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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
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

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
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:9719. PEX5.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • Golgi apparatus Source: HPA
  • intracellular Source: GOC
  • membrane Source: UniProtKB
  • peroxisomal matrix Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
  • protein complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti526 – 5261N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 Publications
VAR_007543
Natural varianti600 – 6001S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication
VAR_031328

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi118 – 1181W → A: Strongly reduced interaction with PEX14. 1 Publication
Mutagenesisi122 – 1221F → A: Strongly reduced interaction with PEX14. 1 Publication

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

MIMi202370. phenotype.
214110. phenotype.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA34063.

Polymorphism and mutation databases

BioMutaiPEX5.
DMDMi119364633.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 639639Peroxisomal targeting signal 1 receptorPRO_0000106305Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki11 – 11Glycyl cysteine thioester (Cys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei115 – 1151Phosphoserine1 Publication
Modified residuei153 – 1531Phosphoserine1 Publication
Modified residuei155 – 1551Phosphoserine1 Publication
Modified residuei167 – 1671Phosphoserine1 Publication
Modified residuei279 – 2791Phosphoserine1 Publication

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

MaxQBiP50542.
PaxDbiP50542.
PRIDEiP50542.

PTM databases

PhosphoSiteiP50542.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP50542.
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

WithEntry#Exp.IntActNotes
A8K3Q93EBI-597835,EBI-10174314
ACOT8O147343EBI-597835,EBI-1237371
CAPRIN2Q6IMN63EBI-597835,EBI-6918449
CCDC14Q49A883EBI-597835,EBI-751035
EP400NLH9KV843EBI-597835,EBI-10178184
GDPD5Q8WTR43EBI-597835,EBI-2833203
LDHBP071953EBI-597835,EBI-358748
MKRN3Q6NSB63EBI-597835,EBI-10195599
PEX12O006234EBI-597835,EBI-594836
PEX14O7538113EBI-597835,EBI-594898
PRR13Q9NZ813EBI-597835,EBI-740924
RPL14Q6IPH73EBI-597835,EBI-7813901
S100A6P067033EBI-597835,EBI-352877
TM6SF1Q8N5N83EBI-597835,EBI-10266890
TOM7Q75MR53EBI-597835,EBI-10255903
ZNF772Q68DY93EBI-597835,EBI-10249148

Protein-protein interaction databases

BioGridi111788. 84 interactions.
DIPiDIP-34654N.
IntActiP50542. 32 interactions.
MINTiMINT-241634.
STRINGi9606.ENSP00000407401.

Structurei

Secondary structure

1
639
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi60 – 6910Combined sources
Helixi109 – 12416Combined sources
Helixi318 – 3214Combined sources
Turni331 – 3344Combined sources
Helixi338 – 34710Combined sources
Helixi351 – 36313Combined sources
Helixi369 – 38113Combined sources
Helixi385 – 39814Combined sources
Helixi403 – 41513Combined sources
Helixi419 – 43113Combined sources
Turni434 – 4363Combined sources
Helixi437 – 4393Combined sources
Helixi460 – 48122Combined sources
Helixi488 – 50013Combined sources
Helixi504 – 51714Combined sources
Helixi522 – 53413Combined sources
Helixi538 – 55114Combined sources
Helixi556 – 56914Combined sources
Helixi572 – 58716Combined sources
Beta strandi593 – 5953Combined sources
Helixi601 – 61414Combined sources
Helixi617 – 6193Combined sources
Helixi620 – 6245Combined sources
Helixi628 – 6347Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 335-639.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50542.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati335 – 36834TPR 1Add
BLAST
Repeati369 – 40234TPR 2Add
BLAST
Repeati403 – 43634TPR 3Add
BLAST
Repeati452 – 48534TPR 4Add
BLAST
Repeati488 – 52134TPR 5Add
BLAST
Repeati522 – 55534TPR 6Add
BLAST
Repeati556 – 58934TPR 7Add
BLAST

Sequence similaritiesi

Contains 7 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00390000013941.
HOGENOMiHOG000158146.
HOVERGENiHBG053575.
InParanoidiP50542.
KOiK13342.
OrthoDBiEOG793B77.
PhylomeDBiP50542.
TreeFamiTF315044.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10130. PTHR10130. 1 hit.
PfamiPF00515. TPR_1. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 4 hits.
[Graphical view]
PROSITEiPS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti425 – 4251T → I in AAC50103 (PubMed:7719337).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti526 – 5261N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 Publications
VAR_007543
Natural varianti600 – 6001S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication
VAR_031328

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei45 – 451P → PASEAVSVLEVESPGA in isoform 4. 1 PublicationVSP_043639
Alternative sequencei215 – 25137Missing in isoform 2. 3 PublicationsVSP_021880Add
BLAST
Alternative sequencei283 – 2908Missing in isoform 3. 1 PublicationVSP_024106

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]
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.3. human. [P50542-2]
uc001qsv.3. human. [P50542-3]
uc001qsw.3. human. [P50542-1]
uc010sgc.2. human. [P50542-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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]
UniGeneiHs.567327.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 335-639.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111788. 84 interactions.
DIPiDIP-34654N.
IntActiP50542. 32 interactions.
MINTiMINT-241634.
STRINGi9606.ENSP00000407401.

PTM databases

PhosphoSiteiP50542.

Polymorphism and mutation databases

BioMutaiPEX5.
DMDMi119364633.

Proteomic databases

MaxQBiP50542.
PaxDbiP50542.
PRIDEiP50542.

Protocols and materials databases

DNASUi5830.
Structural Biology KnowledgebaseSearch...

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.3. human. [P50542-2]
uc001qsv.3. human. [P50542-3]
uc001qsw.3. human. [P50542-1]
uc010sgc.2. human. [P50542-4]

Organism-specific databases

CTDi5830.
GeneCardsiGC12P007341.
GeneReviewsiPEX5.
HGNCiHGNC:9719. PEX5.
HPAiHPA039259.
HPA039260.
MIMi202370. phenotype.
214110. phenotype.
600414. gene.
neXtProtiNX_P50542.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA34063.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00390000013941.
HOGENOMiHOG000158146.
HOVERGENiHBG053575.
InParanoidiP50542.
KOiK13342.
OrthoDBiEOG793B77.
PhylomeDBiP50542.
TreeFamiTF315044.

Miscellaneous databases

ChiTaRSiPEX5. human.
EvolutionaryTraceiP50542.
GeneWikiiPEX5.
GenomeRNAii5830.
NextBioi22716.
PROiP50542.
SOURCEiSearch...

Gene expression databases

BgeeiP50542.
CleanExiHS_PEX5.
ExpressionAtlasiP50542. baseline and differential.
GenevisibleiP50542. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10130. PTHR10130. 1 hit.
PfamiPF00515. TPR_1. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 4 hits.
[Graphical view]
PROSITEiPS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders."
    Dodt G., Braverman N., Wong C., Moser A., Moser H.W., Watkins P., Valle D., Gould S.J.
    Nat. Genet. 9:115-125(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN PBD2A, VARIANT PBD2B LYS-526, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders."
    Wiemer E.A.C., Nuttley W.M., Bertolaet B.L., Li X., Francke U., Wheelock M.J., Anne U.K., Johnson K.R., Subramani S.
    J. Cell Biol. 130:51-65(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY.
    Tissue: Liver.
  3. "Identification and characterization of the putative human peroxisomal C-terminal targeting signal import receptor."
    Fransen M., Brees C., Baumgart E., Vanhooren J.C.T., Baes M., Mannaerts G.P., van Veldhoven P.P.
    J. Biol. Chem. 270:7731-7736(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    Tissue: Liver.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
    Tissue: Testis.
  5. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Eye.
  8. "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import."
    Chang C.C., Warren D.S., Sacksteder K.A., Gould S.J.
    J. Cell Biol. 147:761-774(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PEX12.
  9. "The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14."
    Saidowsky J., Dodt G., Kirchberg K., Wegner A., Nastainczyk W., Kunau W.-H., Schliebs W.
    J. Biol. Chem. 276:34524-34529(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PEX14, MUTAGENESIS OF TRP-118 AND PHE-122.
  10. "AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase."
    Miyata N., Okumoto K., Mukai S., Noguchi M., Fujiki Y.
    Traffic 13:168-183(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZFAND6.
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-115; SER-153; SER-155; SER-167 AND SER-279, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  12. "Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5."
    Gatto G.J. Jr., Geisbrecht B.V., Gould S.J., Berg J.M.
    Nat. Struct. Biol. 7:1091-1095(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 272-639 IN COMPLEX WITH TARGETING PEPTIDE.
  13. "Recognition of a functional peroxisome type 1 target by the dynamic import receptor Pex5p."
    Stanley W.A., Filipp F.V., Kursula P., Schueller N., Erdmann R., Schliebs W., Sattler M., Wilmanns M.
    Mol. Cell 24:653-663(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 321-639 IN COMPLEX WITH TARGETING PEPTIDE.
  14. "A previously unobserved conformation for the human Pex5p receptor suggests roles for intrinsic flexibility and rigid domain motions in ligand binding."
    Stanley W.A., Pursiainen N.V., Garman E.F., Juffer A.H., Wilmanns M., Kursula P.
    BMC Struct. Biol. 7:24-24(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.65 ANGSTROMS) OF 315-639, BINDING TO C-TERMINAL TARGETING PEPTIDES.
  15. "Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19."
    Neufeld C., Filipp F.V., Simon B., Neuhaus A., Schueller N., David C., Kooshapur H., Madl T., Erdmann R., Schliebs W., Wilmanns M., Sattler M.
    EMBO J. 28:745-754(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 108-127 IN COMPLEX WITH PEX14.
  16. "Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients."
    Shimozawa N., Zhang Z., Suzuki Y., Imamura A., Tsukamoto T., Osumi T., Fujiki Y., Orii T., Barth P.G., Wanders R.J., Kondo N.
    Biochem. Biophys. Res. Commun. 262:504-508(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PBD2B LYS-526 AND TRP-600, CHARACTERIZATION OF VARIANTS PBD2B LYS-526 AND TRP-600.

Entry informationi

Entry nameiPEX5_HUMAN
AccessioniPrimary (citable) accession number: P50542
Secondary accession number(s): A8K891
, B4DZ45, B7ZAD5, D3DUT8, Q15115, Q15266, Q96FN7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 12, 2006
Last modified: June 24, 2015
This is version 163 of the entry and version 3 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.