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Peroxisome biogenesis factor 2 (35 kDa peroxisomal membrane protein) (Peroxin-2) (Peroxisomal membrane protein 3) (Peroxisome assembly factor 1) (PAF-1) (RING finger protein 72)

 PEX2_HUMAN              Reviewed;         305 AA.
P28328; Q567S6; Q9BW41;
01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
15-DEC-2009, sequence version 2.
27-SEP-2017, entry version 173.
RecName: Full=Peroxisome biogenesis factor 2;
AltName: Full=35 kDa peroxisomal membrane protein;
AltName: Full=Peroxin-2;
AltName: Full=Peroxisomal membrane protein 3;
AltName: Full=Peroxisome assembly factor 1;
Short=PAF-1;
AltName: Full=RING finger protein 72;
Name=PEX2; Synonyms=PAF1, PMP3, PMP35, PXMP3, RNF72;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-184, AND INVOLVEMENT IN PBD5A.
TISSUE=Liver;
PubMed=1546315; DOI=10.1126/science.1546315;
Shimozawa N., Tsukamoto T., Suzuki Y., Orii T., Shirayoshi Y.,
Mori T., Fujiki Y.;
"A human gene responsible for Zellweger syndrome that affects
peroxisome assembly.";
Science 255:1132-1134(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ARG-184.
PubMed=10891359; DOI=10.1006/bbrc.2000.3039;
Biermanns M., Gaertner J.;
"Genomic organization and characterization of human PEX2 encoding a
35-kDa peroxisomal membrane protein.";
Biochem. Biophys. Res. Commun. 273:985-990(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ARG-184.
TISSUE=Liver;
Gartner J.;
Submitted (FEB-1992) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-184.
TISSUE=Kidney, and Liver;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
DOMAIN RING FINGER.
PubMed=1426230; DOI=10.1016/0014-5793(92)81397-5;
Patarca R., Fletcher M.A.;
"Ring finger in the peroxisome assembly factor-1.";
FEBS Lett. 312:1-2(1992).
[7]
ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-84, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19608861; DOI=10.1126/science.1175371;
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
Walther T.C., Olsen J.V., Mann M.;
"Lysine acetylation targets protein complexes and co-regulates major
cellular functions.";
Science 325:834-840(2009).
[8]
VARIANT PBD5B LYS-55.
PubMed=10528859; DOI=10.1136/jmg.36.10.779;
Shimozawa N., Imamura A., Zhang Z., Suzuki Y., Orii T., Tsukamoto T.,
Osumi T., Fujiki Y., Wanders R.J.A., Besley G., Kondo N.;
"Defective PEX gene products correlate with the protein import,
biochemical abnormalities, and phenotypic heterogeneity in peroxisome
biogenesis disorders.";
J. Med. Genet. 36:779-781(1999).
-!- FUNCTION: Somewhat implicated in the biogenesis of peroxisomes.
-!- INTERACTION:
P40855:PEX19; NbExp=3; IntAct=EBI-713978, EBI-594747;
-!- SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane
protein.
-!- DISEASE: Peroxisome biogenesis disorder complementation group 5
(PBD-CG5) [MIM:614866]: 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.
-!- DISEASE: Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866]: A
fatal peroxisome biogenesis disorder belonging to the Zellweger
disease spectrum and clinically characterized 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.
{ECO:0000269|PubMed:1546315}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]: 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.
{ECO:0000269|PubMed:10528859}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the pex2/pex10/pex12 family. {ECO:0000305}.
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EMBL; M86852; AAC12785.1; -; mRNA.
EMBL; AF133826; AAF97687.1; -; Genomic_DNA.
EMBL; M85038; AAA60141.1; -; mRNA.
EMBL; AC090810; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC000661; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; BC005375; AAH05375.1; -; mRNA.
EMBL; BC093043; AAH93043.1; -; mRNA.
CCDS; CCDS6221.1; -.
PIR; A41812; A41812.
RefSeq; NP_000309.1; NM_000318.2.
RefSeq; NP_001073336.1; NM_001079867.1.
RefSeq; NP_001165557.1; NM_001172086.1.
RefSeq; NP_001165558.1; NM_001172087.1.
UniGene; Hs.437966; -.
ProteinModelPortal; P28328; -.
BioGrid; 111786; 6.
IntAct; P28328; 8.
MINT; MINT-1377091; -.
STRING; 9606.ENSP00000349543; -.
TCDB; 3.A.20.1.1; the peroxisomal protein importer (ppi) family.
iPTMnet; P28328; -.
PhosphoSitePlus; P28328; -.
BioMuta; PEX2; -.
DMDM; 281185478; -.
EPD; P28328; -.
MaxQB; P28328; -.
PaxDb; P28328; -.
PeptideAtlas; P28328; -.
PRIDE; P28328; -.
DNASU; 5828; -.
Ensembl; ENST00000357039; ENSP00000349543; ENSG00000164751.
Ensembl; ENST00000520103; ENSP00000428590; ENSG00000164751.
Ensembl; ENST00000522527; ENSP00000428638; ENSG00000164751.
GeneID; 5828; -.
KEGG; hsa:5828; -.
UCSC; uc003yax.4; human.
CTD; 5828; -.
DisGeNET; 5828; -.
EuPathDB; HostDB:ENSG00000164751.14; -.
GeneCards; PEX2; -.
GeneReviews; PEX2; -.
HGNC; HGNC:9717; PEX2.
HPA; HPA010983; -.
HPA; HPA011410; -.
HPA; HPA027729; -.
MalaCards; PEX2; -.
MIM; 170993; gene.
MIM; 614866; phenotype.
MIM; 614867; phenotype.
neXtProt; NX_P28328; -.
OpenTargets; ENSG00000164751; -.
Orphanet; 772; Infantile Refsum disease.
Orphanet; 44; Neonatal adrenoleukodystrophy.
Orphanet; 912; Zellweger syndrome.
PharmGKB; PA34060; -.
eggNOG; KOG2879; Eukaryota.
eggNOG; ENOG41107WE; LUCA.
GeneTree; ENSGT00390000001846; -.
HOGENOM; HOG000294074; -.
HOVERGEN; HBG000416; -.
InParanoid; P28328; -.
KO; K06664; -.
OMA; EYMNREL; -.
OrthoDB; EOG091G0I1O; -.
PhylomeDB; P28328; -.
TreeFam; TF105312; -.
Reactome; R-HSA-8866654; E3 ubiquitin ligases ubiquitinate target proteins.
SIGNOR; P28328; -.
ChiTaRS; PEX2; human.
GeneWiki; PXMP3; -.
GenomeRNAi; 5828; -.
PRO; PR:P28328; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000164751; -.
CleanEx; HS_PAF1; -.
CleanEx; HS_PXMP3; -.
ExpressionAtlas; P28328; baseline and differential.
Genevisible; P28328; HS.
GO; GO:0016593; C:Cdc73/Paf1 complex; IDA:UniProtKB.
GO; GO:0005779; C:integral component of peroxisomal membrane; IMP:UniProtKB.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0005778; C:peroxisomal membrane; IDA:UniProtKB.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0061630; F:ubiquitin protein ligase activity; EXP:Reactome.
GO; GO:0006635; P:fatty acid beta-oxidation; IMP:UniProtKB.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IMP:UniProtKB.
GO; GO:0048147; P:negative regulation of fibroblast proliferation; IMP:UniProtKB.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IMP:UniProtKB.
GO; GO:0007031; P:peroxisome organization; IMP:UniProtKB.
GO; GO:0031648; P:protein destabilization; IMP:UniProtKB.
GO; GO:0016558; P:protein import into peroxisome matrix; IMP:UniProtKB.
GO; GO:0016567; P:protein ubiquitination; TAS:Reactome.
GO; GO:0000038; P:very long-chain fatty acid metabolic process; IMP:UniProtKB.
Gene3D; 3.30.40.10; -; 1.
InterPro; IPR006845; Pex_N.
InterPro; IPR018957; Znf_C3HC4_RING-type.
InterPro; IPR001841; Znf_RING.
InterPro; IPR013083; Znf_RING/FYVE/PHD.
InterPro; IPR017907; Znf_RING_CS.
Pfam; PF04757; Pex2_Pex12; 1.
Pfam; PF00097; zf-C3HC4; 1.
SMART; SM00184; RING; 1.
PROSITE; PS00518; ZF_RING_1; 1.
PROSITE; PS50089; ZF_RING_2; 1.
1: Evidence at protein level;
Acetylation; Complete proteome; Disease mutation; Membrane;
Metal-binding; Peroxisome; Peroxisome biogenesis;
Peroxisome biogenesis disorder; Reference proteome; Transmembrane;
Transmembrane helix; Zellweger syndrome; Zinc; Zinc-finger.
CHAIN 1 305 Peroxisome biogenesis factor 2.
/FTId=PRO_0000056369.
TRANSMEM 140 159 Helical. {ECO:0000255}.
TRANSMEM 195 213 Helical. {ECO:0000255}.
ZN_FING 244 284 RING-type. {ECO:0000255|PROSITE-
ProRule:PRU00175}.
MOD_RES 84 84 N6-acetyllysine.
{ECO:0000244|PubMed:19608861}.
VARIANT 55 55 E -> K (in PBD5B; infantile Refsum
disease; dbSNP:rs61752119).
{ECO:0000269|PubMed:10528859}.
/FTId=VAR_011389.
VARIANT 184 184 C -> R (in dbSNP:rs10087163).
{ECO:0000269|PubMed:10891359,
ECO:0000269|PubMed:1546315,
ECO:0000269|PubMed:15489334,
ECO:0000269|Ref.3}.
/FTId=VAR_060784.
SEQUENCE 305 AA; 34843 MW; F624F93C613FF2DB CRC64;
MASRKENAKS ANRVLRISQL DALELNKALE QLVWSQFTQC FHGFKPGLLA RFEPEVKACL
WVFLWRFTIY SKNATVGQSV LNIKYKNDFS PNLRYQPPSK NQKIWYAVCT IGGRWLEERC
YDLFRNHHLA SFGKVKQCVN FVIGLLKLGG LINFLIFLQR GKFATLTERL LGIHSVFCKP
QNICEVGFEY MNRELLWHGF AEFLIFLLPL INVQKLKAKL SSWCIPLTGA PNSDNTLATS
GKECALCGEW PTMPHTIGCE HIFCYFCAKS SFLFDVYFTC PKCGTEVHSL QPLKSGIEMS
EVNAL


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