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Database: UniProt
Entry: Q8IYB4
LinkDB: Q8IYB4
Original site: Q8IYB4 
ID   PEX5R_HUMAN             Reviewed;         626 AA.
AC   Q8IYB4; B7Z2A5; B7Z305; B7Z318; B7Z5Z5; B7Z8P2; E7EUV8; E7EUZ0;
AC   E9PEC1; E9PH97; Q9NQD1; Q9P2U3; Q9P2U4;
DT   24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT   24-MAY-2004, sequence version 2.
DT   19-MAR-2014, entry version 106.
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; 5; 6; 7 AND 8).
RC   TISSUE=Amygdala, Brain, Corpus callosum, 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=8;
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       Name=6;
CC         IsoId=Q8IYB4-6; Sequence=VSP_046977;
CC       Name=7;
CC         IsoId=Q8IYB4-7; Sequence=VSP_045136, VSP_046978;
CC       Name=8;
CC         IsoId=Q8IYB4-8; Sequence=VSP_046976;
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; AK295349; BAH12041.1; -; mRNA.
DR   EMBL; AK295386; BAH12054.1; -; mRNA.
DR   EMBL; AK299633; BAH13081.1; -; 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   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   SMR; Q8IYB4; 314-625.
DR   BioGrid; 119607; 1.
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. [Q8IYB4-2]
DR   Ensembl; ENST00000392649; ENSP00000376420; ENSG00000114757. [Q8IYB4-7]
DR   Ensembl; ENST00000464614; ENSP00000417270; ENSG00000114757. [Q8IYB4-7]
DR   Ensembl; ENST00000465751; ENSP00000419348; ENSG00000114757. [Q8IYB4-6]
DR   Ensembl; ENST00000467460; ENSP00000419975; ENSG00000114757. [Q8IYB4-1]
DR   Ensembl; ENST00000468741; ENSP00000418665; ENSG00000114757. [Q8IYB4-8]
DR   Ensembl; ENST00000472994; ENSP00000418054; ENSG00000114757. [Q8IYB4-4]
DR   Ensembl; ENST00000476138; ENSP00000420555; ENSG00000114757. [Q8IYB4-5]
DR   Ensembl; ENST00000485199; ENSP00000418440; ENSG00000114757. [Q8IYB4-3]
DR   GeneID; 51555; -.
DR   KEGG; hsa:51555; -.
DR   UCSC; uc003fki.2; human. [Q8IYB4-1]
DR   UCSC; uc003fkj.2; human. [Q8IYB4-3]
DR   UCSC; uc010hxd.2; human. [Q8IYB4-2]
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; RNSKGHP; -.
DR   OrthoDB; EOG793B77; -.
DR   PhylomeDB; Q8IYB4; -.
DR   TreeFam; TF315044; -.
DR   GenomeRNAi; 51555; -.
DR   NextBio; 55344; -.
DR   PRO; PR:Q8IYB4; -.
DR   ArrayExpress; Q8IYB4; -.
DR   Bgee; Q8IYB4; -.
DR   CleanEx; HS_PEX5L; -.
DR   Genevestigator; Q8IYB4; -.
DR   GO; GO:0005829; C:cytosol; IBA:RefGenome.
DR   GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR   GO; GO:0005778; C:peroxisomal membrane; IBA:RefGenome.
DR   GO; GO:0043235; C:receptor complex; IDA:MGI.
DR   GO; GO:0005052; F:peroxisome matrix targeting signal-1 binding; IBA:RefGenome.
DR   GO; GO:0045185; P:maintenance of protein location; IEA:Ensembl.
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:Ensembl.
DR   Gene3D; 1.25.40.10; -; 2.
DR   InterPro; IPR024112; PEX5-rel.
DR   InterPro; IPR024111; PTS1R_family.
DR   InterPro; IPR013026; TPR-contain_dom.
DR   InterPro; IPR011990; TPR-like_helical.
DR   InterPro; IPR001440; TPR_1.
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   VAR_SEQ       1    192       Missing (in isoform 8).
FT                                /FTId=VSP_046976.
FT   VAR_SEQ       1     43       Missing (in isoform 5 and isoform 7).
FT                                /FTId=VSP_045136.
FT   VAR_SEQ       7     65       Missing (in isoform 4).
FT                                /FTId=VSP_044743.
FT   VAR_SEQ       7     30       Missing (in isoform 6).
FT                                /FTId=VSP_046977.
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   VAR_SEQ     104    168       Missing (in isoform 7).
FT                                /FTId=VSP_046978.
FT   VARIANT     226    226       A -> T (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_035865.
FT   CONFLICT     88     88       E -> K (in Ref. 2; BAH12041).
FT   CONFLICT    216    216       S -> Y (in Ref. 5; AAH36183).
FT   CONFLICT    292    292       R -> Q (in Ref. 2; BAH13081).
FT   CONFLICT    318    318       H -> P (in Ref. 2; BAH11791).
FT   CONFLICT    409    409       H -> Y (in Ref. 2; BAH12054).
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
//
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