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PKHD1

 Q6T3A5_MOUSE            Unreviewed;      4060 AA.
Q6T3A5;
05-JUL-2004, integrated into UniProtKB/TrEMBL.
05-JUL-2004, sequence version 1.
28-FEB-2018, entry version 99.
SubName: Full=PKHD1 {ECO:0000313|EMBL:AAS00499.1};
Name=Pkhd1 {ECO:0000313|MGI:MGI:2155808};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090 {ECO:0000313|EMBL:AAS00499.1};
[1] {ECO:0000313|EMBL:AAS00499.1}
NUCLEOTIDE SEQUENCE.
PubMed=14983006; DOI=10.1073/pnas.0400073101;
Zhang M.-Z., Mai W., Li C., Cho S.Y., Hao C., Moeckel G., Zhao R.,
Kim I.G., Wang J., Xiong H., Wang H., Sato Y., Wu Y., Nakanuma Y.,
Lilova M., Pei Y., Harris R.C., Li S., Coffey R.J., Sun L., Wu D.,
Chen X.-Z., Breyer M.D., Zhao Z.J., McKanna J.A., Wu G.;
"PKHD1 protein encoded by the gene for autosomal recessive polycystic
kidney disease associates with basal bodies and primary cilia in renal
epithelial cells.";
Proc. Natl. Acad. Sci. U.S.A. 101:2311-2316(2004).
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EMBL; AY438374; AAS00499.1; -; mRNA.
RefSeq; NP_694819.2; NM_153179.3.
UniGene; Mm.249253; -.
iPTMnet; Q6T3A5; -.
PhosphoSitePlus; Q6T3A5; -.
GeneID; 241035; -.
KEGG; mmu:241035; -.
CTD; 5314; -.
MGI; MGI:2155808; Pkhd1.
eggNOG; ENOG410IEIF; Eukaryota.
eggNOG; ENOG410XQ01; LUCA.
HOGENOM; HOG000115555; -.
HOVERGEN; HBG053604; -.
KO; K19865; -.
Genevisible; Q6T3A5; MM.
GO; GO:0016324; C:apical plasma membrane; ISS:UniProtKB.
GO; GO:0005813; C:centrosome; ISO:MGI.
GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
GO; GO:0005929; C:cilium; ISO:MGI.
GO; GO:0005737; C:cytoplasm; ISO:MGI.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0072686; C:mitotic spindle; ISO:MGI.
GO; GO:0048471; C:perinuclear region of cytoplasm; ISO:MGI.
GO; GO:0098609; P:cell-cell adhesion; IMP:UniProtKB.
GO; GO:0006874; P:cellular calcium ion homeostasis; ISO:MGI.
GO; GO:0060271; P:cilium assembly; IMP:MGI.
GO; GO:0001822; P:kidney development; IDA:MGI.
GO; GO:0043066; P:negative regulation of apoptotic process; ISO:MGI.
GO; GO:0051271; P:negative regulation of cellular component movement; IMP:UniProtKB.
GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; ISO:MGI.
GO; GO:0051898; P:negative regulation of protein kinase B signaling; ISO:MGI.
GO; GO:0008284; P:positive regulation of cell proliferation; ISO:MGI.
GO; GO:0010824; P:regulation of centrosome duplication; ISO:MGI.
GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; ISO:MGI.
GO; GO:0032006; P:regulation of TOR signaling; ISO:MGI.
Gene3D; 2.160.20.10; -; 1.
Gene3D; 2.60.40.10; -; 5.
InterPro; IPR019316; G8_domain.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR014756; Ig_E-set.
InterPro; IPR002909; IPT_dom.
InterPro; IPR037524; PA14/GLEYA.
InterPro; IPR006626; PbH1.
InterPro; IPR012334; Pectin_lyas_fold.
InterPro; IPR011050; Pectin_lyase_fold/virulence.
InterPro; IPR028839; PKHD1.
PANTHER; PTHR45107; PTHR45107; 1.
Pfam; PF10162; G8; 2.
Pfam; PF01833; TIG; 6.
SMART; SM01225; G8; 2.
SMART; SM00429; IPT; 6.
SMART; SM00710; PbH1; 7.
SUPFAM; SSF51126; SSF51126; 3.
SUPFAM; SSF81296; SSF81296; 6.
PROSITE; PS51484; G8; 2.
PROSITE; PS51820; PA14; 1.
2: Evidence at transcript level;
Membrane {ECO:0000256|SAM:Phobius}; Signal {ECO:0000256|SAM:SignalP};
Transmembrane {ECO:0000256|SAM:Phobius};
Transmembrane helix {ECO:0000256|SAM:Phobius}.
SIGNAL 1 18 {ECO:0000256|SAM:SignalP}.
CHAIN 19 4060 {ECO:0000256|SAM:SignalP}.
/FTId=PRO_5004280003.
TRANSMEM 3853 3876 Helical. {ECO:0000256|SAM:Phobius}.
DOMAIN 323 483 PA14. {ECO:0000259|PROSITE:PS51820}.
DOMAIN 1928 2049 G8. {ECO:0000259|PROSITE:PS51484}.
DOMAIN 2742 2868 G8. {ECO:0000259|PROSITE:PS51484}.
SEQUENCE 4060 AA; 445053 MW; 224324699319A6D4 CRC64;
MMLAWLVSLL SMEVLLLAKP YSSFQIEPAE GSLAGGTWIT VVFDGLDRSI LYPNNGSQLQ
IDLVSVAIPT LRIPCDVSPA FVDLPVVTCQ TRSLPSEADA GPYSLEMRSG EQVLGTPCPG
SLDSCTFKFS KDQTPVLYQV YPASGVPGEV VSVYGRVITT WLETFDPDVD YIESPLILEA
REDKWLTPCS LINRQTGSCF PIQEEHGLGN VQCRVEGDYI GSQNVSFSVF NKGRSMVHKE
AWLISAKQEL FLYQTYPEIL SVFPKVGSLG GRTDIIITGD FFDPSARVTI AGIPCDIRYV
SPRKIECTTR APGNEARLTA PQAGNRGLRF EVGDATKDVE LTEATPGYRW QIVPNASSPS
GFWSKEGRPF RARLSGFFVA PQTNNYTFWI QADSQASLCF SSSEEPRTKV EVASVGVGTA
DWFDSWEQIG NEGSWHQKTT KLELQGGAKY YLEAEQHGIA PSRGMRIGVQ IHNTWLNPDV
VNTYLLEKHQ IRARAQRLPE IQVLHVSGKG NFFLTWGNVS SQPVPANATA QQIQTTIEEL
LVVKCNLAPF SARVLLRLGF EQGLEGSRSD GVLTSSTEPF CGRFGLGQLG HLILIPEAAD
KGYQPDRYPY LCLAYRGHMN KTLDMTVSFL FGFQNIMKNI TCDWSLTNPH PESWQFTCIN
LWDTCLCHSE DLQSSLANTP LLVHRIDIRP VVPEAGLLYV DEIILADTNV TVSQADSGRA
CPGGNVVESV SVVGVPPVYS ISSWLAGCGS ELPLITACSV STEGTGDGSE LIEVTAQRLQ
RTSPPLGGHF FLYLSDTVIT DVPVRMSARQ LHKLLQDSAD ESTSGYLNAG DFTVTEDLNS
CYEHVWTLSW TTQTGDLPNF IRVSDQNLTG VNPTVTARVV YDGGVFLGPL FGDMLATANQ
QTQVAVQVND IPAYCSGSCS FQYQQESTPS VDHVWYSLGS DVNLLVHFTG TGFPRDTQFL
QVPVNKTSCE VLFSNETNVA CELALLPVGV HQIFMLVIPS GLAVNASGED LLLHVEPRLD
AVEPSTAAEI GGRWVTLRGS SLEGVSLVLF GTQSCVIDAI RSNSQQIQCK VPPRGKVGYT
VNVTVISGDH STVLARAFTY VSSLNPVIVS LSRNRSSIAG GEILFLGMSL LVNYTDLDVQ
IHVQDTSAQV LSQTAWGLEV VLPPLVPGIH AISAFINGVS IRSQGVDLYI QYLTEVFSVE
PCSGSLLGGT LLNLLGTGLG RDPALIRVLV DNHPCDIVDL TEVNIWCETP PAVLPPRADV
LTVPASVEIW AGNTSFFHGP SLVGKGFTFT YEAAATPVVT AMWGEFRNNS VRFYVEGSNI
SDSVILLGSL KCELEVQFFG DSMNLFGCFF PLHSLEAGVY TLQVRHKRMG FANMSVVPQK
FELSPQIIAI FPTHGSKCGG TVLTVKGMAF SSRKRSVHVD ISGPFACMIL SLEDHTVLCQ
TRFVGDQFSE ASLALNITVL VNGLTSKCKG NCTLFIEEAA TPNVDALTIS ISGSLTMVLM
RGRRLATTAD EPIAFVHDQL PCHTTFFNTS HVACQIRDLA PGFHYLSAVH TSAGYACLNS
VSRNFFIVPQ VLDYFPKDFS IHGGSLLTIK GTALRGWKAT VVYVGRQACL TVNFSSDFIQ
CIVPAGNGSA ALEIDVDGVL YHIGLVDYSS IFTPELLSVS RSQDILTFTV ARISGAANVD
IFIGTSPCLG VAGNRTVLQC MVPLLPAGEY LVTGYDHSRG WASSTLILVL RATVTSVTKN
YGCLGGRLLH VLGAGFSPGN ISAAVCGAPC QVLANATVSA FSCLVLPLDV SLAFLCDLRH
AEDSCKVRSS TYLQCDLTVS MGTERLPGSW PYVYLCEESS LCLFEPDHWT ESVFPSFSGL
FLSPKVERDE VLIYNSSCNI TMETEAEMEC EMPNQPITAK ITEIQKNWGQ NTQGNFSFQF
CRRWSRPHSW FPQRVPHDGD SVTVETGHLL LLDANTSFLN SLHIKGGKLI FMDPGPIELR
AHSILITDGG ELHIGSEEKP FQGKARIKIY GSVHSTPFFP YGVKFLAVRN GTLSLHGSVP
EVTVTYLQAA AHAGDKVLTL GEAVDWKPGD EAVITSGMTV AGAEATEVVV VETVHNADLH
LRNPLRYSYD FRENWVAGEN PILKPSVALL SRNIIIQGNF TLERVKLLNS CQEANTAKGN
LKHCLYSKSE KMLGARDLGA RVIIQSFPEE PSFVKLKGVQ FRDLGQAFHK HLSSLALVGA
MRGSYIQSCS VWNSFSRGLS MHRTWGLKVD SNVFYKIVGH ALLLGLPTWT EGLALVRLLL
EEKNGWWEQG STIRNNVIIS VSAAEGLSGS EMLAPAGIYT FSPTNVMEGN RVCAAGYGYV
FHLVTSQTLQ APLLSFNWNT AHSCTRYGLL VYPKFQPPWN NDTGFTLFQN FMVWGSAGGA
QIFRSNNLHL KNFQVYACRD FGIDILESDE NTLITDSFLL GHFTHKGSLC MSAGIKTPQR
WELTISNTTF VNFDDNCVAI RTCSGCFQGQ GGYTVKTRQL KFVNSSNLVA FPFPHAAVLE
DLDGSLSGKN GSHVLASMET LSDTCLTNAS FSQIVPGSVC GEAVLFHRMS IALANSLDVP
KNLTITDIGN KTITVNYVED TLSNYYGWMA LLLDQETYSL QFESPWMNRS LQYSATFDSF
APGNYLLIMH RDLPPYPDIL LRCGSQVGHS LPFHPLPSQD RACDWFFNRQ LRQLTYLVSG
EGQVKVFLQL KPGVPPSVSA STSVPESASR WSLPETWQDV EKGWGGYNHT IPGPGDDVLI
LPNKTVLVDT DLPVLRCLYV MGTLEFPVDR SNVLSVACLL IAGGELKVGT LENPLEKDQR
LLIFLRASEE VVCDYFEGIH VDPGTIGVYG KLRLHSAYPK KSWVHLGADI APGNERIIVH
NAVDWQPHDT IVLSSSSYEA HEAEVLTVKE VKGHHIRIYE RLKHRHIGST HIMEDGQQIH
LAAEVGLLTR NIRIQPDSSC RGRLLVGSFR KSSGEDFSGV LQLLNVEIQN MGLPLYSSIE
FTGVSAGSWV ISSTVHQSCS VGIHASSSHG VILTDNVVFG TNGHGIDVEG QNYSLTNNLV
ILTMQSANSS PWVAGIKVNY AEDIILHGNV VAGSERLGFH VGGHGCSSEV LWSDNVVHSS
LHGLHLYKKH ESNNCTGVSG FMAFKNFDYG AMVQTENSVD IQNITLVDNT VGLLAITYVS
SALLSSVSTV QITLRNSVIV ATSSSFDCIH DRKAPQSANW TSTDRAPSNP RGGRIGILWP
VSASEPNAWP QEPWHKVRSH HSVPGIMKLQ DVTFSSFVKS CYSNDLDVCI LPNEYSTGVM
YPITAERTRM LGIKDKNKFY FPVLQSSKDL VGTICPTLVC EYPRKYLFTD LDGRTLGLPP
PVSVFPRTEE EWTGSFLNTG IFREEQKCTF RAMNQGFFCK QTEHAVLILD NVDATWTIPK
SHPLVSVTNG FVDTFSIVKD SDLCPPTSSL STFYSILPTR QMTKVCFPEQ TPPFLRFLLL
GNQRASKLIL AVFYNEIQSP HVFLDKSFIP PTSLESAFSL LAXPSGANYF DIMNNLLYVV
LQGEEPVEIH SSVSIHLALT VTFSVLEKGW ERAMLESLSD FFQIDPNQIR LTLEMPGNKE
TLEAIANSER KRKRNCPSVT CGGPSIRYGQ RRPLMAEMTS LKITPATTLE TFSKVIVIEV
GDLPNIRNSE PIQSLPSNRL QRLVNQVITA QQTGALENVL GMTVGALLVT QSKGVTGYRN
ASSLITGNLI YTRPSELSIL VQPSDGEVGI ELPVQPRLVF LDEKNERVES LGLPSEPWII
SVSLEGASES VLKGCTLAET RDGYVTFSRL AVLISGSNWH LFFTVISPPG TNFTARSRTF
VVLPVASKER STIILALSLC SVASWVALSC LVCCWFKKSK TRKIKPEDIS ESQAKEQKKN
THNSSKPRGL QAKTAKENTL MGEDMRMKVM QGMQSQFPQH SMDGVSKRKV SRLAVTEERT
TTPAPKIPRI TCVPGSLAQQ LTLQEPGNWQ EAQQQLLRYQ LAGRNQLLLL RPDLRQERKQ
GQEPSQLDKG SDCTGLSQEK ATCIPTETFS LHTAPPETIQ


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