PXMP4_HUMAN
ID PXMP4_HUMAN Reviewed; 212 AA.
AC Q9Y6I8; A2A2I7; Q9H0T4;
DT 28-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Peroxisomal membrane protein 4;
DE AltName: Full=24 kDa peroxisomal intrinsic membrane protein;
GN Name=PXMP4; Synonyms=PMP24;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND CHARACTERIZATION.
RC TISSUE=Liver;
RX PubMed=10366717; DOI=10.1016/s0167-4781(99)00061-5;
RA Reguenga C., Oliveira M.E.M., Gouveia A.M.M., Eckerskorn C., Sa-Miranda C.,
RA Azevedo J.E.;
RT "Identification of a 24 kDa intrinsic membrane protein from mammalian
RT peroxisomes.";
RL Biochim. Biophys. Acta 1445:337-341(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-204.
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-204.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH PEX19.
RX PubMed=10704444; DOI=10.1083/jcb.148.5.931;
RA Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J.;
RT "PEX19 binds multiple peroxisomal membrane proteins, is predominantly
RT cytoplasmic, and is required for peroxisome membrane synthesis.";
RL J. Cell Biol. 148:931-944(2000).
RN [7]
RP INTERACTION WITH PEX19.
RX PubMed=14709540; DOI=10.1083/jcb.200304111;
RA Jones J.M., Morrell J.C., Gould S.J.;
RT "PEX19 is a predominantly cytosolic chaperone and import receptor for class
RT 1 peroxisomal membrane proteins.";
RL J. Cell Biol. 164:57-67(2004).
RN [8]
RP TISSUE SPECIFICITY, HYPERMETHYLATION, AND INVOLVEMENT IN PROSTATE CANCER.
RX PubMed=14712230; DOI=10.1038/sj.onc.1207076;
RA Wu M., Ho S.M.;
RT "PMP24, a gene identified by MSRF, undergoes DNA hypermethylation-
RT associated gene silencing during cancer progression in an LNCaP model.";
RL Oncogene 23:250-259(2004).
RN [9]
RP HYPERMETHYLATION, AND INVOLVEMENT IN PROSTATE CANCER.
RX PubMed=20054818; DOI=10.1002/pros.21109;
RA Zhang X., Wu M., Xiao H., Lee M.T., Levin L., Leung Y.K., Ho S.M.;
RT "Methylation of a single intronic CpG mediates expression silencing of the
RT PMP24 gene in prostate cancer.";
RL Prostate 70:765-776(2010).
CC -!- SUBUNIT: Interacts with PEX19. {ECO:0000269|PubMed:10704444,
CC ECO:0000269|PubMed:14709540}.
CC -!- SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250}; Multi-pass
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y6I8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y6I8-2; Sequence=VSP_041217, VSP_041218;
CC -!- TISSUE SPECIFICITY: Expressed in normal prostate epithelial cells, and
CC androgen-sensitive prostate adenocarcinoma cells. Not expressed in
CC androgen-insensitive prostate adenocarcinoma cells.
CC {ECO:0000269|PubMed:14712230}.
CC -!- MISCELLANEOUS: Hypermethylation-mediated silencing of PXMP4 may be
CC involved in prostate carcinogenesis. PXMP4 undergoes hypermethylation
CC and silencing during the transition of prostate adenocarcinoma cells
CC from androgen dependence to androgen independence.
CC -!- SIMILARITY: Belongs to the peroxisomal membrane protein PXMP2/4 family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION: [Isoform 2]:
CC Sequence=AK297018; Type=Miscellaneous discrepancy; Note=a conflict in position 70.; Evidence={ECO:0000305};
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DR EMBL; AF072864; AAD43195.1; -; mRNA.
DR EMBL; AL136648; CAB66583.1; -; mRNA.
DR EMBL; AK297018; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL050349; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001147; AAH01147.1; -; mRNA.
DR CCDS; CCDS13225.1; -. [Q9Y6I8-1]
DR CCDS; CCDS13226.1; -. [Q9Y6I8-2]
DR RefSeq; NP_009169.3; NM_007238.4. [Q9Y6I8-1]
DR RefSeq; NP_899634.1; NM_183397.2. [Q9Y6I8-2]
DR AlphaFoldDB; Q9Y6I8; -.
DR BioGRID; 116423; 4.
DR IntAct; Q9Y6I8; 2.
DR STRING; 9606.ENSP00000386385; -.
DR TCDB; 1.B.69.1.1; the peroxysomal membrane porin 4 (pxmp4) family.
DR GlyGen; Q9Y6I8; 2 sites.
DR iPTMnet; Q9Y6I8; -.
DR PhosphoSitePlus; Q9Y6I8; -.
DR BioMuta; PXMP4; -.
DR DMDM; 29840804; -.
DR EPD; Q9Y6I8; -.
DR jPOST; Q9Y6I8; -.
DR MassIVE; Q9Y6I8; -.
DR MaxQB; Q9Y6I8; -.
DR PaxDb; Q9Y6I8; -.
DR PeptideAtlas; Q9Y6I8; -.
DR PRIDE; Q9Y6I8; -.
DR ProteomicsDB; 86696; -. [Q9Y6I8-1]
DR ProteomicsDB; 86697; -. [Q9Y6I8-2]
DR Antibodypedia; 54645; 134 antibodies from 22 providers.
DR DNASU; 11264; -.
DR Ensembl; ENST00000344022.7; ENSP00000343071.3; ENSG00000101417.12. [Q9Y6I8-2]
DR Ensembl; ENST00000409299.8; ENSP00000386385.3; ENSG00000101417.12. [Q9Y6I8-1]
DR GeneID; 11264; -.
DR KEGG; hsa:11264; -.
DR MANE-Select; ENST00000409299.8; ENSP00000386385.3; NM_007238.5; NP_009169.3.
DR UCSC; uc002wzv.4; human. [Q9Y6I8-1]
DR CTD; 11264; -.
DR DisGeNET; 11264; -.
DR GeneCards; PXMP4; -.
DR HGNC; HGNC:15920; PXMP4.
DR HPA; ENSG00000101417; Low tissue specificity.
DR MIM; 616397; gene.
DR neXtProt; NX_Q9Y6I8; -.
DR OpenTargets; ENSG00000101417; -.
DR PharmGKB; PA34061; -.
DR VEuPathDB; HostDB:ENSG00000101417; -.
DR eggNOG; ENOG502RXMH; Eukaryota.
DR GeneTree; ENSGT00390000001562; -.
DR HOGENOM; CLU_054132_1_0_1; -.
DR InParanoid; Q9Y6I8; -.
DR OMA; DHWDSLR; -.
DR OrthoDB; 1238512at2759; -.
DR PhylomeDB; Q9Y6I8; -.
DR TreeFam; TF105313; -.
DR PathwayCommons; Q9Y6I8; -.
DR Reactome; R-HSA-9603798; Class I peroxisomal membrane protein import.
DR SignaLink; Q9Y6I8; -.
DR BioGRID-ORCS; 11264; 13 hits in 1079 CRISPR screens.
DR ChiTaRS; PXMP4; human.
DR GeneWiki; PXMP4; -.
DR GenomeRNAi; 11264; -.
DR Pharos; Q9Y6I8; Tbio.
DR PRO; PR:Q9Y6I8; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9Y6I8; protein.
DR Bgee; ENSG00000101417; Expressed in upper leg skin and 154 other tissues.
DR ExpressionAtlas; Q9Y6I8; baseline and differential.
DR Genevisible; Q9Y6I8; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005778; C:peroxisomal membrane; IDA:UniProtKB.
DR GO; GO:0005777; C:peroxisome; IDA:LIFEdb.
DR InterPro; IPR019531; Pmp4.
DR PANTHER; PTHR15460; PTHR15460; 1.
DR PIRSF; PIRSF013674; PXMP4; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Peroxisome;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..212
FT /note="Peroxisomal membrane protein 4"
FT /id="PRO_0000218932"
FT TRANSMEM 97..117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 153..173
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 57
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 206
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 59..71
FT /note="SLQEKLWAILQAT -> RSTCTCCHASCLP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041217"
FT VAR_SEQ 72..212
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041218"
FT VARIANT 204
FT /note="V -> I (in dbSNP:rs910397)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_015426"
SQ SEQUENCE 212 AA; 24264 MW; EE4DDA4B9BD16401 CRC64;
MAAPPQLRAL LVVVNALLRK RRYHAALAVL KGFRNGAVYG AKIRAPHALV MTFLFRNGSL
QEKLWAILQA TYIHSWNLAR FVFTYKGLRA LQSYIQGKTY PAHAFLAAFL GGILVFGENN
NINSQINMYL LSRVLFALSR LAVEKGYIPE PRWDPFPLLT AVVWGLVLWL FEYHRSTLQP
SLQSSMTYLY EDSNVWHDIS DFLVYNKSRP SN
