PKHD1_HUMAN » Fibrocystin

PKHD1_HUMAN » Fibrocystin
Magnify PKHD1_HUMAN » FibrocystinEnlarged view of image
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
PKHD1_HUMAN » Fibrocystin » Polycystic kidney and hepatic disease 1 protein;Polyductin;Tigmin;
Hydrophobic Thickness 34.0 ± 4.6 Å
Tilt Angle 32 ± 2°
ΔGtransfer -15.0 kcal/mol
ΔGfold -11.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 3854-3882 (3853-3888)
Pathways none
PDB none
OPM none
Complexes none
Interactions

CADH5, Complex: CADH5:PARD3.PKHD1, PubMed

JAM1, Complex: JAM1:PARD3.PKHD1, PubMed

JAM2, Complex: JAM2:PARD3.PKHD1, PubMed

JAM3, Complex: PARD3.PKHD1:JAM3, PubMed

Domains

AA: 259-340, PDBID: 2UZY, Subunit B, Seq Identity:30%, IPT/TIG domain

AA: 931-1010, PDBID: 4QT8, Subunit B, Seq Identity:19%, IPT/TIG domain

AA: 1019-1102, PDBID: 3MLP, Subunit E, Seq Identity:26%, IPT/TIG domain

AA: 1108-1192, PDBID: 2UZY, Subunit B, Seq Identity:19%, IPT/TIG domain

AA: 1389-1479, PDBID: 2UZY, Subunit B, Seq Identity:25%, IPT/TIG domain

AA: 1486-1569, PDBID: 1UAD, Subunit D, Seq Identity:21%, IPT/TIG domain

AA: 1573-1658, PDBID: 2UZY, Subunit B, Seq Identity:29%, IPT/TIG domain

AA: 1933-2052, G8 domain

AA: 2242-2419, PDBID: 4MR0, Subunit B, Seq Identity:14%, Right handed beta helix region

AA: 2742-2872, G8 domain

AA: 3002-3177, PDBID: 1RU4, Subunit A, Seq Identity:13%, Right handed beta helix region

UniProt annotation for PKHD1_HUMAN » Fibrocystin
FUNCTION: May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.

TISSUE SPECIFICITY: Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain.

DISEASE: Polycystic kidney disease, autosomal recessive (ARPKD) OMIM: A severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for PKHD1_HUMAN » Fibrocystin
SIGNAL 1 23 Potential.
CHAIN 24 4074 Fibrocystin.
DOMAIN 24 111 IPT/TIG 1; atypical.
DOMAIN 137 232 IPT/TIG 2.
DOMAIN 259 335 IPT/TIG 3.
DOMAIN 931 1015 IPT/TIG 4.
DOMAIN 1019 1103 IPT/TIG 5.
DOMAIN 1108 1192 IPT/TIG 6; atypical.
DOMAIN 1196 1289 IPT/TIG 7.
DOMAIN 1301 1382 IPT/TIG 8; atypical.
DOMAIN 1389 1481 IPT/TIG 9.
DOMAIN 1486 1570 IPT/TIG 10.
DOMAIN 1573 1659 IPT/TIG 11.
DOMAIN 1658 1742 IPT/TIG 12; atypical.
DOMAIN 1932 2053 G8 1.
REPEAT 2226 2248 PbH1 1.
REPEAT 2249 2271 PbH1 2.
REPEAT 2292 2325 PbH1 3.
REPEAT 2326 2347 PbH1 4.
REPEAT 2409 2431 PbH1 5.
REPEAT 2469 2502 PbH1 6.
DOMAIN 2747 2873 G8 2.
REPEAT 3010 3032 PbH1 7.
REPEAT 3033 3055 PbH1 8.
REPEAT 3086 3108 PbH1 9.
Amino Acid Sequence for PKHD1_HUMAN » Fibrocystin
MTAWLISLMS IEVLLLAVRH LSLHIEPEEG SLAGGTWITV IFDGLELGVL YPNNGSQLEI HLVNVNMVVP ALRSVPCDVF PVFLDLPVVT CRTRSVLSEA HEGLYFLEAY FGGQLVSSPN PGPRDSCTFK FSKAQTPIVH QVYPPSGVPG KLIHVYGWII TGRLETFDFD AEYIDSPVIL EAQGDKWVTP CSLINRQMGS CYPIQEDHGL GTLQCHVEGD YIGSQNVSFS VFNKGKSMVH KKAWLISAKQ DLFLYQTHSE ILSVFPETGS LGGRTNITIT GDFFDNSAQV TIAGIPCDIR HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY RWQIVPNASS PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL HFSWSEEPRT KVKVASISVG TADWFDSWEQ NRDEGTWQQK TPKLELLGGA MYYLEAEHHG IAPSRGMRIG VQIHNTWLNP DVVTTYLREK HQIRVRAQRL PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTTIE ELLAVKCKLE PLWSNILLRL GFERGPEVSN SDGDLTSGTE PFCGRFSLRQ PRHLVLTPPA AQKGYRLDQY THLCLAYKGH MNKILKMIVS FTIGFQNMVK NTTCDWSLTR TSPESWQFDC TDLWETCVRC FGDLQPPPAN SPVLVHQINL LPLAQETGLF YVDEIIIADT NVTVSQADSG TARPGGNLVE SVSVVGSPPV YSVTSWLAGC GTELPLITAR SVPTEGTEEG SGLVLVTTQR RQRTSPPLGG HFRIQLPNTV ISDVPVQISA HHLHQLLQNN ADDFTSRYLN ASDFTVKEDL YTCYEHVWTL SWSTQIGDLP NFIRVSDENL TGVNPAAATR VVYDGGVFLG PIFGDMLATA NQHTQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI TGTGFSGDSQ FLQVTVNKTS CKVIFSNQTN VVCQTDLLPV GMHRILMLVR PSGLAISATG EDLFLNVKPR LDMVEPSRAA DIGGLWATIR GSSLEGVSLI LFGSYSCAIN VATSNSSRIQ CKVPPRGKDG RIVNVTVIRG DYSAVLPRAF TYVSSLNPVI VTLSRNISNI AGGETLVIGV ARLMNYTDLD VEVHVQDALA PVHTQSAWGL EVALPPLPAG LHRISVSING VSIHSQGVDL HIQYLTEVFS IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEASIWCE TLPAPQIPDA GAPTVPAAVE VWAGNRFFAR GPSPSLVGKG FTFMYEAAAT PVVTAMQGEI TNSSLSLHVG GSNLSNSVIL LGNLNCDVET QSFQGNVSLS GCSIPLHSLE AGIYPLQVRQ KQMGFANMSV VLQQFAVMPR IMAIFPSQGS ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT ILCQVSLEGD PLPGASFSLN VTVLVNGLTS ECQGNCTLFI REEASPVMDA LSTNTSGSLT TVLIRGQRLA TTADEPMVFV DDQLPCNVTF FNASHVVCQT RDLAPGPHYL SVFYTRNGYA CSGNVSRHFY IMPQVFHYFP KNFSLHGGSL LTIEGTGLRG QNTTSVYIDQ QTCLTVNIGA ELIRCIVPTG NGSVALEIEV DGLWYHIGVI GYNKAFTPEL ISISQSDDIL TFAVAQISGA ANIDIFIGMS PCVGVSGNHT VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA VTENFGCLGG RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC GLKREEDSCE AARHTYVQCD LTVAMATEQL LESWPYLYIC EESSQCLFVP DHWAESMFPS FSGLFISPKL ERDEVLIYNS SCNITMETEA EMECETPNQP ITVKITEIRK RWGQNTQGNF SLQFCRRWSR THSWFPERLP QDGDNVTVEN GQLLLLDTNT SILNLLHIKG GKLIFMAPGP IELRAHAILV SDGGELRIGS EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH GSLPEVIVTC LRATAHALDT VLALEDAVDW NPGDEVVIIS GTGVKGAKPM EEIVTVETVQ DTDLYLKSPL RYSHNFTENW VAGEHHILKA TVALLSRSIT IQGNLTNERE KLLVSCQEAN APEGNLQHCL YSMSEKMLGS RDMGARVIVQ SFPEEPSQVQ LKGVQFQVLG QAFHKHLSSL TLVGAMRESF IQGCTVRNSF SRGLSMCGTL GLKVDSNVFY NILGHALLVG TCTEMRYISW EAIHGRKDDW SGHGNIIRNN VIIQVSGAEG LSNPEMLTPS GIYICSPTNV IEGNRVCGAG YGYFFHLMTN QTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES AGGAQIFRSS NLRLKNFKVY SCRDFGIDVL ESDANTSVTD SLLLGHFAHK GSLCMSSGIK TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV KTSQLKFTNS SNLVAFPFPH AAILEDLDGS LSGKNRSHIL ASMETLSASC LVNSSFGRVV HGSACGGGVL FHRMSIGLAN TPEVSYDLTM TDSRNKTTTV NYVRDTLSNP RGWMALLLDQ ETYSLQSENL WINRSLQYSA TFDNFAPGNY LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG GYNNTIPGPG DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS VACMVIAGGE LKVGTLENPL EKEQKLLILL RASEGVFCDR MNGIHIDPGT IGVYGKVHLY SAYPKNSWTH LGADIASGNE RIIVEDAVDW RPHDKIVLSS SSYEPHEAEV LTVKEVKGHH VRIYERLKHR HIGSVHVTED GRHIRLAAEV GLLTRNIQIQ PDVSCRGRLF VGSFRKSSRE EFSGVLQLLN VEIQNFGSPL YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTAGHG IDLEGQAYTV TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE RLGFHIRGHK CSSCELLWSD NVAHSSLHGL HLYKESGLDN CTRISGFLAF KNFDYGAMLH VENSVEIENI TLVDNTIGLL AVVYVFSAPQ NSVKKVQIVL RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR IGILWPVFTS EPNQWPQEPW HKVRNDHSIS GIMKLQDVTF SSFVKSCYSD DLDVCILPNA ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCASPR KYLFKDLDGR ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYQFLM QGFICKQTDQ VVLILDSADA IWAIQKLYPV VSVTSGFVDV FSSVNANIPC STSGSVSTFY SILPIRQITK VCFMDQTPQV LRFFLLGNKS TSKLLLAVFY HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD NLLYVVLQGE EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GQNQIRFIHE MPGHEETLKA IADSRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSHRAS PPMTVETISK VIVIEIGDSP TVRSTGMISS LSSNKLQNLA HRVITAQQTG VLENVLNMTI GALLVTQSKG VIGYGNTSSF KTGNLIYIRP YALSILVQPS DGEVGNELPV QPQLVFLDEQ NRRVESLGPP SEPWTISASL EGASDSVLKG CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT ARSKPFAVLP VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT NNQNIHIHIS SKRRESQGPK KEDTVVGEDM RMKVMLGKVN QCPHQLMNGV SRRKVSRHIV REEEAAVPAP GTTGITSHGH ICAPGAPAQQ VYLQETGNWK EGQEQLLRYQ LAGQNQLLLL CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK KASCGATEAF CLHSVHPETI QEQL