ID PEX5R_HUMAN Reviewed; 626 AA.
AC Q8IYB4; B7Z2A5; B7Z8P2; E7EUZ0; Q9NQD1; Q9P2U3; Q9P2U4;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2004, sequence version 2.
DT 01-MAY-2013, entry version 97.
DE RecName: Full=PEX5-related protein;
DE AltName: Full=PEX2-related protein;
DE AltName: Full=PEX5-like protein;
DE AltName: Full=Peroxin-5-related protein;
DE AltName: Full=Peroxisome biogenesis factor 5-like;
DE AltName: Full=Tetratricopeptide repeat-containing Rab8b-interacting protein;
DE Short=Pex5Rp;
DE Short=TRIP8b;
GN Name=PEX5L; Synonyms=PEX5R, PXR2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RA Sano H., Snider J., Ohta M.;
RT "A novel peroxisomal targeting signal 1 receptor-like gene, PXR2,
RT preferentially expressed in brain.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).
RC TISSUE=Amygdala, and Kidney;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 264-626, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND POSSIBLE INTERACTION WITH PTS1 PROTEINS.
RC TISSUE=Liver;
RX PubMed=11463335; DOI=10.1042/0264-6021:3570635;
RA Amery L., Sano H., Mannaerts G.P., Snider J., Van Looy J., Fransen M.,
RA Van Veldhoven P.P.;
RT "Identification of PEX5p-related novel peroxisome-targeting signal 1
RT (PTS1)-binding proteins in mammals.";
RL Biochem. J. 357:635-646(2001).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] THR-226.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Accessory subunit of hyperpolarization-activated cyclic
CC nucleotide-gated (HCN) channels, regulating their cell-surface
CC expression and cyclic nucleotide dependence (By similarity).
CC -!- SUBUNIT: Interacts with RAB8B. Forms an obligate 4:4 complex with
CC HCN2 (By similarity). May interact with the C-terminal PTS1-type
CC tripeptide peroxisomal targeting signal (SKL-type); the relevance
CC of such interaction is however unclear.
CC -!- SUBCELLULAR LOCATION: Cytoplasm (By similarity). Membrane;
CC Peripheral membrane protein (By similarity). Note=Some fraction is
CC membrane associated via its interaction with RAB8B (By
CC similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=PXR2b;
CC IsoId=Q8IYB4-1; Sequence=Displayed;
CC Name=2; Synonyms=PXR2a;
CC IsoId=Q8IYB4-2; Sequence=VSP_010435;
CC Name=3;
CC IsoId=Q8IYB4-3; Sequence=VSP_010436;
CC Name=4;
CC IsoId=Q8IYB4-4; Sequence=VSP_044743;
CC Note=No experimental confirmation available;
CC Name=5;
CC IsoId=Q8IYB4-5; Sequence=VSP_045136;
CC -!- TISSUE SPECIFICITY: Mainly expressed in brain. Also expressed in
CC pancreas, testis and pituitary.
CC -!- SIMILARITY: Belongs to the peroxisomal targeting signal receptor
CC family.
CC -!- SIMILARITY: Contains 6 TPR repeats.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAC01120.1; Type=Erroneous initiation;
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DR EMBL; AB032592; BAA92878.1; -; mRNA.
DR EMBL; AB032593; BAA92879.1; -; mRNA.
DR EMBL; AK294501; BAH11791.1; -; mRNA.
DR EMBL; AK303716; BAH14028.1; -; mRNA.
DR EMBL; AC007687; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090024; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092939; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW78382.1; -; Genomic_DNA.
DR EMBL; BC036183; AAH36183.2; -; mRNA.
DR EMBL; AJ245503; CAC01120.1; ALT_INIT; mRNA.
DR IPI; IPI00009809; -.
DR IPI; IPI00163742; -.
DR IPI; IPI00477011; -.
DR IPI; IPI00983212; -.
DR RefSeq; NP_001243679.1; NM_001256750.1.
DR RefSeq; NP_001243680.1; NM_001256751.1.
DR RefSeq; NP_001243681.1; NM_001256752.1.
DR RefSeq; NP_001243682.1; NM_001256753.1.
DR RefSeq; NP_001243683.1; NM_001256754.1.
DR RefSeq; NP_001243684.1; NM_001256755.1.
DR RefSeq; NP_001243685.1; NM_001256756.1.
DR RefSeq; NP_057643.1; NM_016559.2.
DR UniGene; Hs.235331; -.
DR ProteinModelPortal; Q8IYB4; -.
DR DIP; DIP-58547N; -.
DR STRING; 9606.ENSP00000419975; -.
DR PhosphoSite; Q8IYB4; -.
DR DMDM; 47606040; -.
DR PaxDb; Q8IYB4; -.
DR PRIDE; Q8IYB4; -.
DR Ensembl; ENST00000263962; ENSP00000263962; ENSG00000114757.
DR Ensembl; ENST00000467460; ENSP00000419975; ENSG00000114757.
DR Ensembl; ENST00000472994; ENSP00000418054; ENSG00000114757.
DR Ensembl; ENST00000476138; ENSP00000420555; ENSG00000114757.
DR Ensembl; ENST00000485199; ENSP00000418440; ENSG00000114757.
DR GeneID; 51555; -.
DR KEGG; hsa:51555; -.
DR UCSC; uc003fki.1; human.
DR UCSC; uc003fkj.1; human.
DR UCSC; uc010hxd.1; human.
DR CTD; 51555; -.
DR GeneCards; GC03M179512; -.
DR HGNC; HGNC:30024; PEX5L.
DR HPA; HPA040216; -.
DR MIM; 611058; gene.
DR neXtProt; NX_Q8IYB4; -.
DR PharmGKB; PA134892044; -.
DR eggNOG; COG0457; -.
DR HOGENOM; HOG000158146; -.
DR HOVERGEN; HBG053575; -.
DR InParanoid; Q8IYB4; -.
DR OMA; NSKGHPM; -.
DR OrthoDB; EOG4ZW59S; -.
DR PhylomeDB; Q8IYB4; -.
DR GenomeRNAi; 51555; -.
DR NextBio; 55344; -.
DR ArrayExpress; Q8IYB4; -.
DR Bgee; Q8IYB4; -.
DR CleanEx; HS_PEX5L; -.
DR Genevestigator; Q8IYB4; -.
DR GermOnline; ENSG00000114757; Homo sapiens.
DR GO; GO:0005829; C:cytosol; IBA:RefGenome.
DR GO; GO:0030425; C:dendrite; IEA:Compara.
DR GO; GO:0005778; C:peroxisomal membrane; IBA:RefGenome.
DR GO; GO:0005052; F:peroxisome matrix targeting signal-1 binding; IBA:RefGenome.
DR GO; GO:0045185; P:maintenance of protein location; IEA:Compara.
DR GO; GO:0016560; P:protein import into peroxisome matrix, docking; IBA:RefGenome.
DR GO; GO:0043949; P:regulation of cAMP-mediated signaling; ISS:UniProtKB.
DR GO; GO:0042391; P:regulation of membrane potential; IEA:Compara.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR024112; PEX5-rel.
DR InterPro; IPR024111; PTS1R_family.
DR InterPro; IPR001440; TPR-1.
DR InterPro; IPR013026; TPR-contain_dom.
DR InterPro; IPR011990; TPR-like_helical.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR10130; PTHR10130; 1.
DR PANTHER; PTHR10130:SF1; PTHR10130:SF1; 1.
DR Pfam; PF00515; TPR_1; 2.
DR SMART; SM00028; TPR; 5.
DR PROSITE; PS50005; TPR; 5.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Cytoplasm; Membrane;
KW Phosphoprotein; Polymorphism; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1 626 PEX5-related protein.
FT /FTId=PRO_0000106317.
FT REPEAT 326 359 TPR 1.
FT REPEAT 360 393 TPR 2.
FT REPEAT 395 427 TPR 3.
FT REPEAT 474 507 TPR 4.
FT REPEAT 509 541 TPR 5.
FT REPEAT 543 575 TPR 6.
FT MOD_RES 261 261 Phosphoserine (By similarity).
FT MOD_RES 447 447 Phosphoserine (By similarity).
FT VAR_SEQ 1 43 Missing (in isoform 5).
FT /FTId=VSP_045136.
FT VAR_SEQ 7 65 Missing (in isoform 4).
FT /FTId=VSP_044743.
FT VAR_SEQ 8 31 KSKEQGYGKLSSDEDLEIIVDQKQ -> VVGVTLKKKWHCL
FT QKSDLTLAL (in isoform 2).
FT /FTId=VSP_010435.
FT VAR_SEQ 32 66 Missing (in isoform 3).
FT /FTId=VSP_010436.
FT VARIANT 226 226 A -> T (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_035865.
FT CONFLICT 216 216 S -> Y (in Ref. 5; AAH36183).
FT CONFLICT 318 318 H -> P (in Ref. 2; BAH11791).
FT CONFLICT 474 474 P -> T (in Ref. 5; AAH36183).
SQ SEQUENCE 626 AA; 69697 MW; 07109ABE1B2314C1 CRC64;
MYQGHMQKSK EQGYGKLSSD EDLEIIVDQK QGKGSRAADK AVAMVMKEIP REESAEEKPL
LTMTSQLVNE QQESRPLLSP SIDDFLCETK SEAIARPVTS NTAVLTTGLD LLDLSEPVSQ
TQTKAKKSEP SSKTSSLKKK ADGSDLISTD AEQRGQPLRV PETSSLDLDI QTQLEKWDDV
KFHGDRNTKG HPMAERKSSS SRTGSKELLW SSEHRSQPEL SGGKSALNSE SASELELVAP
TQARLTKEHR WGSALLSRNH SLEEEFERAK AAVESDTEFW DKMQAEWEEM ARRNWISENQ
EAQNQVTISA SEKGYYFHTE NPFKDWPGAF EEGLKRLKEG DLPVTILFME AAILQDPGDA
EAWQFLGITQ AENENEQAAI VALQRCLELQ PNNLKALMAL AVSYTNTGHQ QDACDALKNW
IKQNPKYKYL VKSKKGSPGL TRRMSKSPVD SSVLEGVKEL YLEAAHQNGD MIDPDLQTGL
GVLFHLSGEF NRAIDAFNAA LTVRPEDYSL WNRLGATLAN GDRSEEAVEA YTRALEIQPG
FIRSRYNLGI SCINLGAYRE AVSNFLTALS LQRKSRNQQQ VPHPAISGNI WAALRIALSL
MDQPELFQAA NLGDLDVLLR AFNLDP
//
