Pkhd1
entrez
241035
canonical
uniprot
E9PZ36
canonical
ensembl
ENSMUSG00000043760
resolver
ensp
ENSMUSP00000085794
resolver
enst
ENSMUST00000088448
resolver
genesymbol
Pkhd1
resolver
uniprot
Q6T3A5
resolver
uniprot
Q8CIS7
resolver
uniprot_entry
PKHD1_MOUSE
resolver
uniprot_entry
Q6T3A5_MOUSE
resolver
uniprot_entry
Q8CIS7_MOUSE
resolver
amino_acid_sequence
MMLAWLVSLLSMEVLLLAKPYSSFQFEPAEGSLAGGTWITVVFDGLDRSILYPNNGSQLQIDLVSVAIPTLRIPCDVSPAFVDLPVVTCQTRSLPSEADAGPYSLEMRSGEQVLGTPCPGSLDSCTFKFSKDQTPVLYQVYPASGVPGEVVSVYGRVITTWLETFDPDVDYIESPLILEAREDKWLTPCSLINRQTGSCFPIQEEHGLGNVQCRVEGDYIGSQNVSFSVFNKGRSMVHKEAWLISAKQELFLYQTYPEILSVFPKVGSLGGRTDIIITGDFFDPSARVTIAGIPCDIRYVSPRKIECTTRAPGNEARLTAPQAGNRGLRFEVGDATKDVELTEATPGYRWQIVPNASSPSGFWSKEGRPFRARLSGFFVAPQTNNYTFWIQADSQASLCFSSSEEPRTKVEVASVGVGTADWFDSWEQIGNEGSWHQKTTKLELQGGAKYYLEAEQHGIAPSRGMRIGVQIHNTWLNPDVVNTYLLEKHQIRARAQRLPEIQVLHVSGKGNFFLTWGNVSSQPVPANATAQQIQTTIEELLVVKCNLAPFSAHVLLRLGFEQGLEGSRSDGVRTSSTEPFCGRFSLGQLGHLILIPEAADKGYQLDRYPYLCLAYRGHMNKTLDMTVSFLFGFQTIMKNITCDWSLTDPHPESWQFTCINLWDTCLCHSEDIQSSLANTPLLAHRIDIRPVVPEAGLLYVDEIILADTNVTVSQADSGRACPGGNVVESVSVVGVPPVYSISSWLAGCGSELPLITACSVSTEGTGDGSELIEVTAQRLQRTSPPLGGHFFLYLSDTVIPDVPVRMSARQLHKLLQDSADESTSGYLNAGDFTVTEDLNSCYEHVWTLSWTTQTGDLPNFIRVSDQNLTGVNPTVTARVVYDGGVFLGPIFGDMLATANQQTQVAVQVNDIPAYCSGSCSFQYQQESTPSVDHVWYSLGSDVNLLVHFTGTGFPRDTQFLQVTVNKTSCEVLFSNETNVACELALLPVGVHQIFMLVIPSGLAVHASGEDLLLHVEPRLDAVEPSTAAEIGGRWVTLRGSSLEGVSLVLFGTQSCVIDAIRSNSQQIQCKVPPRGKDGYTVNVTVISGDHSTVLARAFTYVSSLNPVIVSLSRNRSSIAGGEILFLGMSLLVNYTDLDVQIHVQDTSAQVLSQTAWGLEVVLPPLVPGIHVISAFINGVSIRSQGVDLYIQYLTEVFSVEPCSGSLLGGTLLSLLGTGLGRDPALIRVLVDNHPCDIVNLTEVNIWCETPPAVLPPRADVLTVLASVEIWAGNTSFFHGPSLVGKGFTFTYEAAATPVVTAMWGEFRNNSVRFYVEGSNISDSVILLGSLKCELEVQFFGDSMNLSGCFFPLHSLEAGVYTLQVRHKRMGFANMSVVPQKFELSPQIIAIFPTHGSKCGGTVLTVKGMAFSSRKRSVHVDISGPFACMILSLEDHTVLCQTRFVGDQFSEASLALNITVLVNGLTSKCKGNCTLFIEEAATPIVDALTISISGSLTMVLMRGRRLATTADEPIAFVDDQLPCHTTFFNTSHVACQIRDLAPGFHYLSAVHTSAGYACLNSVSRNFFIVPQVLDYFPKDFSIHGGSLLTIKGTALRGWKATVVYVGRQACLTVNFSSDFIQCIVPAGNGSAALEIDVNGVLYHIGLVDYSSIFTPELLSVSRSQDILTFTVARISGAANVDIFIGTSPCLGVAGNRTVLQCMVPLLPAGEYLVTGYDHSRGWASSTLILVLRATVTSVTKNYGCLGGRLLHVLGAGFSPGNISAAVCGAPCQVLANATVSAFSCLVLPLHVSLAFLCDLRHAEDSCKVRSSTYLRCDLTVSMGTERLPGSWPYVYLCEESSLCLFEPDHWTESVFPSFSGLFLSPKVERDEVLIYNSSCNITMETEAEMECEMPNQPITAKITEIQKSWGQNTQGNFSFQFCRRWSRPHSWFPQRVPHDGDSVTVETGHLLLLDANTSFLNSLHIKGGKLIFMDPGPIELRAHSILITDGGELHIGSEEKPFQGKARIKIYGSVHSTPFFPYGVKFLAVRNGTLSLHGSVPEVTVTYLQAAAHAGDKVLTLGEAVDWKPGDEAVITSGMTVAGAEATEVVVVETVHNADLHLRNPLRYSYDFRENWVAGENPILKPTVALLSRNIIIQGNFTLERVKLLNSCQEANTAKGNLKHCLYSKSEKMLGARDLGARVIIQSFPEEPSFVKLKGVQFRDLGQAFHKHLSSLALVGAMRGSYIQSCSVWNSFSRGLSMHRTWGLKVDSNVFYKIVGHALLLGSYLDGRFSTSETVTGRKNGWWEQGSTIRNNVIISVSAAEGLSGSEMLAPAGIYTFSPTNVMEGNRVCAAGYGYVFHLVTSQTLQAPLLSFNWNTAHSCTRYGLLVYPKFQPPWNNDTGFTLFQNFMVWGSAGGAQIFRSNNLHLKNFQVYACRDFGIDILESDANTLITDSFLLGHFTHKGSLCMSAGIKTPQRWELTISNTTFVNFDGNCVAIRTCSGCFQGQGGYTVKTRQLKFVNSSNLVAFPFPHAAVLEDLDGSLSGKNGSHVLASMETLSDTCLTNASFSQIVPGSVCGEAVLFHRMSIALANSLDVPKNLTITDISNKTITVNYVEDTLSNYYGWMALLLDQETYSLQFESPWMNRSLQYSATFDSFAPGNYLLIMHRDLPPYPDILLRCGSQVGHSLPFHPLPSQDRACDWFFNRQLRQLTYLVSGEGQVKVFLQLKPGVPPSVSASTSVPESASRWSLPETWQDVEKGWGGYNHTIPGPGDDVLILPNKTVLVDTDLPVLRCLYVMGTLEFPVDRSNVLSVACLLIAGGELKVGTLENPLEKDQRLLIFLRASEEVVCDYFEGIHVDPGTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVDWQPHDTIVLSSSSYEAHEAEVLTVKEVKGHHIRIYERLKHRHIGSTHTMEDGQQVHLAAEVGLLTRNIRIQPDSSCRGRLLVGSFRKSSGEDFSGVLQLLNVEIQNMGLPLYSSIEFTGVSAGSWVISSTVHQSCSVGIHASSSHGVILTDNVVFGTNGHGIDVEGQNYSLTNNLVILTMQSANSSPWVAGIKVNYAEDIILHGNVVAGSERLGFHVGGHGCSSEVLWSDNVVHSSLHGLHLYKKHESNNCTGVSGFMAFKNFDYGAMVQTENSVDIQNITLVDNTVGLLAITYVSSALLSSVSTVQITLRNSVIVATSSSFDCIHDRKAPQSANWTSTDRAPSNPRGGRIGILWPVSASEPNAWPQEPWHKVRSRHSVPGIMKLQDVTFSSFVKSCYSNDLDVCILPNEYSTGVMYPITAERTRMLGIKDKNKFYFPVLQSSKDLVGTICPTLVCEYPRKYLFTDLDGRTLGLPPPVSVFPRTEEEWTGSFLNTGIFREEQKCTFRAMNQGFFCKQTEHAVLILDNVDATWTIPKSHPLVSVTNGFVDTFSIVKDSDLCPPTSSLSTFYSILPTRQMTKVCFPEQTPPFLRFLLLGNQRASKLILAVFYNEIQSPHVFLDKSFIPPTPLESAFSLLAEPSGANYFDIMNNLLYVVLQGEEPVEIHSSVSIHLALTVTFSVLEKGWERAMLESLSDFFQIDPNQIRLTLEMPGNKETLEAIANSERKRKRNCPSVTCGGPSIRYGQRRPLMAEMTSLKITPATTLETFSKVIVIEVGDLPNIRNSEPIQSLPSNRLQRLVNQVITAQQTGALENVLGMTVGALLVTQSKGVTGYRNASSLITGNLIYTRPSELSILVQPSDGEVGIELPVQPRLVFLDEKNERVESLGLPSEPWIISVSLEGASESVLKGCTLAETRDGYVTFSRLAVLISGSNWHLFFTVISPPGTNFTARSRTFVVLPVASKERSTIILALSLCSVASWVALSCLVCCWFKKSKTRKIKPEDISESQAKEQKKNTHNSSKPRGLQAKTAKENTLMGEDMRMKVMQGMQSQFPQHSMDGVSKRKVSRLAVTEERTTTPAPKIPRITCVPGSLAQQLTLQEPGNWQEAQQQLLRYQLAGRNQLLLLRPDLRQERKQGQEPSQLDKGSDCTGLSQEKATCIPTETFSLHTAPPETIQ
uniprot
proteins
function
FUNCTION: Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/or ensures the maintenance of the architecture of the lumen of the kidney (PubMed:18235088, PubMed:20875407). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:19959710). During epithelial cell morphogenesis, it also regulates cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (PubMed:20875407). May act in collecting-duct and biliary differentiation (By similarity). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (By similarity). {ECO:0000250|UniProtKB:E2RK30, ECO:0000250|UniProtKB:P08F94, ECO:0000269|PubMed:18235088, ECO:0000269|PubMed:19959710, ECO:0000269|PubMed:20875407}.
uniprot
proteins
mass_dalton
444882
uniprot
proteins
mutagenesis
MUTAGEN 3869; /note="C->A: Almost completely blocks the ability to traffic to the cilia; when associated with 3872-A-A-3873. Affects palmitoylation; when associated with 3872-A-A-3873. Disrupts interaction with RAB8A; when associated with 3872-A-A-3873. Disrupts interaction with ARF4; when associated with 3872-A-A-3873."; /evidence="ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:24586199"; MUTAGEN 3870..3871; /note="LV->AA: Little affects the ability to traffic to the cilia. Does not affect interaction with RAB8A. Does not affect interaction with ARF4."; /evidence="ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:24586199"; MUTAGEN 3872..3873; /note="CC->AA: Almost completely blocks the ability to traffic to the cilia; when associated with A-3869. Affetcs palmitoylation; when associated with A-3869. Disrupts interaction with RAB8A; when associated with A-3869. Disrupts interaction with ARF4; when associated with A-3869."; /evidence="ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:24586199"; MUTAGEN 3874..3875; /note="WF->AA: Reduces the ability to traffic to the cilia. Reduces interaction with RAB8A."; /evidence="ECO:0000269|PubMed:20048263"; MUTAGEN 3876..3878; /note="KKS->AAA: Reduces the ability to traffic to the cilia."; /evidence="ECO:0000269|PubMed:20048263"; MUTAGEN 3879..3885; /note="KTRKIKP->AAAAAAA: Prevents ciliary localizytion."; /evidence="ECO:0000269|PubMed:28154160"; MUTAGEN 3879..3882; /note="KTRK->AAAA: Almost completely blocks the ability to traffic to cilia. Disrupts interaction with RAB8A. Disrupts interaction with ARF4."; /evidence="ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:24586199"; MUTAGEN 3883..3885; /note="IKP->AAA: Reduces the ability to traffic to the cilia. Reduces interaction with RAB8A. Does not affect interaction with ARF4."; /evidence="ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:24586199
uniprot
proteins
post_translational_modification
PTM: Palmitoylated (PubMed:20048263). Palmitoylation facilitates the trafficking to the cilia and membrane targeting (PubMed:20048263). {ECO:0000269|PubMed:20048263}.; PTM: N-glycosylated. {ECO:0000269|PubMed:22021705, ECO:0000269|PubMed:28729032}.; PTM: Several proteolytic cleavages occur within the extracellular domain, whereas at least one cleavage occurs within the cytoplasmic domain (PubMed:16956880). Cleaved by a probable proprotein convertase which produces an extracellular domain (polyductin extracellular domain, (PECD)) and a C-terminal fragment (polyductin transmembrane fragment (PTM)) which are tethered together by disulfide bonds (PubMed:17470460, PubMed:28729032). This extracellular domain (PECD) is then shed from the primary cilium by activation of a member of the ADAM metalloproteinase disintegrins family, resulting in concomitant release of an intra-cellular C-terminal fragment (ICD) via a gamma-secretase-dependent process (PubMed:17470460, PubMed:28729032). The proteolytic cleavage of the C-terminal intracellular fragment (ICD) is controlled by cytosolic calcium concentration and activation of PKC (PubMed:16956880). {ECO:0000269|PubMed:16956880, ECO:0000269|PubMed:17470460, ECO:0000269|PubMed:28729032}.
uniprot
proteins
pubmed
16243292
uniprot
proteins
pubmed
16956880
uniprot
proteins
pubmed
17470460
uniprot
proteins
pubmed
18202188
uniprot
proteins
pubmed
18235088
uniprot
proteins
pubmed
18286309
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
19959710
uniprot
proteins
pubmed
20048263
uniprot
proteins
pubmed
20875407
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
22021705
uniprot
proteins
pubmed
24586199
uniprot
proteins
pubmed
28154160
uniprot
proteins
pubmed
28729032
uniprot
proteins
sequence_length
4059
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P08F94}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:P08F94}. Apical cell membrane {ECO:0000269|PubMed:18202188}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P08F94}. Cell projection, cilium {ECO:0000269|PubMed:17470460, ECO:0000269|PubMed:18202188, ECO:0000269|PubMed:20048263, ECO:0000269|PubMed:22021705, ECO:0000269|PubMed:28154160}. Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:P08F94}. Chromosome, centromere {ECO:0000250|UniProtKB:P08F94}. Nucleus {ECO:0000269|PubMed:16956880}. Secreted, extracellular exosome {ECO:0000269|PubMed:22021705, ECO:0000269|PubMed:28729032}. Secreted {ECO:0000269|PubMed:22021705, ECO:0000269|PubMed:28729032}. Endoplasmic reticulum {ECO:0000269|PubMed:28729032}. Golgi apparatus {ECO:0000269|PubMed:28729032}. Note=The intra-cellular C-terminal fragment (ICD) translocates to the nucleus and is not detected in primary cilia (PubMed:16956880, PubMed:28729032). The extracellular domain (PECD) traffics beyond the mid-Golgi and localizes on exosome like vesicles (ELVs) attached to the primary cilium (PubMed:22021705, PubMed:28729032). In the urine, the extracellular domain (PECD) exists as a highly abundant secreted form and a less abundant PECD form that is either tethered to or shed with the C-terminal fragment (PTM) in ELVs (PubMed:28729032). The majority of full length PKHD1 protein resides at the endoplasmic reticulum and cannot pass beyond the mid-Golgi apparatus and is not detected in primary cilia (PubMed:28729032). {ECO:0000269|PubMed:16956880, ECO:0000269|PubMed:22021705, ECO:0000269|PubMed:28729032}.
uniprot
proteins
transmembrane_region
TRANSMEM 3852..3872; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins