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Protein

Peroxisome biogenesis factor 1

Gene

PEX1

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

Functioni

Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi599 – 606ATPSequence analysis8
Nucleotide bindingi881 – 888ATPSequence analysis8

GO - Molecular functioni

  • ATPase activity, coupled Source: UniProtKB
  • ATP binding Source: UniProtKB
  • protein-containing complex binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

  • microtubule-based peroxisome localization Source: UniProtKB
  • peroxisome organization Source: UniProtKB
  • protein import into peroxisome matrix Source: UniProtKB
  • protein targeting to peroxisome Source: UniProtKB

Keywordsi

Biological processPeroxisome biogenesis, Protein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import
SIGNORiO43933

Protein family/group databases

TCDBi3.A.20.1.1 the peroxisomal protein importer (ppi) family

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisome biogenesis factor 1
Alternative name(s):
Peroxin-1
Peroxisome biogenesis disorder protein 1
Gene namesi
Name:PEX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000127980.15
HGNCiHGNC:8850 PEX1
MIMi602136 gene
neXtProtiNX_O43933

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 complementation group 1 (PBD-CG1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
See also OMIM:214100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058376590L → R in PBD-CG1. 1 Publication1
Natural variantiVAR_058377593G → R in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750407Ensembl.1
Natural variantiVAR_058378798R → G in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750419Ensembl.1
Natural variantiVAR_0758711008Missing in PBD-CG1. 1 Publication1
Natural variantiVAR_0583801237A → E in PBD-CG1. 1 Publication1
Peroxisome biogenesis disorder 1A (PBD1A)3 Publications
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. PBD1A is an autosomal recessive systemic disorder 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:214100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008877843G → D in PBD1A, PBD1B and PBD-CG1. 5 PublicationsCorresponds to variant dbSNP:rs61750420EnsemblClinVar.1
Peroxisome biogenesis disorder 1B (PBD1B)4 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:601539
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077504998R → Q in PBD1B; found in a compound heterozygote carrying T-989. 1 PublicationCorresponds to variant dbSNP:rs61750429Ensembl.1
Heimler syndrome 1 (HMLR1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.
See also OMIM:234580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074108581R → P in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs370483961EnsemblClinVar.1
Natural variantiVAR_074109705L → W in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs863225084EnsemblClinVar.1

Keywords - Diseasei

Amelogenesis imperfecta, Deafness, Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5189
GeneReviewsiPEX1
MalaCardsiPEX1
MIMi214100 phenotype
234580 phenotype
601539 phenotype
OpenTargetsiENSG00000127980
Orphaneti772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome
PharmGKBiPA33192

Polymorphism and mutation databases

BioMutaiPEX1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000846041 – 1283Peroxisome biogenesis factor 1Add BLAST1283

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei354PhosphoserineCombined sources1
Modified residuei1181PhosphoserineCombined sources1
Modified residuei1209PhosphoserineCombined sources1
Modified residuei1211PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO43933
MaxQBiO43933
PaxDbiO43933
PeptideAtlasiO43933
PRIDEiO43933

PTM databases

iPTMnetiO43933
PhosphoSitePlusiO43933

Expressioni

Gene expression databases

BgeeiENSG00000127980
CleanExiHS_PEX1
ExpressionAtlasiO43933 baseline and differential
GenevisibleiO43933 HS

Organism-specific databases

HPAiHPA020235

Interactioni

Subunit structurei

Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX6Q136082EBI-988601,EBI-988581

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111212, 24 interactors
CORUMiO43933
IntActiO43933, 6 interactors
STRINGi9606.ENSP00000248633

Structurei

3D structure databases

ProteinModelPortaliO43933
SMRiO43933
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AAA ATPase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0735 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00550000075032
HOGENOMiHOG000252959
HOVERGENiHBG008169
InParanoidiO43933
KOiK13338
OMAiVHSWEKE
OrthoDBiEOG091G08H7
PhylomeDBiO43933
TreeFamiTF106447

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR009010 Asp_de-COase-like_dom_sf
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR029067 CDC48_domain_2-like_sf
IPR027417 P-loop_NTPase
IPR015343 PEX-N_a/b
IPR015342 PEX-N_psi_beta-barrel
IPR025653 Pex1
PANTHERiPTHR23077:SF12 PTHR23077:SF12, 2 hits
PfamiView protein in Pfam
PF00004 AAA, 2 hits
PF09262 PEX-1N, 1 hit
PF09263 PEX-2N, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF50692 SSF50692, 1 hit
SSF52540 SSF52540, 2 hits
SSF54585 SSF54585, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43933-1) [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
MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV
60 70 80 90 100
WSHQPAFLSW VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV
110 120 130 140 150
VSCQQVEVEP LSADDWEILE LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ
160 170 180 190 200
TYIFIQIVAL IPAASYGRLE TDTKLLIQPK TRRAKENTFS KADAEYKKLH
210 220 230 240 250
SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS SVASLWTMIG
260 270 280 290 300
SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA
310 320 330 340 350
SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ
360 370 380 390 400
NVLSPEKEKQ MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY
410 420 430 440 450
TKNVEVLHLG KVWIPDDLRK RLNIEMHAVV RITPVEVTPK IPRSLKLQPR
460 470 480 490 500
ENLPKDISEE DIKTVFYSWL QQSTTTMLPL VISEEEFIKL ETKDGLKEFS
510 520 530 540 550
LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN SEEIDFILPF
560 570 580 590 600
LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG
610 620 630 640 650
KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE
660 670 680 690 700
AVWMQPSVVL LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI
710 720 730 740 750
SMGSLVALIA TSQSQQSLHP LLVSAQGVHI FQCVQHIQPP NQEQRCEILC
760 770 780 790 800
NVIKNKLDCD INKFTDLDLQ HVAKETGGFV ARDFTVLVDR AIHSRLSRQS
810 820 830 840 850
ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD KIGGLHEVRQ
860 870 880 890 900
ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM
910 920 930 940 950
NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG
960 970 980 990 1000
HDNTGVTDRV VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD
1010 1020 1030 1040 1050
KCVYCPPPDQ VSRLEILNVL SDSLPLADDV DLQHVASVTD SFTGADLKAL
1060 1070 1080 1090 1100
LYNAQLEALH GMLLSSGLQD GSSSSDSDLS LSSMVFLNHS SGSDDSAGDG
1110 1120 1130 1140 1150
ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN GTSSDLSSQC
1160 1170 1180 1190 1200
LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI
1210 1220 1230 1240 1250
SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW
1260 1270 1280
KNFAELYESF QNPKRRKNQS GTMFRPGQKV TLA
Length:1,283
Mass (Da):142,867
Last modified:June 1, 1998 - v1
Checksum:i333CE0B15D2E2017
GO
Isoform 2 (identifier: O43933-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-413: Missing.

Note: No experimental confirmation available.
Show »
Length:961
Mass (Da):105,999
Checksum:iE768626F405F9534
GO

Sequence cautioni

The sequence AAB46346 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79Q → R in BAG58539 (PubMed:14702039).1
Sequence conflicti897E → G in BAG58539 (PubMed:14702039).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074108581R → P in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs370483961EnsemblClinVar.1
Natural variantiVAR_058376590L → R in PBD-CG1. 1 Publication1
Natural variantiVAR_058377593G → R in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750407Ensembl.1
Natural variantiVAR_014358634 – 690Missing in PBD1A and PBD1B. 1 PublicationAdd BLAST57
Natural variantiVAR_048113640I → R. Corresponds to variant dbSNP:rs4559173Ensembl.1
Natural variantiVAR_008876664L → P in PBD1A and PBD1B. 1 PublicationCorresponds to variant dbSNP:rs121434455EnsemblClinVar.1
Natural variantiVAR_034376696I → M2 PublicationsCorresponds to variant dbSNP:rs35996821EnsemblClinVar.1
Natural variantiVAR_074109705L → W in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs863225084EnsemblClinVar.1
Natural variantiVAR_058378798R → G in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750419Ensembl.1
Natural variantiVAR_008877843G → D in PBD1A, PBD1B and PBD-CG1. 5 PublicationsCorresponds to variant dbSNP:rs61750420EnsemblClinVar.1
Natural variantiVAR_058379948R → Q1 PublicationCorresponds to variant dbSNP:rs535271603EnsemblClinVar.1
Natural variantiVAR_077503989I → T in PBD1B and HMLR1; mild PBD1B phenotype in a compound heterozygote carrying Q-998. 2 PublicationsCorresponds to variant dbSNP:rs61750427EnsemblClinVar.1
Natural variantiVAR_077504998R → Q in PBD1B; found in a compound heterozygote carrying T-989. 1 PublicationCorresponds to variant dbSNP:rs61750429Ensembl.1
Natural variantiVAR_0758711008Missing in PBD-CG1. 1 Publication1
Natural variantiVAR_0583801237A → E in PBD-CG1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05713692 – 413Missing in isoform 2. 1 PublicationAdd BLAST322

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030356 mRNA Translation: AAB99758.1
AF026086 mRNA Translation: AAB87880.1
AB008112 mRNA Translation: BAA85162.1
AB052090 mRNA Translation: BAB59061.1
AB052091 mRNA Translation: BAB59062.1
AB052092 mRNA Translation: BAB59063.1
AK292955 mRNA Translation: BAF85644.1
AK295686 mRNA Translation: BAG58539.1
AC007566 Genomic DNA No translation available.
AC000064 Genomic DNA Translation: AAB46346.1 Sequence problems.
KF458517 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24149.1
CH471091 Genomic DNA Translation: EAW76840.1
BC035575 mRNA Translation: AAH35575.1
CCDSiCCDS5627.1 [O43933-1]
RefSeqiNP_000457.1, NM_000466.2 [O43933-1]
NP_001269606.1, NM_001282677.1
NP_001269607.1, NM_001282678.1
UniGeneiHs.164682

Genome annotation databases

EnsembliENST00000248633; ENSP00000248633; ENSG00000127980 [O43933-1]
ENST00000438045; ENSP00000410438; ENSG00000127980 [O43933-2]
GeneIDi5189
KEGGihsa:5189
UCSCiuc003uly.4 human [O43933-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPEX1_HUMAN
AccessioniPrimary (citable) accession number: O43933
Secondary accession number(s): A4D1G3
, A8KA90, B4DIM7, E9PE75, Q96S71, Q96S72, Q96S73, Q99994
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: May 23, 2018
This is version 168 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

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