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O43933

- PEX1_HUMAN

UniProt

O43933 - PEX1_HUMAN

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Protein

Peroxisome biogenesis factor 1

Gene

PEX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)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 complex binding Source: UniProtKB
  4. 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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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. 1 Publication
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

BgeeiO43933.
CleanExiHS_PEX1.
ExpressionAtlasiO43933. baseline and differential.
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. 8 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.
GeneTreeiENSGT00550000075032.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791Q → R in BAG58539. (PubMed:14702039)
Sequence conflicti897 – 8971E → G in BAG58539. (PubMed:14702039)

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. 1 Publication
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei92 – 413322Missing in isoform 2. 1 PublicationVSP_057136Add
BLAST

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.
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

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

dbPEX, PEX Gene Database

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 .
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. 8 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.
GeneTreei ENSGT00550000075032.
HOVERGENi HBG008169.
InParanoidi O43933.
KOi K13338.
OMAi VHSWEKE.
PhylomeDBi O43933.
TreeFami TF106447.

Miscellaneous databases

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

Gene expression databases

Bgeei O43933.
CleanExi HS_PEX1.
ExpressionAtlasi O43933. baseline and differential.
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

« Hide 'large scale' publications
  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] (ISOFORM 1), 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] (ISOFORM 1), 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] (ISOFORM 1), 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] (ISOFORM 1), 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] (ISOFORMS 1 AND 2), VARIANT MET-696.
    Tissue: Hippocampus and 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] (ISOFORM 1).
    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, B4DIM7, E9PE75, Q96S71, Q96S72, Q96S73, Q99994
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: November 26, 2014
This is version 133 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