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O43933 (PEX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisome biogenesis factor 1
Alternative name(s):
Peroxin-1
Peroxisome biogenesis disorder protein 1
Gene names
Name:PEX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1283 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6. Ref.10

Subcellular location

Cytoplasm. Peroxisome membrane. Note: Associated with peroxisomal membranes.

Involvement in disease

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.3

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.4

Sequence similarities

Belongs to the AAA ATPase family.

Sequence caution

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

Ontologies

Keywords
   Biological processPeroxisome biogenesis
Protein transport
Transport
   Cellular componentCytoplasm
Membrane
Peroxisome
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Peroxisome biogenesis disorder
Zellweger syndrome
   DomainRepeat
   LigandATP-binding
Nucleotide-binding
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from mutant phenotype PubMed 16854980. Source: GOC

microtubule-based peroxisome localization

Inferred from mutant phenotype PubMed 16449325. Source: UniProtKB

peroxisome organization

Inferred from mutant phenotype Ref.4. Source: UniProtKB

protein import into peroxisome matrix

Inferred from mutant phenotype Ref.2. Source: UniProtKB

protein targeting to peroxisome

Inferred from mutant phenotype Ref.4PubMed 16854980. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 9588209. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 16854980. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

peroxisomal membrane

Inferred from direct assay Ref.4PubMed 21525035. Source: UniProtKB

peroxisome

Inferred from direct assay PubMed 16854980. Source: UniProtKB

   Molecular_functionATP binding

Inferred from mutant phenotype PubMed 16854980. Source: UniProtKB

ATPase activity, coupled

Inferred from mutant phenotype PubMed 16854980. Source: UniProtKB

protein C-terminus binding

Inferred from physical interaction PubMed 16854980. Source: UniProtKB

protein complex binding

Inferred from direct assay PubMed 16854980. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PEX6Q136082EBI-988601,EBI-988581

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12831283Peroxisome biogenesis factor 1
PRO_0000084604

Regions

Nucleotide binding599 – 6068ATP Potential
Nucleotide binding881 – 8888ATP Potential

Amino acid modifications

Modified residue12091Phosphoserine Ref.15
Cross-link833Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.11

Natural variations

Natural variant5901L → R in PBD-CG1. Ref.18
VAR_058376
Natural variant5931G → R in PBD-CG1. Ref.18
VAR_058377
Natural variant634 – 69057Missing in PBD1A and PBD1B.
VAR_014358
Natural variant6401I → R.
Corresponds to variant rs4559173 [ dbSNP | Ensembl ].
VAR_048113
Natural variant6641L → P in PBD1A and PBD1B. Ref.3
Corresponds to variant rs28939678 [ dbSNP | Ensembl ].
VAR_008876
Natural variant6961I → M. Ref.5 Ref.18
Corresponds to variant rs35996821 [ dbSNP | Ensembl ].
VAR_034376
Natural variant7981R → G in PBD-CG1. Ref.18
VAR_058378
Natural variant8431G → D in PBD1A and PBD1B. Ref.1 Ref.2 Ref.3 Ref.4
VAR_008877
Natural variant9481R → Q. Ref.18
VAR_058379
Natural variant12371A → E in PBD-CG1. Ref.18
VAR_058380

Sequences

Sequence LengthMass (Da)Tools
O43933 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 333CE0B15D2E2017

FASTA1,283142,867
        10         20         30         40         50         60 
MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV WSHQPAFLSW 

        70         80         90        100        110        120 
VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV VSCQQVEVEP LSADDWEILE 

       130        140        150        160        170        180 
LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ TYIFIQIVAL IPAASYGRLE TDTKLLIQPK 

       190        200        210        220        230        240 
TRRAKENTFS KADAEYKKLH SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS 

       250        260        270        280        290        300 
SVASLWTMIG SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA 

       310        320        330        340        350        360 
SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ NVLSPEKEKQ 

       370        380        390        400        410        420 
MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY TKNVEVLHLG KVWIPDDLRK 

       430        440        450        460        470        480 
RLNIEMHAVV RITPVEVTPK IPRSLKLQPR ENLPKDISEE DIKTVFYSWL QQSTTTMLPL 

       490        500        510        520        530        540 
VISEEEFIKL ETKDGLKEFS LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN 

       550        560        570        580        590        600 
SEEIDFILPF LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG 

       610        620        630        640        650        660 
KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE AVWMQPSVVL 

       670        680        690        700        710        720 
LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI SMGSLVALIA TSQSQQSLHP 

       730        740        750        760        770        780 
LLVSAQGVHI FQCVQHIQPP NQEQRCEILC NVIKNKLDCD INKFTDLDLQ HVAKETGGFV 

       790        800        810        820        830        840 
ARDFTVLVDR AIHSRLSRQS ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD 

       850        860        870        880        890        900 
KIGGLHEVRQ ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM 

       910        920        930        940        950        960 
NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG HDNTGVTDRV 

       970        980        990       1000       1010       1020 
VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD KCVYCPPPDQ VSRLEILNVL 

      1030       1040       1050       1060       1070       1080 
SDSLPLADDV DLQHVASVTD SFTGADLKAL LYNAQLEALH GMLLSSGLQD GSSSSDSDLS 

      1090       1100       1110       1120       1130       1140 
LSSMVFLNHS SGSDDSAGDG ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN 

      1150       1160       1170       1180       1190       1200 
GTSSDLSSQC LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI 

      1210       1220       1230       1240       1250       1260 
SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW KNFAELYESF 

      1270       1280 
QNPKRRKNQS GTMFRPGQKV TLA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_000457.1. NM_000466.2.
NP_001269606.1. NM_001282677.1.
NP_001269607.1. NM_001282678.1.
UniGeneHs.164682.

3D structure databases

ProteinModelPortalO43933.
SMRO43933. Positions 13-179.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111212. 4 interactions.
IntActO43933. 3 interactions.
STRING9606.ENSP00000248633.

Protein family/group databases

TCDB3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSiteO43933.

Proteomic databases

PaxDbO43933.
PRIDEO43933.

Protocols and materials databases

DNASU5189.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000248633; ENSP00000248633; ENSG00000127980.
ENST00000428214; ENSP00000394413; ENSG00000127980.
GeneID5189.
KEGGhsa:5189.
UCSCuc003uly.3. human.

Organism-specific databases

CTD5189.
GeneCardsGC07M092116.
HGNCHGNC:8850. PEX1.
HPAHPA020235.
MIM214100. phenotype.
601539. phenotype.
602136. gene.
neXtProtNX_O43933.
Orphanet772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBPA33192.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0464.
HOVERGENHBG008169.
InParanoidO43933.
KOK13338.
OMAHSWEKEK.
PhylomeDBO43933.
TreeFamTF106447.

Gene expression databases

ArrayExpressO43933.
BgeeO43933.
CleanExHS_PEX1.
GenevestigatorO43933.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR009010. Asp_de-COase-like_dom.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR027417. P-loop_NTPase.
IPR015343. Peroxisome_synth_fac_1_a/b.
IPR015342. PEX-1N.
IPR025653. Pex1.
[Graphical view]
PANTHERPTHR23077:SF12. PTHR23077:SF12. 1 hit.
PfamPF00004. AAA. 2 hits.
PF09262. PEX-1N. 1 hit.
PF09263. PEX-2N. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF50692. SSF50692. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEX1.
GenomeRNAi5189.
NextBio20068.
PROO43933.
SOURCESearch...

Entry information

Entry namePEX1_HUMAN
AccessionPrimary (citable) accession number: O43933
Secondary accession number(s): A4D1G3 expand/collapse secondary AC list , A8KA90, Q96S71, Q96S72, Q96S73, Q99994
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM