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Protein

Peroxisomal targeting signal 1 receptor

Gene

PEX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.3 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • peroxisome matrix targeting signal-1 binding Source: UniProtKB
  • peroxisome targeting sequence binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • small GTPase binding Source: UniProtKB

GO - Biological processi

  • negative regulation of protein homotetramerization Source: UniProtKB
  • protein import into peroxisome matrix Source: UniProtKB
  • protein import into peroxisome matrix, docking Source: UniProtKB
  • protein import into peroxisome matrix, translocation Source: UniProtKB
  • protein import into peroxisome membrane Source: UniProtKB
  • protein targeting to peroxisome Source: UniProtKB
  • protein tetramerization Source: UniProtKB
  • protein ubiquitination Source: Reactome

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8866654. E3 ubiquitin ligases ubiquitinate target proteins.
SIGNORiP50542.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal targeting signal 1 receptor
Short name:
PTS1 receptor
Short name:
PTS1R
Alternative name(s):
PTS1-BP
Peroxin-5
Peroxisomal C-terminal targeting signal import receptor
Peroxisome receptor 1
Gene namesi
Name:PEX5
Synonyms:PXR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139197.10.
HGNCiHGNC:9719. PEX5.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder 2A (PBD2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
See also OMIM:214110
Peroxisome biogenesis disorder 2B (PBD2B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
See also OMIM:202370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138Ensembl.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1
Rhizomelic chondrodysplasia punctata 5 (RCDP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
See also OMIM:616716

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi118W → A: Strongly reduced interaction with PEX14. 1 Publication1
Mutagenesisi122F → A: Strongly reduced interaction with PEX14. 1 Publication1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome

Organism-specific databases

DisGeNETi5830.
GeneReviewsiPEX5.
MalaCardsiPEX5.
MIMi202370. phenotype.
214110. phenotype.
616716. phenotype.
OpenTargetsiENSG00000139197.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA34063.

Polymorphism and mutation databases

BioMutaiPEX5.
DMDMi119364633.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063051 – 639Peroxisomal targeting signal 1 receptorAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki11Glycyl cysteine thioester (Cys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei115PhosphoserineCombined sources1
Modified residuei153PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1

Post-translational modificationi

Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling.By similarity

Keywords - PTMi

Phosphoprotein, Thioester bond, Ubl conjugation

Proteomic databases

EPDiP50542.
MaxQBiP50542.
PaxDbiP50542.
PeptideAtlasiP50542.
PRIDEiP50542.

PTM databases

iPTMnetiP50542.
PhosphoSitePlusiP50542.

Expressioni

Tissue specificityi

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.3 Publications

Gene expression databases

BgeeiENSG00000139197.
CleanExiHS_PEX5.
ExpressionAtlasiP50542. baseline and differential.
GenevisibleiP50542. HS.

Organism-specific databases

HPAiHPA039259.
HPA039260.

Interactioni

Subunit structurei

Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked ubiquitinated) with ZFAND6.By similarity6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • small GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111788. 89 interactors.
DIPiDIP-34654N.
ELMiP50542.
IntActiP50542. 48 interactors.
MINTiMINT-241634.
STRINGi9606.ENSP00000407401.

Structurei

Secondary structure

1639
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi60 – 69Combined sources10
Helixi109 – 124Combined sources16
Helixi318 – 321Combined sources4
Turni331 – 334Combined sources4
Helixi338 – 347Combined sources10
Helixi351 – 363Combined sources13
Helixi369 – 381Combined sources13
Helixi385 – 398Combined sources14
Helixi403 – 415Combined sources13
Helixi419 – 431Combined sources13
Turni434 – 436Combined sources3
Helixi437 – 439Combined sources3
Helixi460 – 481Combined sources22
Helixi488 – 500Combined sources13
Helixi504 – 517Combined sources14
Helixi522 – 534Combined sources13
Helixi538 – 551Combined sources14
Helixi556 – 569Combined sources14
Helixi572 – 587Combined sources16
Beta strandi593 – 595Combined sources3
Helixi601 – 614Combined sources14
Helixi617 – 619Combined sources3
Helixi620 – 624Combined sources5
Helixi628 – 634Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FCHX-ray2.20A/B272-639[»]
2C0LX-ray2.30A335-639[»]
2C0MX-ray2.50A/B/C/F321-639[»]
2J9QX-ray2.65A/B315-639[»]
2W84NMR-B108-127[»]
3R9AX-ray2.35B/D315-639[»]
4BXUNMR-B57-71[»]
4KXKX-ray2.90B/D315-639[»]
4KYOX-ray2.20B/D315-639[»]
DisProtiDP00472.
ProteinModelPortaliP50542.
SMRiP50542.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50542.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati335 – 368TPR 1Add BLAST34
Repeati369 – 402TPR 2Add BLAST34
Repeati403 – 436TPR 3Add BLAST34
Repeati452 – 485TPR 4Add BLAST34
Repeati488 – 521TPR 5Add BLAST34
Repeati522 – 555TPR 6Add BLAST34
Repeati556 – 589TPR 7Add BLAST34

Sequence similaritiesi

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1125. Eukaryota.
ENOG410XQ6Q. LUCA.
GeneTreeiENSGT00390000013941.
HOGENOMiHOG000158146.
HOVERGENiHBG053575.
InParanoidiP50542.
KOiK13342.
PhylomeDBiP50542.
TreeFamiTF315044.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiView protein in InterPro
IPR024113. PTS1R.
IPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom_sf.
IPR019734. TPR_repeat.
PANTHERiPTHR10130. PTHR10130. 1 hit.
PTHR10130:SF2. PTHR10130:SF2. 1 hit.
PfamiView protein in Pfam
PF13181. TPR_8. 1 hit.
SMARTiView protein in SMART
SM00028. TPR. 4 hits.
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiView protein in PROSITE
PS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P50542-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA
60 70 80 90 100
SKPLGVASED ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR
110 120 130 140 150
QAPQRAPGVA DLALSENWAQ EFLAAGDAVD VTQDYNETDW SQEFISEVTD
160 170 180 190 200
PLSVSPARWA EEYLEQSEEK LWLGEPEGTA TDRWYDEYHP EEDLQHTASD
210 220 230 240 250
FVAKVDDPKL ANSEFLKFVR QIGEGQVSLE SGAGSGRAQA EQWAAEFIQQ
260 270 280 290 300
QGTSDAWVDQ FTRPVNTSAL DMEFERAKSA IESDVDFWDK LQAELEEMAK
310 320 330 340 350
RDAEAHPWLS DYDDLTSATY DKGYQFEEEN PLRDHPQPFE EGLRRLQEGD
360 370 380 390 400
LPNAVLLFEA AVQQDPKHME AWQYLGTTQA ENEQELLAIS ALRRCLELKP
410 420 430 440 450
DNQTALMALA VSFTNESLQR QACETLRDWL RYTPAYAHLV TPAEEGAGGA
460 470 480 490 500
GLGPSKRILG SLLSDSLFLE VKELFLAAVR LDPTSIDPDV QCGLGVLFNL
510 520 530 540 550
SGEYDKAVDC FTAALSVRPN DYLLWNKLGA TLANGNQSEE AVAAYRRALE
560 570 580 590 600
LQPGYIRSRY NLGISCINLG AHREAVEHFL EALNMQRKSR GPRGEGGAMS
610 620 630
ENIWSTLRLA LSMLGQSDAY GAADARDLST LLTMFGLPQ
Length:639
Mass (Da):70,865
Last modified:December 12, 2006 - v3
Checksum:i9D6951F58AED31AC
GO
Isoform 2 (identifier: P50542-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-251: Missing.

Show »
Length:602
Mass (Da):66,830
Checksum:iEA4E6FAAF5E11C55
GO
Isoform 3 (identifier: P50542-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-290: Missing.

Show »
Length:631
Mass (Da):69,872
Checksum:i9F3B705D888C484B
GO
Isoform 4 (identifier: P50542-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-45: P → PASEAVSVLEVESPGA

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):72,291
Checksum:iCF2055CBD6902BFE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti425T → I in AAC50103 (PubMed:7719337).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138Ensembl.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04363945P → PASEAVSVLEVESPGA in isoform 4. 1 Publication1
Alternative sequenceiVSP_021880215 – 251Missing in isoform 2. 3 PublicationsAdd BLAST37
Alternative sequenceiVSP_024106283 – 290Missing in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19721 mRNA. Translation: AAC50103.1.
Z48054 mRNA. Translation: CAA88131.1.
X84899 mRNA. Translation: CAA59324.1.
AK292256 mRNA. Translation: BAF84945.1.
AK302742 mRNA. Translation: BAG63957.1.
AK316250 mRNA. Translation: BAH14621.1.
AC018653 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88671.1.
CH471116 Genomic DNA. Translation: EAW88674.1.
CH471116 Genomic DNA. Translation: EAW88672.1.
BC010621 mRNA. Translation: AAH10621.1.
CCDSiCCDS44822.1. [P50542-4]
CCDS44823.1. [P50542-1]
CCDS44824.1. [P50542-2]
CCDS8576.1. [P50542-3]
PIRiA56126.
RefSeqiNP_000310.2. NM_000319.4. [P50542-3]
NP_001124495.1. NM_001131023.1. [P50542-4]
NP_001124496.1. NM_001131024.1. [P50542-2]
NP_001124497.1. NM_001131025.1. [P50542-1]
NP_001124498.1. NM_001131026.1. [P50542-1]
XP_011519097.1. XM_011520795.1. [P50542-4]
XP_011519099.1. XM_011520797.1.
XP_011519100.1. XM_011520798.1.
XP_011519101.1. XM_011520799.2.
XP_011519102.1. XM_011520800.1.
XP_016875237.1. XM_017019748.1. [P50542-4]
XP_016875238.1. XM_017019749.1. [P50542-1]
XP_016875239.1. XM_017019750.1. [P50542-3]
XP_016875241.1. XM_017019752.1.
XP_016875242.1. XM_017019753.1.
XP_016875243.1. XM_017019754.1.
XP_016875244.1. XM_017019755.1.
UniGeneiHs.567327.

Genome annotation databases

EnsembliENST00000266563; ENSP00000266563; ENSG00000139197. [P50542-2]
ENST00000266564; ENSP00000266564; ENSG00000139197. [P50542-3]
ENST00000420616; ENSP00000410159; ENSG00000139197. [P50542-1]
ENST00000434354; ENSP00000407401; ENSG00000139197. [P50542-4]
ENST00000455147; ENSP00000400647; ENSG00000139197. [P50542-1]
GeneIDi5830.
KEGGihsa:5830.
UCSCiuc001qsu.4. human. [P50542-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPEX5_HUMAN
AccessioniPrimary (citable) accession number: P50542
Secondary accession number(s): A8K891
, B4DZ45, B7ZAD5, D3DUT8, Q15115, Q15266, Q96FN7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 12, 2006
Last modified: November 22, 2017
This is version 187 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families