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PKHD1, fibrocystin/polyductin

 G1SLE8_RABIT            Unreviewed;      4076 AA.
G1SLE8;
19-OCT-2011, integrated into UniProtKB/TrEMBL.
13-NOV-2013, sequence version 2.
12-SEP-2018, entry version 43.
SubName: Full=PKHD1, fibrocystin/polyductin {ECO:0000313|Ensembl:ENSOCUP00000003684};
Name=PKHD1 {ECO:0000313|Ensembl:ENSOCUP00000003684};
Oryctolagus cuniculus (Rabbit).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae;
Oryctolagus.
NCBI_TaxID=9986 {ECO:0000313|Ensembl:ENSOCUP00000003684, ECO:0000313|Proteomes:UP000001811};
[1] {ECO:0000313|Ensembl:ENSOCUP00000003684, ECO:0000313|Proteomes:UP000001811}
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=Thorbecke {ECO:0000313|Proteomes:UP000001811};
PubMed=21993624; DOI=10.1038/nature10530;
Lindblad-Toh K., Garber M., Zuk O., Lin M.F., Parker B.J.,
Washietl S., Kheradpour P., Ernst J., Jordan G., Mauceli E.,
Ward L.D., Lowe C.B., Holloway A.K., Clamp M., Gnerre S., Alfoldi J.,
Beal K., Chang J., Clawson H., Cuff J., Di Palma F., Fitzgerald S.,
Flicek P., Guttman M., Hubisz M.J., Jaffe D.B., Jungreis I.,
Kent W.J., Kostka D., Lara M., Martins A.L., Massingham T., Moltke I.,
Raney B.J., Rasmussen M.D., Robinson J., Stark A., Vilella A.J.,
Wen J., Xie X., Zody M.C., Baldwin J., Bloom T., Chin C.W., Heiman D.,
Nicol R., Nusbaum C., Young S., Wilkinson J., Worley K.C., Kovar C.L.,
Muzny D.M., Gibbs R.A., Cree A., Dihn H.H., Fowler G., Jhangiani S.,
Joshi V., Lee S., Lewis L.R., Nazareth L.V., Okwuonu G.,
Santibanez J., Warren W.C., Mardis E.R., Weinstock G.M., Wilson R.K.,
Delehaunty K., Dooling D., Fronik C., Fulton L., Fulton B., Graves T.,
Minx P., Sodergren E., Birney E., Margulies E.H., Herrero J.,
Green E.D., Haussler D., Siepel A., Goldman N., Pollard K.S.,
Pedersen J.S., Lander E.S., Kellis M.;
"A high-resolution map of human evolutionary constraint using 29
mammals.";
Nature 478:476-482(2011).
[2] {ECO:0000313|Ensembl:ENSOCUP00000003684}
IDENTIFICATION.
STRAIN=Thorbecke {ECO:0000313|Ensembl:ENSOCUP00000003684};
Ensembl;
Submitted (SEP-2011) to UniProtKB.
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EMBL; AAGW02018249; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018250; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018251; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018252; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018253; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018254; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018255; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018256; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018257; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AAGW02018258; -; NOT_ANNOTATED_CDS; Genomic_DNA.
STRING; 9986.ENSOCUP00000003684; -.
Ensembl; ENSOCUT00000004260; ENSOCUP00000003684; ENSOCUG00000004246.
eggNOG; ENOG410IEIF; Eukaryota.
eggNOG; ENOG410XQ01; LUCA.
GeneTree; ENSGT00780000121902; -.
InParanoid; G1SLE8; -.
OMA; WVAGIKV; -.
OrthoDB; EOG091G00JT; -.
TreeFam; TF329582; -.
Proteomes; UP000001811; Chromosome 12.
Bgee; ENSOCUG00000004246; Expressed in 2 organ(s), highest expression level in adult mammalian kidney.
GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
GO; GO:0005813; C:centrosome; IEA:Ensembl.
GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0072686; C:mitotic spindle; IEA:Ensembl.
GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
GO; GO:0006874; P:cellular calcium ion homeostasis; IEA:Ensembl.
GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
GO; GO:0001822; P:kidney development; IEA:Ensembl.
GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; IEA:Ensembl.
GO; GO:0051898; P:negative regulation of protein kinase B signaling; IEA:Ensembl.
GO; GO:0008284; P:positive regulation of cell proliferation; IEA:Ensembl.
GO; GO:0010824; P:regulation of centrosome duplication; IEA:Ensembl.
GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; IEA:Ensembl.
GO; GO:0032006; P:regulation of TOR signaling; IEA:Ensembl.
Gene3D; 2.160.20.10; -; 1.
Gene3D; 2.60.40.10; -; 6.
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; 8.
SMART; SM01225; G8; 2.
SMART; SM00429; IPT; 5.
SMART; SM00710; PbH1; 9.
SUPFAM; SSF51126; SSF51126; 3.
SUPFAM; SSF81296; SSF81296; 6.
PROSITE; PS51484; G8; 2.
PROSITE; PS51820; PA14; 1.
4: Predicted;
Complete proteome {ECO:0000313|Proteomes:UP000001811};
Membrane {ECO:0000256|SAM:Phobius};
Reference proteome {ECO:0000313|Proteomes:UP000001811};
Signal {ECO:0000256|SAM:SignalP};
Transmembrane {ECO:0000256|SAM:Phobius};
Transmembrane helix {ECO:0000256|SAM:Phobius}.
SIGNAL 1 24 {ECO:0000256|SAM:SignalP}.
CHAIN 25 4076 {ECO:0000256|SAM:SignalP}.
/FTId=PRO_5003422050.
TRANSMEM 3860 3883 Helical. {ECO:0000256|SAM:Phobius}.
DOMAIN 323 483 PA14. {ECO:0000259|PROSITE:PS51820}.
DOMAIN 1929 2050 G8. {ECO:0000259|PROSITE:PS51484}.
DOMAIN 2745 2873 G8. {ECO:0000259|PROSITE:PS51484}.
SEQUENCE 4076 AA; 446574 MW; A424C6549737A4D6 CRC64;
MTGWLISLMS IEVLLLAVPH LTLRIEPKEG SLAGGTWITV IFDGLETSVL YPTNGSQLKI
RLVNMVVPAL PSVPCDVFPV FLQLPVVKCQ TRSLLSETHE GLYSLEVHSE GQVLDNPSPV
SKDSCTFKFS KAQTPIVYHV NPSSGVPGNL IHVHGWIFTG KLETFDFDTE YIDSPLVLES
QRDRWVTPCS LVNRQTGSCY PIQEDHGLGT LQCRVEGDYI GSQNVSFSVF NKGKSMVHKN
AWLISAKQDL FLYQTHSEIL SVFPETGSIG GRTDVTITGD FFDNSAQVTI AGIPCDVRHV
SSRKIECTTR PPGKGARLTP PQAGNRGLLF EVADAAEGLE LTETTPGYRW QIVPNASSPI
RFWSKEGQPF RARLSGFFVA PETNNYTFWI QADSQASLHF SWSEEPRTQV KVASIRAGTA
DWFDSWEQNG DEGAWQQKTP KLKLLSGVQY YLEAEHVGIS PSKGMRIGVQ IHNTWLNPDV
VNTYLREKHQ IRARAQRLPE IQMLNVSGRG TFFLTWDNVS SQPIPANATA HQIQTTLEEL
LAVKCKLEPH SANILLRLGF EQGLEGYSSD GDPTTGTEPF CGRFSLRQPQ HLVLTPPAPQ
KSFRLDQYTH LCIAYKGHTS NILKMTVFFT LGLQNIVKNT TCDWSLPGIN PNSWQFTCEN
LWETCVHQFG DLQAHLANPP VLILQINLLP LAPEKGLLYV DEVIIADTNL TVSQEDSGIA
RPGGHLVESV SVTGSPPVYN ISLLAGCATE LPLITACSVP TNGTEEGAEL VQGTTQRLQR
TSPPLGGHFR IHLPNAVIPD VPVHISANYL QKLLQNNADN FTSRYLNVSD FTVKEDLNSC
YEHIWTLSWS TQIGDLPNFI RVSDEDLTGL DPVATTRVVY DGGVFLGPIF GDMLATANQH
PQVVVLVNDI PAHCPGNCSF QYLQESTPCM HSVWYSLDGD INLLVYISGT GFSGDSKSLQ
VTVNETSCKV VFSNQTNVVC QTDLLPVGVH QISMLVRPCG LAVSASGEGL FLNVEPRLDA
VEPSRAAEIG GIWATIRGSS LEGVSMVLFG SQSCAINVSA SNSRRIECKV PSRGNDGHTV
NVTVISGDYY AVLHSGFTFV PSLNPVILSL SRNQSSIAGG EALFIRMTQL VNYTDLDMQV
HIQDALAEIH AQTAQGLEVV LPALPTGLYG VSVSINGVNI CSQGVDLHIQ YITDVYSIQP
CCGSLMGGTI LSILGTGFSR DPASVWVLVG NRSCDVVNVT EVSVWCETSP APVRPDANAL
SVPAPVEVWA GSTSFTRGPS PQLVGKGFTF IYEAASTPVV TTMWGEITND SLMLYVQGNN
LSDAVILLGS LTCELETHSP GSRMNLSGCS FPLLSLEAGI YPLQVRQKQV GLADMSAVPQ
QFVVTPQITT ISPTQGSACG GTVLTVRGVA FHSRKRSVQV DLSGPFTCAI LSLGDHAIVC
QVTLIGDPLP GASFSLNVTV LVNGLRSACQ GNCTVFMWEE TTPTVDTLAT NTSGSLTTVV
MRGQRLGTAA DELLVFVDDQ LPCNVTFFNA SRVACQIGDL TPGRHYLSVF HARSGYTCFG
NISRYFHVMP QVIHYYPKNF SIYGGGLLAI EGTALRGQNT TFVYVGQQAC RMVTINAELI
CCTVPAGNGS ATLELEVDGL LYHVGAVGYS TAFTPELLSL SQTDDMVTFA VGRISGALNV
DIFIGTSPCV GVSGNHTILQ CTAPLLPAGQ YQVTGYDHTR GWASSVLVFT STVRISAVTE
NFGCLDGRLV HVFGAGFSPG NISAAVCGAP CQVLANATVS AFSCLVLPLD VSLAFLCDLK
PEEDSCEAAS LTYVRCDLTV AVGMERAPES WPYLYICAES FQSRLVPDHW TESAFPTWSG
LFISPKVERD EVLIYNSSCN ITMETEAKME CETPNQPITA KITEIRKSWG QNTQGNFSFQ
FCRRWSRAHS WYPERVPQDG DNVTVESGQV LLLDTNTSIL NLLHVKGGKL VFMDLGPIEL
RAHAILVSDG GELLIGSEAE PFQSRAQIKL YGSSYSSTFF PYGVKFLAVR NGTLSLHGLL
PEVLVTHLRA AAQAQDTVLA LEDAVDWHPG DEVVIISRAG VEGAKPMEEI VVVETVHNTD
LHLRSPLRYS HSFPENWEAG GYHVLKATVA LLSRNIIIQG NLTTERKRLL ASCQEINASE
GNLQNCLYSK SEKILGSRDL GAKVIIQSFK EEPSCVQLKG VQFRDMGQTF RRHLSSLTVV
GAVKDSYIQG CTVWRSFSRG LSLDSTWGLK VDNNVFYNIL GHALLVGTYI NIRPISWEAI
PGRKYDWSEK GNMIRNNVII RLSGAEGLSS SEMMTPSGIY VCSPTNVIEG NRVCAAGYGY
FFHLVTKRTS QAPLLSFSQN VAHSCTRCGL FVYPEFQPPW DNGSGPTLFQ NFTVWGSAGG
VQIFRSSNLH LKNLQVYECR DFGIDILESD ANTSVTDSLL VGHFTHKGSL CMSSGIKTPK
RWELMISNTT FANFDRISCV AIRTCSGCSQ GQGKLFEQIG PMANKANNQQ NMVSITFYHD
AAVSVLGSVF YRSRDHISLA QNLIIGKCLI SQSFFSLPPL SLCNSDIYFH FINQPRADAP
DVSYNLTLTD SRNKSTTVNY VVDTLSNLHG WMALLLDQET YSLRFENPWI HSSLQYSATF
DNFAHGNYLL LVHTDVPPYP DILIRCGSQV GRSLLSLPSP GQDQSCDWFF SSQLRQLTYL
VSGKGQIQVI LQVREGMPPT IAASTSVPES ALRWSNPETW QDIEEGWGGH NHSVPGPGDD
VLILPNRTVL VDTDLPALKG LYVLGTLEFP VDRSNVLSVA CMVIAGGELK VETGTLENPL
QKEQKLTILL RASEGVFCDR FNGIQIDPGI IGVYGKVQLH SAYTKKSWTH LGADIASGNE
RIIIEDAVDW KPHDKIVLSS TSYEPHEAEV LTVKEVKGYH VGIHERLKHR HIGSVHVIED
GRHISLAAEV GLLTRNIQIR PDTSCRGRLL VGFRKSDREE FSGVLQLLNV EIQNFGTPLY
SSIEFNNVSS GSWIMSSTVH QSCGGGIHAA ASHGIILKDN IVFGAAGHGI DLEGQAYSLT
NNLVILVTQS ALSTVWVAGI KVNQAKEIDL HGNVVAGSER LGFHIRGHRC SSPEVLWSDN
VAHSNLHGLH LYKEIGLDNC TSISGFLAFK NFDYGAMLHV ENSMEIENIT LVDNAIGLFV
VVYVSFVPQS SRQDVQIVLR DSDIVATSSS FDCIQDRVKP QTANMTFRDR APSNPRGGRV
GILWPAFTSQ PNQWPQEPWH KVRNGYSISG IMKLQADVTF SSFGKSCYSD DLDICILPNV
QNTGIMHPIT AERTRMLNMK DKNKFYFPPL HLRKDLERVI CMESGCENPR KYLFKDLDGN
TLNLPAPVSV FPKIEAEWTG SFFNTGTFRE KKKCTYQPLM QGFICKQTDQ VVLILDNADV
TWAIQKLYPV VSVTNGFVDT FSHINANPPC STFRSVSTFY SILPTGKITK VCFMDQTPEV
LQFFLLGNKS TSKLLLAVFY YELQSPHVFL RETFIPPTLG KSASSLLEES IGTNYFNIMD
NFLYVVLQGE EPIEIRSGVS LHLAFTVTFS VVENGWEIVI LERLTDFLHL HQNQIRIVHT
MPGNEGTLKA IADSRAKRKR NCPTVACASY YSRVGQRKPL MMEMSSSHKV SPPPTMETVS
TVIVIEIGDL PSVKNTGLIS SLSSNKLQNL AHQLIIAQQT GVLKNVLNIT TGALLVTQPK
GIIGSGNTSS FKTGNLIYIQ PCALSVLVQP SDGEVGKELP VQPQLVFLDE QNRRVESLGP
PSEPWTVLVS LEGTSDSVLK GYTLAETQDG YVSFSNLAVL ISGSNWHFIF TVTSPPGVNF
TARSRQFAVL PVTEKESSTI ILSASLCSVA SWLALICLVC CWFKKKKNRK TKPEEISESQ
ANDPKNHIQV SSKRQGSHVD TVKEDIVMGE GMRIIHMLGK LNQLAHQSLN GVSRRKVGRP
TAGQETTAVP VPSVTGITSH RHSCSPSSPA QQVYMQESGN WKEAQEQLLR YQLARQNQLL
LLCPDLKEGR QQLQGQSQLG KEGGSLGPSQ ETKTACDASV AVHLHSAHPD PMPEQL


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