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O43933

- PEX1_HUMAN

UniProt

O43933 - PEX1_HUMAN

Protein

Peroxisome biogenesis factor 1

Gene

PEX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi599 – 6068ATPSequence Analysis
    Nucleotide bindingi881 – 8888ATPSequence Analysis

    GO - Molecular functioni

    1. ATPase activity, coupled Source: UniProtKB
    2. ATP binding Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. protein complex binding Source: UniProtKB
    5. protein C-terminus binding Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. microtubule-based peroxisome localization Source: UniProtKB
    3. peroxisome organization Source: UniProtKB
    4. protein import into peroxisome matrix Source: UniProtKB
    5. protein targeting to peroxisome Source: UniProtKB

    Keywords - Biological processi

    Peroxisome biogenesis, Protein transport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    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
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:8850. PEX1.

    Subcellular locationi

    Cytoplasm. Peroxisome membrane
    Note: Associated with peroxisomal membranes.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: UniProtKB
    3. intracellular membrane-bounded organelle Source: HPA
    4. peroxisomal membrane Source: UniProtKB
    5. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: A 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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti590 – 5901L → R in PBD-CG1. 1 Publication
    VAR_058376
    Natural varianti593 – 5931G → R in PBD-CG1. 1 Publication
    VAR_058377
    Natural varianti798 – 7981R → G in PBD-CG1. 1 Publication
    VAR_058378
    Natural varianti1237 – 12371A → E in PBD-CG1. 1 Publication
    VAR_058380
    Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti634 – 69057Missing in PBD1A and PBD1B.
    VAR_014358Add
    BLAST
    Natural varianti664 – 6641L → P in PBD1A and PBD1B. 1 Publication
    Corresponds to variant rs28939678 [ dbSNP | Ensembl ].
    VAR_008876
    Natural varianti843 – 8431G → D in PBD1A and PBD1B. 4 Publications
    VAR_008877
    Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti634 – 69057Missing in PBD1A and PBD1B.
    VAR_014358Add
    BLAST
    Natural varianti664 – 6641L → P in PBD1A and PBD1B. 1 Publication
    Corresponds to variant rs28939678 [ dbSNP | Ensembl ].
    VAR_008876
    Natural varianti843 – 8431G → D in PBD1A and PBD1B. 4 Publications
    VAR_008877

    Keywords - Diseasei

    Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

    Organism-specific databases

    MIMi214100. phenotype.
    601539. phenotype.
    Orphaneti772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBiPA33192.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12831283Peroxisome biogenesis factor 1PRO_0000084604Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki833 – 833Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei1209 – 12091Phosphoserine1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiO43933.
    PaxDbiO43933.
    PRIDEiO43933.

    PTM databases

    PhosphoSiteiO43933.

    Expressioni

    Gene expression databases

    ArrayExpressiO43933.
    BgeeiO43933.
    CleanExiHS_PEX1.
    GenevestigatoriO43933.

    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

    Protein-protein interaction databases

    BioGridi111212. 4 interactions.
    IntActiO43933. 3 interactions.
    STRINGi9606.ENSP00000248633.

    Structurei

    3D structure databases

    ProteinModelPortaliO43933.
    SMRiO43933. Positions 13-179.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AAA ATPase family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0464.
    HOVERGENiHBG008169.
    InParanoidiO43933.
    KOiK13338.
    OMAiVHSWEKE.
    PhylomeDBiO43933.
    TreeFamiTF106447.

    Family and domain databases

    Gene3Di3.10.330.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR009010. Asp_de-COase-like_dom.
    IPR003959. ATPase_AAA_core.
    IPR003960. ATPase_AAA_CS.
    IPR029067. CDC48_domain_2-like.
    IPR027417. P-loop_NTPase.
    IPR015343. Peroxisome_synth_fac_1_a/b.
    IPR015342. PEX-1N.
    IPR025653. Pex1.
    [Graphical view]
    PANTHERiPTHR23077:SF12. PTHR23077:SF12. 1 hit.
    PfamiPF00004. AAA. 2 hits.
    PF09262. PEX-1N. 1 hit.
    PF09263. PEX-2N. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF50692. SSF50692. 1 hit.
    SSF52540. SSF52540. 2 hits.
    SSF54585. SSF54585. 1 hit.
    PROSITEiPS00674. AAA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O43933-1 [UniParc]FASTAAdd to Basket

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    MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV     50
    WSHQPAFLSW VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV 100
    VSCQQVEVEP LSADDWEILE LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ 150
    TYIFIQIVAL IPAASYGRLE TDTKLLIQPK TRRAKENTFS KADAEYKKLH 200
    SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS SVASLWTMIG 250
    SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA 300
    SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ 350
    NVLSPEKEKQ MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY 400
    TKNVEVLHLG KVWIPDDLRK RLNIEMHAVV RITPVEVTPK IPRSLKLQPR 450
    ENLPKDISEE DIKTVFYSWL QQSTTTMLPL VISEEEFIKL ETKDGLKEFS 500
    LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN SEEIDFILPF 550
    LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG 600
    KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE 650
    AVWMQPSVVL LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI 700
    SMGSLVALIA TSQSQQSLHP LLVSAQGVHI FQCVQHIQPP NQEQRCEILC 750
    NVIKNKLDCD INKFTDLDLQ HVAKETGGFV ARDFTVLVDR AIHSRLSRQS 800
    ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD KIGGLHEVRQ 850
    ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM 900
    NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG 950
    HDNTGVTDRV VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD 1000
    KCVYCPPPDQ VSRLEILNVL SDSLPLADDV DLQHVASVTD SFTGADLKAL 1050
    LYNAQLEALH GMLLSSGLQD GSSSSDSDLS LSSMVFLNHS SGSDDSAGDG 1100
    ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN GTSSDLSSQC 1150
    LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI 1200
    SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW 1250
    KNFAELYESF QNPKRRKNQS GTMFRPGQKV TLA 1283
    Length:1,283
    Mass (Da):142,867
    Last modified:June 1, 1998 - v1
    Checksum:i333CE0B15D2E2017
    GO

    Sequence cautioni

    The sequence AAB46346.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti590 – 5901L → R in PBD-CG1. 1 Publication
    VAR_058376
    Natural varianti593 – 5931G → R in PBD-CG1. 1 Publication
    VAR_058377
    Natural varianti634 – 69057Missing in PBD1A and PBD1B.
    VAR_014358Add
    BLAST
    Natural varianti640 – 6401I → R.
    Corresponds to variant rs4559173 [ dbSNP | Ensembl ].
    VAR_048113
    Natural varianti664 – 6641L → P in PBD1A and PBD1B. 1 Publication
    Corresponds to variant rs28939678 [ dbSNP | Ensembl ].
    VAR_008876
    Natural varianti696 – 6961I → M.2 Publications
    Corresponds to variant rs35996821 [ dbSNP | Ensembl ].
    VAR_034376
    Natural varianti798 – 7981R → G in PBD-CG1. 1 Publication
    VAR_058378
    Natural varianti843 – 8431G → D in PBD1A and PBD1B. 4 Publications
    VAR_008877
    Natural varianti948 – 9481R → Q.1 Publication
    VAR_058379
    Natural varianti1237 – 12371A → E in PBD-CG1. 1 Publication
    VAR_058380

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    AC007566 Genomic DNA. No translation available.
    AC000064 Genomic DNA. Translation: AAB46346.1. Sequence problems.
    CH236949 Genomic DNA. Translation: EAL24149.1.
    CH471091 Genomic DNA. Translation: EAW76840.1.
    BC035575 mRNA. Translation: AAH35575.1.
    CCDSiCCDS5627.1.
    RefSeqiNP_000457.1. NM_000466.2.
    NP_001269606.1. NM_001282677.1.
    NP_001269607.1. NM_001282678.1.
    UniGeneiHs.164682.

    Genome annotation databases

    EnsembliENST00000248633; ENSP00000248633; ENSG00000127980.
    ENST00000428214; ENSP00000394413; ENSG00000127980.
    GeneIDi5189.
    KEGGihsa:5189.
    UCSCiuc003uly.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbPEX, PEX Gene Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    AC007566 Genomic DNA. No translation available.
    AC000064 Genomic DNA. Translation: AAB46346.1 . Sequence problems.
    CH236949 Genomic DNA. Translation: EAL24149.1 .
    CH471091 Genomic DNA. Translation: EAW76840.1 .
    BC035575 mRNA. Translation: AAH35575.1 .
    CCDSi CCDS5627.1.
    RefSeqi NP_000457.1. NM_000466.2.
    NP_001269606.1. NM_001282677.1.
    NP_001269607.1. NM_001282678.1.
    UniGenei Hs.164682.

    3D structure databases

    ProteinModelPortali O43933.
    SMRi O43933. Positions 13-179.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111212. 4 interactions.
    IntActi O43933. 3 interactions.
    STRINGi 9606.ENSP00000248633.

    Protein family/group databases

    TCDBi 3.A.20.1.1. the peroxisomal protein importer (ppi) family.

    PTM databases

    PhosphoSitei O43933.

    Proteomic databases

    MaxQBi O43933.
    PaxDbi O43933.
    PRIDEi O43933.

    Protocols and materials databases

    DNASUi 5189.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000248633 ; ENSP00000248633 ; ENSG00000127980 .
    ENST00000428214 ; ENSP00000394413 ; ENSG00000127980 .
    GeneIDi 5189.
    KEGGi hsa:5189.
    UCSCi uc003uly.3. human.

    Organism-specific databases

    CTDi 5189.
    GeneCardsi GC07M092116.
    GeneReviewsi PEX1.
    HGNCi HGNC:8850. PEX1.
    HPAi HPA020235.
    MIMi 214100. phenotype.
    601539. phenotype.
    602136. gene.
    neXtProti NX_O43933.
    Orphaneti 772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBi PA33192.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0464.
    HOVERGENi HBG008169.
    InParanoidi O43933.
    KOi K13338.
    OMAi VHSWEKE.
    PhylomeDBi O43933.
    TreeFami TF106447.

    Miscellaneous databases

    GeneWikii PEX1.
    GenomeRNAii 5189.
    NextBioi 20068.
    PROi O43933.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43933.
    Bgeei O43933.
    CleanExi HS_PEX1.
    Genevestigatori O43933.

    Family and domain databases

    Gene3Di 3.10.330.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR009010. Asp_de-COase-like_dom.
    IPR003959. ATPase_AAA_core.
    IPR003960. ATPase_AAA_CS.
    IPR029067. CDC48_domain_2-like.
    IPR027417. P-loop_NTPase.
    IPR015343. Peroxisome_synth_fac_1_a/b.
    IPR015342. PEX-1N.
    IPR025653. Pex1.
    [Graphical view ]
    PANTHERi PTHR23077:SF12. PTHR23077:SF12. 1 hit.
    Pfami PF00004. AAA. 2 hits.
    PF09262. PEX-1N. 1 hit.
    PF09263. PEX-2N. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF50692. SSF50692. 1 hit.
    SSF52540. SSF52540. 2 hits.
    SSF54585. SSF54585. 1 hit.
    PROSITEi PS00674. AAA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders."
      Portsteffen H., Beyer A., Becker E., Epplen C., Pawlak A., Kunau W.-H., Dodt G.
      Nat. Genet. 17:449-452(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PBD1A/PBD1B ASP-843.
    2. "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders."
      Reuber B.E., Germain-Lee E., Collins C.S., Morrell J.C., Ameritunga R., Moser H.W., Valle D., Gould S.J.
      Nat. Genet. 17:445-448(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT PBD1A ASP-843, VARIANT PBD1B ASP-843.
    3. "Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I."
      Tamura S., Okumoto K., Toyama R., Shimozawa N., Tsukamoto T., Suzuki Y., Osumi T., Kondo N., Fujiki Y.
      Proc. Natl. Acad. Sci. U.S.A. 95:4350-4355(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PBD1A 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843, VARIANTS PBD1B 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843.
    4. "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction."
      Tamura S., Matsumoto N., Imamura A., Shimozawa N., Suzuki Y., Kondo N., Fujiki Y.
      Biochem. J. 357:417-426(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PBD1B ASP-843.
    5. "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], VARIANT MET-696.
      Tissue: Trachea.
    6. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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].
      Tissue: Lymph.
    10. "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes."
      Matsumoto N., Tamura S., Fujiki Y.
      Nat. Cell Biol. 5:454-460(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX26 AND PEX6.
    11. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
      Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
      Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-833.
      Tissue: Mammary cancer.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1209, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders."
      Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G.
      Hum. Mutat. 30:E467-E480(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PBD-CG1 ARG-590; ARG-593; GLY-798 AND GLU-1237, VARIANTS MET-696 AND GLN-948.

    Entry informationi

    Entry nameiPEX1_HUMAN
    AccessioniPrimary (citable) accession number: O43933
    Secondary accession number(s): A4D1G3
    , A8KA90, Q96S71, Q96S72, Q96S73, Q99994
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 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

    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

    External Data

    Dasty 3