location:351581
      TPR_11; TPR repeat
    13. NM_001349391.2NP_001336320.1  PEX5-related protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) encodes isoform 13.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:464492
      TPR; TPR repeat [structural motif]
      cl26002
      Location:321551
      TPR_11; TPR repeat
    14. NM_001349392.2NP_001336321.1  PEX5-related protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variant 16, encodes isoform 14.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:463491
      TPR; TPR repeat [structural motif]
      cl26002
      Location:320550
      TPR_11; TPR repeat
    15. NM_001349393.2NP_001336322.1  PEX5-related protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variant 15, encodes isoform 14.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:463491
      TPR; TPR repeat [structural motif]
      cl26002
      Location:320550
      TPR_11; TPR repeat
    16. NM_001349394.2NP_001336323.1  PEX5-related protein isoform 15

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) encodes isoform 15.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:433461
      TPR; TPR repeat [structural motif]
      cl26002
      Location:290520
      TPR_11; TPR repeat
    17. NM_001349395.2NP_001336324.1  PEX5-related protein isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variant 6, encodes isoform 6.
      Source sequence(s)
      AC007687, AC092939
      Consensus CDS
      CCDS58863.1
      Conserved Domains (2) summary
      sd00006
      Location:431459
      TPR; TPR repeat [structural motif]
      cl26002
      Location:288518
      TPR_11; TPR repeat
    18. NM_001349396.2NP_001336325.1  PEX5-related protein isoform 16

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19) encodes isoform 16.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:407435
      TPR; TPR repeat [structural motif]
      cl26002
      Location:264494
      TPR_11; TPR repeat
    19. NM_001349397.2NP_001336326.1  PEX5-related protein isoform 17

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) encodes isoform 17.
      Source sequence(s)
      AC007687, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:398426
      TPR; TPR repeat [structural motif]
      cl26002
      Location:255485
      TPR_11; TPR repeat
    20. NM_001349398.2NP_001336327.1  PEX5-related protein isoform 18

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) encodes isoform 18.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Conserved Domains (2) summary
      sd00006
      Location:385413
      TPR; TPR repeat [structural motif]
      cl26002
      Location:242472
      TPR_11; TPR repeat
    21. NM_001349399.2NP_001336328.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variants 8 and 23-28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    22. NM_001349401.2NP_001336330.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23), as well as variants 8, 22, and 24-28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    23. NM_001349404.2NP_001336333.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24), as well as variants 8, 22, 23, and 25-28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC090024, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    24. NM_001349406.2NP_001336335.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25), as well as variants 8, 22-24, and 26-28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    25. NM_001349408.2NP_001336337.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26), as well as variants 8, 22-25, 27, and 28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    26. NM_001349409.2NP_001336338.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 8, 22-26, and 28, encodes isoform 8.
      Source sequence(s)
      AC007687, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    27. NM_001349410.2NP_001336339.1  PEX5-related protein isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28), as well as variants 8 and 22-27, encodes isoform 8.
      Source sequence(s)
      AC007687, AC092939
      Consensus CDS
      CCDS58861.1
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    28. NM_016559.3NP_057643.1  PEX5-related protein isoform 1

      See identical proteins and their annotated locations for NP_057643.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB032593, AC007687, DA772743
      Consensus CDS
      CCDS3236.1
      UniProtKB/Swiss-Prot
      Q8IYB4
      Related
      ENSP00000419975.1, ENST00000467460.6
      Conserved Domains (4) summary
      COG0457
      Location:266539
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:474502
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:511541
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:510571
      TPR_11; TPR repeat

    RNA

    1. NR_146167.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007687, AC092939

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      179794958..180037009 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006608.1XP_016862097.1  PEX5-related protein isoform X6

      UniProtKB/Swiss-Prot
      Q8IYB4
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    2. XM_024453592.1XP_024309360.1  PEX5-related protein isoform X3

      Conserved Domains (2) summary
      sd00006
      Location:486514
      TPR; TPR repeat [structural motif]
      cl26002
      Location:343573
      TPR_11; TPR repeat
    3. XM_024453593.1XP_024309361.1  PEX5-related protein isoform X5

      Conserved Domains (2) summary
      sd00006
      Location:429457
      TPR; TPR repeat [structural motif]
      cl26002
      Location:286516
      TPR_11; TPR repeat
    4. XM_024453590.1XP_024309358.1  PEX5-related protein isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:551579
      TPR; TPR repeat [structural motif]
      cl26002
      Location:408638
      TPR_11; TPR repeat
    5. XM_024453591.1XP_024309359.1  PEX5-related protein isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:520548
      TPR; TPR repeat [structural motif]
      cl26002
      Location:377607
      TPR_11; TPR repeat
    6. XM_017006607.1XP_016862096.1  PEX5-related protein isoform X6

      UniProtKB/Swiss-Prot
      Q8IYB4
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    7. XM_011512892.2XP_011511194.1  PEX5-related protein isoform X6

      See identical proteins and their annotated locations for XP_011511194.1

      UniProtKB/Swiss-Prot
      Q8IYB4
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    8. XM_011512891.2XP_011511193.1  PEX5-related protein isoform X6

      See identical proteins and their annotated locations for XP_011511193.1

      UniProtKB/Swiss-Prot
      Q8IYB4
      Conserved Domains (2) summary
      sd00006
      Location:282310
      TPR; TPR repeat [structural motif]
      cl26002
      Location:139369
      TPR_11; TPR repeat
    9. XM_011512888.2XP_011511190.1  PEX5-related protein isoform X4

      Conserved Domains (4) summary
      COG0457
      Location:236509
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:444472
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:481511
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:480541
      TPR_11; TPR repeat
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