PXMP3: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Peroxisome assembly factor 1''' is a [[protein]] that in humans is encoded by the ''PXMP3'' [[gene]].<ref name="pmid1546315">{{cite journal | vauthors = Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y | title = A human gene responsible for Zellweger syndrome that affects peroxisome assembly | journal = Science | volume = 255 | issue = 5048 | pages = 1132–4 |date=Apr 1992 | pmid = 1546315 | pmc =  | doi =10.1126/science.1546315 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5828| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)
| HGNCid = 9717
| Symbol = PXMP3
| AltSymbols =; PAF-1; PAF1; PEX2; PMP3; PMP35; RNF72
| OMIM = 170993
| ECnumber =
| Homologene = 269
| MGIid = 107486
  | GeneAtlas_image1 = PBB_GE_PXMP3_210296_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005777 |text = peroxisome}} {{GNF_GO|id=GO:0005779 |text = integral to peroxisomal membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0001764 |text = neuron migration}} {{GNF_GO|id=GO:0007031 |text = peroxisome organization and biogenesis}} {{GNF_GO|id=GO:0007399 |text = nervous system development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5828
    | Hs_Ensembl = ENSG00000164751
    | Hs_RefseqProtein = NP_000309
    | Hs_RefseqmRNA = NM_000318
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 78057748
    | Hs_GenLoc_end = 78074907
    | Hs_Uniprot = P28328
    | Mm_EntrezGene = 19302
    | Mm_Ensembl = ENSMUSG00000040374
    | Mm_RefseqmRNA = NM_008994
    | Mm_RefseqProtein = NP_033020
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 5543573
    | Mm_GenLoc_end = 5559312
    | Mm_Uniprot = Q3UJB7
  }}
}}
'''Peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)''', also known as '''PXMP3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5828| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =
| summary_text = This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez">{{cite web | title = Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5828| accessdate = }}</ref>
| summary_text = This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of [[Zellweger syndrome]] and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
*{{Cite journal   |vauthors=Distel B, Erdmann R, Gould SJ, etal |title=A unified nomenclature for peroxisome biogenesis factors. |journal=J. Cell Biol. |volume=135 |issue= 1 |pages= 1–3 |year= 1996 |pmid= 8858157 |doi=10.1083/jcb.135.1.1  | pmc=2121017 }}
| citations =
*{{Cite journal  | vauthors=Patarca R, Fletcher MA |title=Ring finger in the peroxisome assembly factor-1. |journal=FEBS Lett. |volume=312 |issue= 1 |pages= 1–2 |year= 1992 |pmid= 1426230 |doi=10.1016/0014-5793(92)81397-5 }}
*{{cite journal | author=Distel B, Erdmann R, Gould SJ, ''et al.'' |title=A unified nomenclature for peroxisome biogenesis factors. |journal=J. Cell Biol. |volume=135 |issue= 1 |pages= 1-3 |year= 1996 |pmid= 8858157 |doi=  }}
*{{Cite journal  | vauthors=Tsukamoto T, Miura S, Fujiki Y |title=Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. |journal=Nature |volume=350 |issue= 6313 |pages= 77–81 |year= 1991 |pmid= 1750930 |doi= 10.1038/350077a0 }}
*{{cite journal  | author=Patarca R, Fletcher MA |title=Ring finger in the peroxisome assembly factor-1. |journal=FEBS Lett. |volume=312 |issue= 1 |pages= 1-2 |year= 1992 |pmid= 1426230 |doi=  }}
*{{Cite journal   |vauthors=Brul S, Westerveld A, Strijland A, etal |title=Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. |journal=J. Clin. Invest. |volume=81 |issue= 6 |pages= 1710–5 |year= 1988 |pmid= 2454948 |doi=10.1172/JCI113510  | pmc=442615  }}
*{{cite journal  | author=Shimozawa N, Tsukamoto T, Suzuki Y, ''et al.'' |title=A human gene responsible for Zellweger syndrome that affects peroxisome assembly. |journal=Science |volume=255 |issue= 5048 |pages= 1132-4 |year= 1992 |pmid= 1546315 |doi= }}
*{{Cite journal   |vauthors=Berteaux-Lecellier V, Picard M, Thompson-Coffe C, etal |title=A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. |journal=Cell |volume=81 |issue= 7 |pages= 1043–51 |year= 1995 |pmid= 7600573 |doi=10.1016/S0092-8674(05)80009-1  }}
*{{cite journal | author=Tsukamoto T, Miura S, Fujiki Y |title=Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. |journal=Nature |volume=350 |issue= 6313 |pages= 77-81 |year= 1991 |pmid= 1750930 |doi= 10.1038/350077a0 }}
*{{Cite journal   |vauthors=Masuno M, Shimozawa N, Suzuki Y, etal |title=Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. |journal=Genomics |volume=20 |issue= 1 |pages= 141–2 |year= 1994 |pmid= 8020947 |doi= 10.1006/geno.1994.1144 }}
*{{cite journal | author=Brul S, Westerveld A, Strijland A, ''et al.'' |title=Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. |journal=J. Clin. Invest. |volume=81 |issue= 6 |pages= 1710-5 |year= 1988 |pmid= 2454948 |doi= }}
*{{Cite journal   |vauthors=Shimozawa N, Suzuki Y, Tomatsu S, etal |title=A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. |journal=Hum. Mutat. |volume=Suppl 1 |issue= |pages= S134–6 |year= 1999 |pmid= 9452066 |doi= 10.1002/humu.1380110145 }}
*{{cite journal | author=Berteaux-Lecellier V, Picard M, Thompson-Coffe C, ''et al.'' |title=A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. |journal=Cell |volume=81 |issue= 7 |pages= 1043-51 |year= 1995 |pmid= 7600573 |doi= }}
*{{Cite journal   |vauthors=Gärtner J, Brosius U, Obie C, etal |title=Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70. |journal=Eur. J. Cell Biol. |volume=76 |issue= 4 |pages= 237–45 |year= 1998 |pmid= 9765053 |doi=  10.1016/s0171-9335(98)80001-0}}
*{{cite journal | author=Masuno M, Shimozawa N, Suzuki Y, ''et al.'' |title=Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. |journal=Genomics |volume=20 |issue= 1 |pages= 141-2 |year= 1994 |pmid= 8020947 |doi= 10.1006/geno.1994.1144 }}
*{{Cite journal   |vauthors=Shimozawa N, Imamura A, Zhang Z, etal |title=Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. |journal=J. Med. Genet. |volume=36 |issue= 10 |pages= 779–81 |year= 1999 |pmid= 10528859 |doi= 10.1136/jmg.36.10.779| pmc=1734244 }}
*{{cite journal | author=Shimozawa N, Suzuki Y, Tomatsu S, ''et al.'' |title=A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. |journal=Hum. Mutat. |volume=Suppl 1 |issue= |pages= S134-6 |year= 1999 |pmid= 9452066 |doi=  }}
*{{Cite journal  | vauthors=Okumoto K, Abe I, Fujiki Y |title=Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25700–10 |year= 2000 |pmid= 10837480 |doi= 10.1074/jbc.M003303200 }}
*{{cite journal | author=Gärtner J, Brosius U, Obie C, ''et al.'' |title=Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70. |journal=Eur. J. Cell Biol. |volume=76 |issue= 4 |pages= 237-45 |year= 1998 |pmid= 9765053 |doi=  }}
*{{Cite journal  | vauthors=Biermanns M, Gärtner J |title=Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 3 |pages= 985–90 |year= 2000 |pmid= 10891359 |doi= 10.1006/bbrc.2000.3039 }}
*{{cite journal  | author=Shimozawa N, Imamura A, Zhang Z, ''et al.'' |title=Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. |journal=J. Med. Genet. |volume=36 |issue= 10 |pages= 779-81 |year= 1999 |pmid= 10528859 |doi= }}
*{{Cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal  | author=Okumoto K, Abe I, Fujiki Y |title=Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. |journal=J. Biol. Chem. |volume=275 |issue= 33 |pages= 25700-10 |year= 2000 |pmid= 10837480 |doi= 10.1074/jbc.M003303200 }}
*{{Cite journal  | vauthors=Biermanns M, von Laar J, Brosius U, Gärtner J |title=The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). |journal=Eur. J. Cell Biol. |volume=82 |issue= 4 |pages= 155–62 |year= 2003 |pmid= 12751901 |doi=10.1078/0171-9335-00310  }}
*{{cite journal | author=Biermanns M, Gärtner J |title=Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 3 |pages= 985-90 |year= 2000 |pmid= 10891359 |doi= 10.1006/bbrc.2000.3039 }}
*{{Cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{Cite journal   |vauthors=Steinberg S, Chen L, Wei L, etal |title=The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. |journal=Mol. Genet. Metab. |volume=83 |issue= 3 |pages= 252–63 |year= 2005 |pmid= 15542397 |doi= 10.1016/j.ymgme.2004.08.008 }}
*{{cite journal | author=Biermanns M, von Laar J, Brosius U, Gärtner J |title=The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). |journal=Eur. J. Cell Biol. |volume=82 |issue= 4 |pages= 155-62 |year= 2003 |pmid= 12751901 |doi=  }}
*{{Cite journal   |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{Cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal | author=Steinberg S, Chen L, Wei L, ''et al.'' |title=The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. |journal=Mol. Genet. Metab. |volume=83 |issue= 3 |pages= 252-63 |year= 2005 |pmid= 15542397 |doi= 10.1016/j.ymgme.2004.08.008 }}
*{{Cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  | pmc=1356129 }}
*{{cite journal | author=Stelzl U, Worm U, Lalowski M, ''et al.'' |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957-68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
{{Refend}}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
 
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
==External links==
}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd  GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]
{{refend}}
* [https://www.ncbi.nlm.nih.gov/omim/170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666,170993,202370,214100,266510,600279,600414,601498,601758,601789,601791,602136,602859,603164,603360,608666 OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum]
 


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Latest revision as of 19:02, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Peroxisome assembly factor 1 is a protein that in humans is encoded by the PXMP3 gene.[1][2]

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.[2]

References

  1. ↑ Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y (Apr 1992). "A human gene responsible for Zellweger syndrome that affects peroxisome assembly". Science. 255 (5048): 1132–4. doi:10.1126/science.1546315. PMID 1546315.
  2. ↑ 2.0 2.1 "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)".

Further reading

External links


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