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

Gene ID: 5830, updated on 26-May-2016
Official Symbol
PEX5provided by HGNC
Official Full Name
peroxisomal biogenesis factor 5provided by HGNC
Primary source
HGNC:HGNC:9719
See related
Ensembl:ENSG00000139197 HPRD:02684; MIM:600414; Vega:OTTHUMG00000168175
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]
Orthologs
Location:
12p13.31
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (7189163..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 calsyntenin 3 Neighboring gene uncharacterized LOC105369639 Neighboring gene acyl-CoA synthetase medium-chain family member 6 pseudogene Neighboring gene acyl-CoA synthetase medium-chain family member 4 Neighboring gene uncharacterized LOC105369640

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome matrix targeting signal-1 binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisome matrix targeting signal-1 binding IPI
Inferred from Physical Interaction
more info
PubMed 
peroxisome targeting sequence binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
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 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
peroxisomal biogenesis factor 5
Names
PTS1 receptor
peroxin-5
peroxisomal C-terminal targeting signal import receptor
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

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_000319.4NP_000310.2  peroxisomal biogenesis factor 5 isoform b

    See identical proteins and their annotated locations for NP_000310.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, initiates translation from a downstream start codon, and uses an alternate splice site in the central coding region, compared to variant 6. The encoded isoform (b) has a shorter N-terminus compared to isoform e.
    Source sequence(s)
    AK225126, AK302742
    Consensus CDS
    CCDS8576.1
    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z480
    Related
    ENSP00000266564, OTTHUMP00000238356, ENST00000266564, OTTHUMT00000398889
    Conserved Domains (6) summary
    pfam00515
    Location:480513
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:479545
    TPR_11; TPR repeat
    pfam13424
    Location:516580
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:331394
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:297332
    PRY; SPRY-associated domain
    sd00006
    Location:480508
    TPR; TPR repeat [structural motif]
  2. NM_001131023.1NP_001124495.1  peroxisomal biogenesis factor 5 isoform a

    See identical proteins and their annotated locations for NP_001124495.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate 5' terminal exon, and uses an alternate splice site in the 5' coding region, compared to variant 6. The encoded isoform (a) has a distinct N-terminus and is shorter, compared to isoform e.
    Source sequence(s)
    AK225126, AK299105, AK302742
    Consensus CDS
    CCDS44822.1
    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    B4DR50
    Related
    ENSP00000407401, OTTHUMP00000238194, ENST00000434354, OTTHUMT00000398613
    Conserved Domains (6) summary
    pfam00515
    Location:503536
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:502568
    TPR_11; TPR repeat
    pfam13424
    Location:539603
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:354417
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:320355
    PRY; SPRY-associated domain
    sd00006
    Location:503531
    TPR; TPR repeat [structural motif]
  3. NM_001131024.1NP_001124496.1  peroxisomal biogenesis factor 5 isoform c

    See identical proteins and their annotated locations for NP_001124496.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an alternate in-frame exon in the central coding region, compared to variant 6. These differences cause translation initiation at a downstream start codon, resulting in an isoform (c) which has a shorter N-terminus compared to isoform e.
    Source sequence(s)
    AK225126, AK299105, AK302742
    Consensus CDS
    CCDS44824.1
    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4F3, B4DR50
    Related
    ENSP00000266563, OTTHUMP00000238193, ENST00000266563, OTTHUMT00000398612
    Conserved Domains (6) summary
    pfam00515
    Location:451484
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:450516
    TPR_11; TPR repeat
    pfam13424
    Location:487551
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:302365
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:268303
    PRY; SPRY-associated domain
    sd00006
    Location:451479
    TPR; TPR repeat [structural motif]
  4. NM_001131025.1NP_001124497.1  peroxisomal biogenesis factor 5 isoform d

    See identical proteins and their annotated locations for NP_001124497.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 6. The encoded isoform (d) has a shorter N-terminus compared to isoform e. Variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AK225126, AK299105, AK302742, AK312317, DA399480
    Consensus CDS
    CCDS44823.1
    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1, B4DR50
    Related
    ENSP00000410159, OTTHUMP00000238195, ENST00000420616, OTTHUMT00000398614
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  5. NM_001131026.1NP_001124498.1  peroxisomal biogenesis factor 5 isoform d

    See identical proteins and their annotated locations for NP_001124498.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 6. The encoded isoform (d) has a shorter N-terminus compared to isoform e. Variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AI252784, AK292256
    Consensus CDS
    CCDS44823.1
    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1
    Related
    ENSP00000400647, OTTHUMP00000238192, ENST00000455147, OTTHUMT00000398611
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  6. NM_001300789.1NP_001287718.1  peroxisomal biogenesis factor 5 isoform e

    See identical proteins and their annotated locations for NP_001287718.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (e).
    Source sequence(s)
    AK225126, AK299105, AK303515
    Consensus CDS
    CCDS73433.1
    UniProtKB/TrEMBL
    B4DR50, B4E0T2
    Related
    ENSP00000391601, OTTHUMP00000238353, ENST00000412720, OTTHUMT00000398886
    Conserved Domains (6) summary
    pfam00515
    Location:509542
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:508574
    TPR_11; TPR repeat
    pfam13424
    Location:545609
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:360423
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:326361
    PRY; SPRY-associated domain
    sd00006
    Location:509537
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    7189163..7218574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520796.1XP_011519098.1  

    See identical proteins and their annotated locations for XP_011519098.1

    UniProtKB/Swiss-Prot
    P50542
    Conserved Domains (6) summary
    pfam00515
    Location:503536
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:502568
    TPR_11; TPR repeat
    pfam13424
    Location:539603
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:354417
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:320355
    PRY; SPRY-associated domain
    sd00006
    Location:503531
    TPR; TPR repeat [structural motif]
  2. XM_011520799.1XP_011519101.1  

    See identical proteins and their annotated locations for XP_011519101.1

    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  3. XM_011520800.1XP_011519102.1  

    See identical proteins and their annotated locations for XP_011519102.1

    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  4. XM_011520798.1XP_011519100.1  

    See identical proteins and their annotated locations for XP_011519100.1

    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  5. XM_011520797.1XP_011519099.1  

    See identical proteins and their annotated locations for XP_011519099.1

    UniProtKB/Swiss-Prot
    P50542
    UniProtKB/TrEMBL
    A0A0S2Z4H1
    Conserved Domains (6) summary
    pfam00515
    Location:488521
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:487553
    TPR_11; TPR repeat
    pfam13424
    Location:524588
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:339402
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:305340
    PRY; SPRY-associated domain
    sd00006
    Location:488516
    TPR; TPR repeat [structural motif]
  6. XM_011520795.1XP_011519097.1  

    See identical proteins and their annotated locations for XP_011519097.1

    UniProtKB/Swiss-Prot
    P50542
    Conserved Domains (6) summary
    pfam00515
    Location:503536
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:502568
    TPR_11; TPR repeat
    pfam13424
    Location:539603
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:354417
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:320355
    PRY; SPRY-associated domain
    sd00006
    Location:503531
    TPR; TPR repeat [structural motif]
  7. XM_005253455.1XP_005253512.1  

    See identical proteins and their annotated locations for XP_005253512.1

    Conserved Domains (6) summary
    pfam00515
    Location:472505
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:471537
    TPR_11; TPR repeat
    pfam13424
    Location:508572
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:323386
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:289324
    PRY; SPRY-associated domain
    sd00006
    Location:472500
    TPR; TPR repeat [structural motif]
  8. XM_011520794.1XP_011519096.1  

    See identical proteins and their annotated locations for XP_011519096.1

    Conserved Domains (6) summary
    pfam00515
    Location:524557
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:523589
    TPR_11; TPR repeat
    pfam13424
    Location:560624
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:375438
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:341376
    PRY; SPRY-associated domain
    sd00006
    Location:524552
    TPR; TPR repeat [structural motif]
  9. XM_011520793.1XP_011519095.1  

    See identical proteins and their annotated locations for XP_011519095.1

    Conserved Domains (6) summary
    pfam00515
    Location:524557
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:523589
    TPR_11; TPR repeat
    pfam13424
    Location:560624
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:375438
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:341376
    PRY; SPRY-associated domain
    sd00006
    Location:524552
    TPR; TPR repeat [structural motif]
  10. XM_011520801.1XP_011519103.1  

    Conserved Domains (6) summary
    pfam00515
    Location:487520
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:486552
    TPR_11; TPR repeat
    pfam13424
    Location:523587
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:338401
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:304339
    PRY; SPRY-associated domain
    sd00006
    Location:487515
    TPR; TPR repeat [structural motif]
  11. XM_011520802.1XP_011519104.1  

    Conserved Domains (6) summary
    pfam00515
    Location:405438
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:404470
    TPR_11; TPR repeat
    pfam13424
    Location:441505
    TPR_12; Tetratricopeptide repeat
    pfam13432
    Location:256319
    TPR_16; Tetratricopeptide repeat
    cl02686
    Location:222257
    PRY; SPRY-associated domain
    sd00006
    Location:405433
    TPR; TPR repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    7340679..7369353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)