PEX5R_HUMAN
ID PEX5R_HUMAN Reviewed; 626 AA.
AC Q8IYB4; B7Z2A5; B7Z305; B7Z318; B7Z5Z5; B7Z8P2; E7EUV8; E7EUZ0; E9PEC1;
AC E9PH97; Q9NQD1; Q9P2U3; Q9P2U4;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2004, sequence version 2.
DT 03-AUG-2022, entry version 165.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., 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 [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., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., 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., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal 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. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with RAB8B. Forms an obligate 4:4 complex with HCN2
CC (By similarity). May interact with the C-terminal PTS1-type tripeptide
CC peroxisomal targeting signal (SKL-type); the relevance of such
CC interaction is however unclear (PubMed:11463335). Interacts with HCN3
CC (By similarity). {ECO:0000250|UniProtKB:Q8C437,
CC ECO:0000250|UniProtKB:Q925N3, ECO:0000269|PubMed:11463335}.
CC -!- INTERACTION:
CC Q8IYB4-6; O88703: Hcn2; Xeno; NbExp=18; IntAct=EBI-16150786, EBI-771231;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250};
CC Peripheral membrane protein {ECO:0000250}. Note=Some fraction is
CC membrane associated via its interaction with RAB8B. {ECO:0000250}.
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 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. {ECO:0000269|PubMed:11463335}.
CC -!- SIMILARITY: Belongs to the peroxisomal targeting signal receptor
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAC01120.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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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 CCDS; CCDS3236.1; -. [Q8IYB4-1]
DR CCDS; CCDS58861.1; -. [Q8IYB4-8]
DR CCDS; CCDS58862.1; -. [Q8IYB4-7]
DR CCDS; CCDS58863.1; -. [Q8IYB4-5]
DR CCDS; CCDS58864.1; -. [Q8IYB4-4]
DR CCDS; CCDS58865.1; -. [Q8IYB4-6]
DR CCDS; CCDS58866.1; -. [Q8IYB4-2]
DR CCDS; CCDS58867.1; -. [Q8IYB4-3]
DR RefSeq; NP_001243679.1; NM_001256750.1. [Q8IYB4-2]
DR RefSeq; NP_001243680.1; NM_001256751.1. [Q8IYB4-6]
DR RefSeq; NP_001243681.1; NM_001256752.1. [Q8IYB4-3]
DR RefSeq; NP_001243682.1; NM_001256753.1. [Q8IYB4-4]
DR RefSeq; NP_001243683.1; NM_001256754.1. [Q8IYB4-5]
DR RefSeq; NP_001243684.1; NM_001256755.1. [Q8IYB4-7]
DR RefSeq; NP_001243685.1; NM_001256756.1. [Q8IYB4-8]
DR RefSeq; NP_057643.1; NM_016559.2. [Q8IYB4-1]
DR RefSeq; XP_011511189.1; XM_011512887.2.
DR RefSeq; XP_011511193.1; XM_011512891.2. [Q8IYB4-8]
DR RefSeq; XP_011511194.1; XM_011512892.2. [Q8IYB4-8]
DR RefSeq; XP_016862095.1; XM_017006606.1.
DR RefSeq; XP_016862096.1; XM_017006607.1. [Q8IYB4-8]
DR RefSeq; XP_016862097.1; XM_017006608.1. [Q8IYB4-8]
DR RefSeq; XP_016862098.1; XM_017006609.1.
DR RefSeq; XP_016862099.1; XM_017006610.1.
DR RefSeq; XP_016862100.1; XM_017006611.1.
DR AlphaFoldDB; Q8IYB4; -.
DR SMR; Q8IYB4; -.
DR BioGRID; 119607; 6.
DR DIP; DIP-58547N; -.
DR IntAct; Q8IYB4; 9.
DR MINT; Q8IYB4; -.
DR STRING; 9606.ENSP00000419975; -.
DR BindingDB; Q8IYB4; -.
DR iPTMnet; Q8IYB4; -.
DR PhosphoSitePlus; Q8IYB4; -.
DR BioMuta; PEX5L; -.
DR DMDM; 47606040; -.
DR MassIVE; Q8IYB4; -.
DR PaxDb; Q8IYB4; -.
DR PeptideAtlas; Q8IYB4; -.
DR PRIDE; Q8IYB4; -.
DR ProteomicsDB; 18507; -.
DR ProteomicsDB; 18530; -.
DR ProteomicsDB; 19857; -.
DR ProteomicsDB; 20485; -.
DR ProteomicsDB; 6966; -.
DR ProteomicsDB; 71142; -. [Q8IYB4-1]
DR ProteomicsDB; 71143; -. [Q8IYB4-2]
DR ProteomicsDB; 71144; -. [Q8IYB4-3]
DR ABCD; Q8IYB4; 4 sequenced antibodies.
DR Antibodypedia; 54548; 47 antibodies from 17 providers.
DR DNASU; 51555; -.
DR Ensembl; ENST00000263962.12; ENSP00000263962.8; ENSG00000114757.19. [Q8IYB4-2]
DR Ensembl; ENST00000392649.7; ENSP00000376420.3; ENSG00000114757.19. [Q8IYB4-7]
DR Ensembl; ENST00000464614.5; ENSP00000417270.1; ENSG00000114757.19. [Q8IYB4-7]
DR Ensembl; ENST00000465751.5; ENSP00000419348.1; ENSG00000114757.19. [Q8IYB4-6]
DR Ensembl; ENST00000467460.6; ENSP00000419975.1; ENSG00000114757.19. [Q8IYB4-1]
DR Ensembl; ENST00000468741.5; ENSP00000418665.1; ENSG00000114757.19. [Q8IYB4-8]
DR Ensembl; ENST00000472994.5; ENSP00000418054.1; ENSG00000114757.19. [Q8IYB4-4]
DR Ensembl; ENST00000476138.5; ENSP00000420555.1; ENSG00000114757.19. [Q8IYB4-5]
DR Ensembl; ENST00000485199.5; ENSP00000418440.1; ENSG00000114757.19. [Q8IYB4-3]
DR GeneID; 51555; -.
DR KEGG; hsa:51555; -.
DR MANE-Select; ENST00000467460.6; ENSP00000419975.1; NM_016559.3; NP_057643.1.
DR UCSC; uc003fki.3; human. [Q8IYB4-1]
DR CTD; 51555; -.
DR DisGeNET; 51555; -.
DR GeneCards; PEX5L; -.
DR HGNC; HGNC:30024; PEX5L.
DR HPA; ENSG00000114757; Tissue enriched (brain).
DR MIM; 611058; gene.
DR neXtProt; NX_Q8IYB4; -.
DR OpenTargets; ENSG00000114757; -.
DR PharmGKB; PA134892044; -.
DR VEuPathDB; HostDB:ENSG00000114757; -.
DR eggNOG; KOG1125; Eukaryota.
DR GeneTree; ENSGT00940000155931; -.
DR HOGENOM; CLU_013516_5_0_1; -.
DR InParanoid; Q8IYB4; -.
DR OMA; VTSNTAX; -.
DR OrthoDB; 588648at2759; -.
DR PhylomeDB; Q8IYB4; -.
DR TreeFam; TF315044; -.
DR PathwayCommons; Q8IYB4; -.
DR SignaLink; Q8IYB4; -.
DR BioGRID-ORCS; 51555; 11 hits in 1063 CRISPR screens.
DR ChiTaRS; PEX5L; human.
DR GenomeRNAi; 51555; -.
DR Pharos; Q8IYB4; Tbio.
DR PRO; PR:Q8IYB4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IYB4; protein.
DR Bgee; ENSG00000114757; Expressed in endothelial cell and 128 other tissues.
DR ExpressionAtlas; Q8IYB4; baseline and differential.
DR Genevisible; Q8IYB4; HS.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005778; C:peroxisomal membrane; IBA:GO_Central.
DR GO; GO:0043235; C:receptor complex; IDA:MGI.
DR GO; GO:0005221; F:intracellular cyclic nucleotide activated cation channel activity; IEA:InterPro.
DR GO; GO:0005052; F:peroxisome matrix targeting signal-1 binding; IDA:UniProtKB.
DR GO; GO:0000268; F:peroxisome targeting sequence binding; IDA:UniProtKB.
DR GO; GO:0031267; F:small GTPase binding; IPI:UniProtKB.
DR GO; GO:0016560; P:protein import into peroxisome matrix, docking; IBA:GO_Central.
DR GO; GO:0043949; P:regulation of cAMP-mediated signaling; ISS:UniProtKB.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR024111; PEX5/PEX5L.
DR InterPro; IPR024112; PEX5L_vertebrates.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR10130; PTHR10130; 1.
DR PANTHER; PTHR10130:SF1; PTHR10130:SF1; 1.
DR Pfam; PF13181; TPR_8; 2.
DR SMART; SM00028; TPR; 5.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50005; TPR; 5.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Membrane; Phosphoprotein;
KW Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..626
FT /note="PEX5-related protein"
FT /id="PRO_0000106317"
FT REPEAT 326..359
FT /note="TPR 1"
FT REPEAT 360..393
FT /note="TPR 2"
FT REPEAT 395..427
FT /note="TPR 3"
FT REPEAT 474..507
FT /note="TPR 4"
FT REPEAT 509..541
FT /note="TPR 5"
FT REPEAT 543..575
FT /note="TPR 6"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 118..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 181..235
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 131..147
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 181..213
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 214..235
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 205
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C437"
FT MOD_RES 253
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q925N3"
FT MOD_RES 257
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q925N3"
FT MOD_RES 261
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C437"
FT MOD_RES 445
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C437"
FT MOD_RES 447
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C437"
FT VAR_SEQ 1..192
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046976"
FT VAR_SEQ 1..43
FT /note="Missing (in isoform 5 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045136"
FT VAR_SEQ 7..65
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044743"
FT VAR_SEQ 7..30
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046977"
FT VAR_SEQ 8..31
FT /note="KSKEQGYGKLSSDEDLEIIVDQKQ -> VVGVTLKKKWHCLQKSDLTLAL
FT (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_010435"
FT VAR_SEQ 32..66
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_010436"
FT VAR_SEQ 104..168
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046978"
FT VARIANT 226
FT /note="A -> T (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs146906651)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035865"
FT CONFLICT 88
FT /note="E -> K (in Ref. 2; BAH12041)"
FT /evidence="ECO:0000305"
FT CONFLICT 216
FT /note="S -> Y (in Ref. 5; AAH36183)"
FT /evidence="ECO:0000305"
FT CONFLICT 292
FT /note="R -> Q (in Ref. 2; BAH13081)"
FT /evidence="ECO:0000305"
FT CONFLICT 318
FT /note="H -> P (in Ref. 2; BAH11791)"
FT /evidence="ECO:0000305"
FT CONFLICT 409
FT /note="H -> Y (in Ref. 2; BAH12054)"
FT /evidence="ECO:0000305"
FT CONFLICT 474
FT /note="P -> T (in Ref. 5; AAH36183)"
FT /evidence="ECO:0000305"
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
