O43933 (PEX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peroxisome biogenesis factor 1

Alternative name(s):
Peroxin-1
Peroxisome biogenesis disorder protein 1

Gene names

Name:

PEX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1283 AA.
Sequence status	Complete.
Protein existence	Evidence 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.17 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 process	Peroxisome biogenesis Protein transport Transport
Cellular component	Cytoplasm Membrane Peroxisome
Coding sequence diversity	Polymorphism
Disease	Disease mutation Peroxisome biogenesis disorder Zellweger syndrome
Domain	Repeat
Ligand	ATP-binding Nucleotide-binding
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	microtubule-based peroxisome localization Inferred from mutant phenotype PubMed 16449325. Source: UniProtKB protein import into peroxisome matrix Inferred from mutant phenotype Ref.2. Source: UniProtKB
Cellular_component	cytosol Inferred from direct assay PubMed 16854980. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA peroxisomal membrane Inferred from direct assay Ref.4PubMed 21525035. Source: UniProtKB
Molecular_function	ATP binding Inferred from mutant phenotype PubMed 16854980. Source: UniProtKB ATPase activity, coupled Inferred from mutant phenotype 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
PEX6	Q13608	2	EBI-988601,EBI-988581

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1283	1283	Peroxisome biogenesis factor 1		PRO_0000084604
Regions
	Nucleotide binding	599 – 606	8	ATP Potential
	Nucleotide binding	881 – 888	8	ATP Potential
Amino acid modifications
	Modified residue	1209	1	Phosphoserine Ref.14
	Modified residue	1211	1	Phosphoserine By similarity
	Cross-link	833		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.11
Natural variations
	Natural variant	590	1	L → R in PBD-CG1. Ref.17		VAR_058376
	Natural variant	593	1	G → R in PBD-CG1. Ref.17		VAR_058377
	Natural variant	634 – 690	57	Missing in PBD1A and PBD1B.		VAR_014358
	Natural variant	640	1	I → R. Corresponds to variant rs4559173 [ dbSNP | Ensembl ].		VAR_048113
	Natural variant	664	1	L → P in PBD1A and PBD1B. Ref.3 Corresponds to variant rs28939678 [ dbSNP | Ensembl ].		VAR_008876
	Natural variant	696	1	I → M. Ref.5 Ref.17 Corresponds to variant rs35996821 [ dbSNP | Ensembl ].		VAR_034376
	Natural variant	798	1	R → G in PBD-CG1. Ref.17		VAR_058378
	Natural variant	843	1	G → D in PBD1A and PBD1B. Ref.1 Ref.2 Ref.3 Ref.4		VAR_008877
	Natural variant	948	1	R → Q. Ref.17		VAR_058379
	Natural variant	1237	1	A → E in PBD-CG1. Ref.17		VAR_058380

Sequences

	Sequence		Length	Mass (Da)
	O43933 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 333CE0B15D2E2017	FASTA	1,283	142,867
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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. , 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, MASS SPECTROMETRY. 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]	"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.
[14]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[15]	"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].
[16]	"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].
[17]	"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.

Web resources

GeneReviews

dbPEX, PEX Gene Database

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.
IPI	IPI00411291.
RefSeq	NP_000457.1. NM_000466.2.
UniGene	Hs.164682.
3D structure databases
ProteinModelPortal	O43933.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43933. 3 interactions.
STRING	9606.ENSP00000248633.
Protein family/group databases
TCDB	3.A.20.1.1. peroxisomal protein importer (PPI) family.
PTM databases
PhosphoSite	O43933.
Proteomic databases
PaxDb	O43933.
PRIDE	O43933.
Protocols and materials databases
DNASU	5189.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000248633; ENSP00000248633; ENSG00000127980. ENST00000428214; ENSP00000394413; ENSG00000127980.
GeneID	5189.
KEGG	hsa:5189.
UCSC	uc003uly.3. human.
Organism-specific databases
CTD	5189.
GeneCards	GC07M092116.
HGNC	HGNC:8850. PEX1.
HPA	HPA020235.
MIM	214100. phenotype. 601539. phenotype. 602136. gene.
neXtProt	NX_O43933.
Orphanet	772. Infantile Refsum disease. 44. Neonatal adrenoleukodystrophy. 912. Zellweger syndrome.
PharmGKB	PA33192.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0464.
HOVERGEN	HBG008169.
InParanoid	O43933.
KO	K13338.
OMA	HSWEKEK.
PhylomeDB	O43933.
Gene expression databases
ArrayExpress	O43933.
Bgee	O43933.
CleanEx	HS_PEX1.
Genevestigator	O43933.
GermOnline	ENSG00000127980. Homo sapiens.
Family and domain databases
Gene3D	2.40.40.20. 1 hit.
InterPro	IPR003593. AAA+_ATPase. IPR009010. Asp_de-COase-like_dom. IPR003959. ATPase_AAA_core. IPR003960. ATPase_AAA_CS. IPR015343. Peroxisome_synth_fac_1_a/b. IPR015342. PEX-1N. IPR025653. Pex1. [Graphical view]
PANTHER	PTHR23077:SF12. PTHR23077:SF12. 1 hit.
Pfam	PF00004. AAA. 2 hits. PF09262. PEX-1N. 1 hit. PF09263. PEX-2N. 1 hit. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
SUPFAM	SSF50692. Asp_decarb_fold. 1 hit.
PROSITE	PS00674. AAA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5189.
NextBio	20068.
SOURCE	Search...

Entry information

Entry name

PEX1_HUMAN

Accession

Primary (citable) accession number: O43933
Secondary accession number(s): A4D1G3 , A8KA90, Q96S71, Q96S72, Q96S73, Q99994

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	June 1, 1998
Last modified:	May 1, 2013
This is version 117 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.