{ "uniprot_canonical_ac": "A2A259-1", "ptm_annotation": [ { "annotation": "Palmitoylation is important for expression at the cell membrane and for channel activity.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/Q9P0L9", "id": "Q9P0L9", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2A259-1|PK2L1_MOUSE Isoform 1 of Polycystic kidney disease 2-like 1 protein OS=Mus musculus OX=10090 GN=Pkd2l1 PE=1 SV=1 CANONICAL=A2A259-1", "length": 760, "sequence": "MNSMESPKNQELQTLGNRAWDNPAYSDPPSPNRTLRICTVSSVALPETQPKKPEVRCQEKTQRTLVSSCCLHICRSIRGLWGTTLTENTAENRELYVKTTLRELVVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDSGVSFQTISSMSDFWDFAQGPLLDSLYWTKWYNNQSLGRGSHSFIYYENLLLGAPRLRQLRVRNDSCVVHEDFREDILNCYDVYSPDKEDQLPFGPQNGTAWTYHSQNELGGSSHWGRLTSYSGGGYYLDLPGSRQASAEALQGLQEGLWLDRGTRVVFIDFSVYNANINLFCILRLVVEFPATGGTIPSWQIRTVKLIRYVNNWDFFIVGCEVVFCVFIFYYVVEEILEIHLHRLRYLSSVWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQQPDTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAIMFFIVFFAYAQLGYLLFGTQVENFSTFVKCIFTQFRIILGDFDYNAIDNANRILGPVYFVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDQLQLSDFLKQSYNKTLLRLRLRKERVSDVQKVLKGGEPEIQFEDFTSTLRELGHEEHEITAAFTRFDQDGDHILDEEEQEQMRQGLEEERVTLNAEIENLGRSVGHSPPGELGAEAARGQSWVSGEEFDMLTRRVLQLQCVLEGVVSQIDAVGSKLKMLERKGELAPSPGMGEPAVWENLYNPS" }, "uniprot_id": "PK2L1_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported.uniprotkb_gly", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15548533", "type": [ "PubMed" ], "id": "15548533" } ], "title": "Genomic organization and functional analysis of murine PKD2L1.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "authors": "Ito H., Watanabe H., Murakami M., Ono K., Xu F., Miyoshi I., Iijima T., Ohba T., Shida S., Satoh E.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16460286", "type": [ "PubMed" ], "id": "16460286" } ], "title": "An introduction to TRP channels.", "journal": "Annual review of physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "authors": "Ramsey IS, Delling M, Clapham DE", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16805797", "type": [ "PubMed" ], "id": "16805797" } ], "title": "Two members of the TRPP family of ion channels, Pkd1l3 and Pkd2l1, are co-expressed in a subset of taste receptor cells.", "journal": "Journal of neurochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "authors": "LopezJimenez ND, Cavenagh MM, Sainz E, Cruz-Ithier MA, Battey JF, Sullivan SL", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16891422", "type": [ "PubMed" ], "id": "16891422" } ], "title": "Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "authors": "Kubota M., Tominaga M., Inada H., Zhuang H., Matsunami H., Ishimaru Y.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16929298", "type": [ "PubMed" ], "id": "16929298" } ], "title": "The cells and logic for mammalian sour taste detection.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Chen X., Guo W., Huang A.L., Chandrashekar J., Hoon M.A., Ryba N.J., Zuker C.S., Trankner D.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18156604", "type": [ "PubMed" ], "id": "18156604" } ], "title": "The candidate sour taste receptor, PKD2L1, is expressed by type III taste cells in the mouse.", "journal": "Chem. Senses", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Yang R., Kataoka S., Sevigny J., Matsunami H., Ishimaru Y., Finger T.E., Kinnamon J.C.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18535624", "type": [ "PubMed" ], "id": "18535624" } ], "title": "Off-response property of an acid-activated cation channel complex PKD1L3-PKD2L1.", "journal": "EMBO Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Tominaga M., Inada H., Fushiki T., Matsunami H., Ishimaru Y., Kawabata F.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19464260", "type": [ "PubMed" ], "id": "19464260" } ], "title": "Acetic acid activates PKD1L3-PKD2L1 channel--a candidate sour taste receptor.", "journal": "Biochem. Biophys. Res. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Abe K., Ishii S., Misaka T., Kishi M., Ishimaru Y., Kaga T.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19833970", "type": [ "PubMed" ], "id": "19833970" } ], "title": "The taste of carbonation.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Oka Y., Sly W., Chandrashekar J., Ryba N.J., Zuker C.S., Yarmolinsky D., von Buchholtz L.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20406802", "type": [ "PubMed" ], "id": "20406802" } ], "title": "Activation of polycystic kidney disease-2-like 1 (PKD2L1)-PKD1L3 complex by acid in mouse taste cells.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Maruyama Y., Yanagawa Y., Murakami S., Kawaguchi H., Uchida K., Tominaga M., Yamanaka A., Sokabe T., Shibasaki K.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20538909", "type": [ "PubMed" ], "id": "20538909" } ], "title": "Interaction between PKD1L3 and PKD2L1 through their transmembrane domains is required for localization of PKD2L1 at taste pores in taste cells of circumvallate and foliate papillae.", "journal": "FASEB J.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Abe K., Yamamoto K., Misaka T., Asakura T., Matsunami H., Akiba M., Ishimaru Y., Katano Y., Roberts R.W.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21098668", "type": [ "PubMed" ], "id": "21098668" } ], "title": "A proton current drives action potentials in genetically identified sour taste cells.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Liman E.R., Chang R.B., Waters H.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21185261", "type": [ "PubMed" ], "id": "21185261" } ], "title": "The single pore residue Asp523 in PKD2L1 determines Ca2+ permeation of the PKD1L3/PKD2L1 complex.", "journal": "Biochem. Biophys. Res. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Abe K., Misaka T., Asakura T., Ishimaru Y., Katano Y., Fujimoto C., Yamasoba T.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21625513", "type": [ "PubMed" ], "id": "21625513" } ], "title": "Sour taste responses in mice lacking PKD channels.", "journal": "PLoS ONE", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Yanagawa Y., Ninomiya Y., Yoshida R., Matsunami H., Ishimaru Y., Horio N., Yasumatsu K.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22420714", "type": [ "PubMed" ], "id": "22420714" } ], "title": "The response of PKD1L3/PKD2L1 to acid stimuli is inhibited by capsaicin and its pungent analogs.", "journal": "FEBS J.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Ishii S., Misaka T., Kishi M., Okada S., Ishimaru Y., Kurokawa A., Yamagami K.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24336288", "type": [ "PubMed" ], "id": "24336288" } ], "title": "Primary cilia are specialized calcium signalling organelles.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Clapham D.E., Delling M., DeCaen P.G., Doerner J.F., Febvay S.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24336289", "type": [ "PubMed" ], "id": "24336289" } ], "title": "Direct recording and molecular identification of the calcium channel of primary cilia.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Clapham D.E., Delling M., DeCaen P.G., Vien T.N.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25820328", "type": [ "PubMed" ], "id": "25820328" } ], "title": "A novel PKD2L1 C-terminal domain critical for trimerization and channel function.", "journal": "Sci. Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Huang J., Tang J., Yang J., Zhang F., Cao Y., Zeng H., Zheng W., Chen X.Z., Hussein S., Fernandez-Patron C., Hernandez-Anzaldo S.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28553944", "type": [ "PubMed" ], "id": "28553944" } ], "title": "The cellular mechanism for water detection in the mammalian taste system.", "journal": "Nat. Neurosci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Oka Y., Wennemuth G., Zocchi D.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28904867", "type": [ "PubMed" ], "id": "28904867" } ], "title": "The asparagine 533 residue in the outer pore loop region of the mouse PKD2L1 channel is essential for its voltage-dependent inactivation.", "journal": "FEBS Open Bio", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "authors": "Shimizu T., Higuchi T., Fujii T., Sakai H., Nilius B., Ohno C., Toba T.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "type": [ "PubMed" ], "id": "29567962" } ], "title": "Cryo-EM structure of the polycystic kidney disease-like channel PKD2L1.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "authors": "Liu X., Liu Y., Su Q., Zhang Y., Yan C., Zhou Q., Wang T., Yu S., Hu F., Ge X., Shen A., Lei J., Mei C.", "date": "2018" } ], "uniprot_ac": "A2A259", "site_annotation": [ { "end_pos": 179, "annotation": "n_glycosylation_sequon", "start_pos": 177 }, { "end_pos": 209, "annotation": "n_glycosylation_sequon", "start_pos": 207 }, { "end_pos": 243, "annotation": "n_glycosylation_sequon", "start_pos": 241 }, { "end_pos": 34, "annotation": "n_glycosylation_sequon", "start_pos": 32 }, { "end_pos": 462, "annotation": "n_glycosylation_sequon", "start_pos": 460 }, { "end_pos": 507, "annotation": "n_glycosylation_sequon", "start_pos": 505 }, { "end_pos": 563, "annotation": "n_glycosylation_sequon", "start_pos": 561 }, { "end_pos": 591, "annotation": "n_glycosylation_sequon", "start_pos": 589 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A259#A2A259-1", "isoform_ac": "A2A259-1", "locus": { "end_pos": 44148510, "strand": "+", "start_pos": 44192274, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000042026", "id": "ENSMUST00000042026", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000045675", "id": "ENSMUSP00000045675", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A259-1|PK2L1_MOUSE Isoform 1 of Polycystic kidney disease 2-like 1 protein OS=Mus musculus OX=10090 GN=Pkd2l1 PE=1 SV=1 CANONICAL=A2A259-1", "length": 760, "sequence": "MNSMESPKNQELQTLGNRAWDNPAYSDPPSPNRTLRICTVSSVALPETQPKKPEVRCQEKTQRTLVSSCCLHICRSIRGLWGTTLTENTAENRELYVKTTLRELVVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDSGVSFQTISSMSDFWDFAQGPLLDSLYWTKWYNNQSLGRGSHSFIYYENLLLGAPRLRQLRVRNDSCVVHEDFREDILNCYDVYSPDKEDQLPFGPQNGTAWTYHSQNELGGSSHWGRLTSYSGGGYYLDLPGSRQASAEALQGLQEGLWLDRGTRVVFIDFSVYNANINLFCILRLVVEFPATGGTIPSWQIRTVKLIRYVNNWDFFIVGCEVVFCVFIFYYVVEEILEIHLHRLRYLSSVWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQQPDTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAIMFFIVFFAYAQLGYLLFGTQVENFSTFVKCIFTQFRIILGDFDYNAIDNANRILGPVYFVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDQLQLSDFLKQSYNKTLLRLRLRKERVSDVQKVLKGGEPEIQFEDFTSTLRELGHEEHEITAAFTRFDQDGDHILDEEEQEQMRQGLEEERVTLNAEIENLGRSVGHSPPGELGAEAARGQSWVSGEEFDMLTRRVLQLQCVLEGVVSQIDAVGSKLKMLERKGELAPSPGMGEPAVWENLYNPS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:329064", "resource": "KEGG Pathway", "id": "mmu:329064", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "annotation": "PKD2L1 deficiency increased p300-mediated acetylation of histone 3 lysine 27 on the promoter of sodium/calcium exchange 1 (NCX1) by repressing AMP-activated protein kinase (AMPK) activity, resulting in NCX1 overexpression and mitochondrial Ca(2+) overload.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "annotation": "PKD2L1 forms functional cation channels on the plasma membrane by interacting with PKD1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "annotation": "Pkd1l3 and Pkd2l1 are co-expressed in a select subset of taste receptor cells and therefore may, like other PKD channels, function as a heteromer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2A259#function", "annotation": "Pore-forming subunit of a heteromeric, non-selective cation channel that is permeable to Ca(2+) (PubMed:16891422, PubMed:15548533, PubMed:19464260, PubMed:20538909, PubMed:21185261, PubMed:22420714, PubMed:25820328, PubMed:28904867, PubMed:29567962). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336288, PubMed:24336289). The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336288). Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:16891422, PubMed:16929298, PubMed:20406802, PubMed:21098668, PubMed:21625513). The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:18535624, PubMed:19464260, PubMed:20538909, PubMed:20406802, PubMed:22420714, PubMed:28904867, PubMed:29567962). May play a role in the perception of carbonation taste (PubMed:19833970). May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (PubMed:28553944).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259#function", "id": "A2A259", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "annotation": "The pore helix and transmembrane segment 6 of PKD2L1 are involved in upper and lower-gate opening, adopt an open conformation. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "annotation": "These results suggest that PKD1L3 and PKD2L1 heteromers may function as sour taste receptors.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZDT6-1", "protein_name": "Polycystin 2-like 1, transient receptor potential cation channel", "sequence": { "length": 676, "sequence": "MNIMENSKEQELQTLGSRVWDNPAYSSPPSPNGTPRICTVSSVALPETQPKKPEVRRQEKTPRVPVSGCCLLICRGIRGLWGTTLTENTAENRELYVKTTLRELVVYIVFLVDVCLLTYGMTSSSAYYYTKVMSELFLHTPSESAVSFQTISSMSDFWDGPLLDSLYWTKWYNNQSLGSSSHSFIYYENLLLGVPRLRQLRVRNDSCVVHEDFREDILNCYDVYSPDKEDQLPFGPLNGTAWTYHSQNELGGSSHWGRLTSYSGGGYYLDLPGSRQASAEALQGLQEGLWLDRGTRVVFIDFSVYNANINLFCILRLVVEFPATGGAIPSWQIRTVKLIRYVNNWDFFIVGCEVIFCIFIFYYVVEEILEIRVHRFRYLSSVWNILDLVVILLSIVAVGFHVFRTLEVNRLMGELLQQPDTYPDFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAIMFFIVFFAYAQLGYLLFGTQVESFSTFVKCIFTQFRIILGDFDYNAIDNANRILGPVYFITYVFFVFFVLLNMFLAIINDTYSEVKEELAGQRDQLQLSDLLKQSYSKTLQRLRLRKERVSDVQKVLKGGEPEIQFEDFTNTLRELTRRVLQLQRVLEGVVSQVDALSSKLKMLERKGELAPSPGMARGASCLGEPL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A259/", "id": "A2A259", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/22946", "id": "22946", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9P0L9-1", "protein_name": "Polycystic kidney disease 2-like 1 protein", "sequence": { "length": 805, "sequence": "MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQETAYRTQVSSCCLHICQGIRGLWGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDFAQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFREDILSCYDVYSPDKEEQLPFGPFNGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRVVFIDFSVYNANINLFCVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYVVEEILELHIHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQQPNTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFDYNAIDNANRILGPAYFVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKERVSDVQKVLQGGEQEIQFEDFTNTLRELGHAEHEITELTATFTKFDRDGNRILDEKEQEKMRQDLEEERVALNTEIEKLGRSIVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETVLEGVVSQIDAVGSKLKMLERKGWLAPSPGVKEQAIWKHPQPAPAVTPDPWGVQGGQESEVPYKREEEALEERRLSRGEIPTLQRS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A259/", "id": "A2A259", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/22946", "id": "22946", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "ac": "NP_852087.2", "name": "polycystic kidney disease 2-like 1 protein", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "pmid": "24336288", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "calcium channel activity", "id": "GO:0005262" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "pmid": "16891422", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "identical protein binding", "id": "GO:0042802" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "pmid": "20408813", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "calcium ion binding", "id": "GO:0005509" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "pmid": "28904867", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cation channel activity", "id": "GO:0005261" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "muscle alpha-actinin binding", "id": "GO:0051371" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "alpha-actinin binding", "id": "GO:0051393" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cytoskeletal protein binding", "id": "GO:0008092" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "calcium activated cation channel activity", "id": "GO:0005227" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "sodium channel activity", "id": "GO:0005272" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015269", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "calcium-activated potassium channel activity", "id": "GO:0015269" } ], "total": 10, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "pmid": "16891422", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cation channel complex", "id": "GO:0034703" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "15548533", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "15548533", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "29567962", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "28904867", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "pmid": "16891422", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "receptor complex", "id": "GO:0043235" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "pmid": "29567962", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "calcium channel complex", "id": "GO:0034704" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "intracellular membrane-bounded organelle", "id": "GO:0043231" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cytoplasmic vesicle", "id": "GO:0031410" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "non-motile cilium", "id": "GO:0097730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "ciliary membrane", "id": "GO:0060170" } ], "total": 12, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098662", "pmid": "28904867", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "inorganic cation transmembrane transport", "id": "GO:0098662" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "pmid": "29567962", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "protein tetramerization", "id": "GO:0051262" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "pmid": "16891422", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cation transport", "id": "GO:0006812" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "pmid": "24336288", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "smoothened signaling pathway", "id": "GO:0007224" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050982", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "detection of mechanical stimulus", "id": "GO:0050982" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "pmid": "28904867", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cellular response to pH", "id": "GO:0071467" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071468", "pmid": "29567962", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "cellular response to acidic pH", "id": "GO:0071468" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001581", "pmid": "16891422", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "detection of chemical stimulus involved in sensory perception of sour taste", "id": "GO:0001581" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009415", "pmid": "28553944", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "response to water", "id": "GO:0009415" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050912", "pmid": "28553944", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "detection of chemical stimulus involved in sensory perception of taste", "id": "GO:0050912" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "protein homotetramerization", "id": "GO:0051289" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "sodium ion transmembrane transport", "id": "GO:0035725" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050915", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "sensory perception of sour taste", "id": "GO:0050915" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" } ], "name": "potassium ion transmembrane transport", "id": "GO:0071805" } ], "total": 14, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A259", "type": "synonym", "resource": "RefSeq", "name": "B830002B15; BC046386; P; PCL; Pk; PKD; PKD2L; Pkdl; TR; TRPP3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A259", "type": "synonym", "resource": "RefSeq", "name": "Pkd2l1" }, { "url": "https://www.uniprot.org/uniprot/A2A259", "type": "recommended", "resource": "UniProtKB", "name": "Pkd2l1" }, { "url": "https://www.uniprot.org/uniprot/A2A259", "type": "synonym", "resource": "UniProtKB", "name": "Trpp3" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000037578", "id": "ENSMUSG00000037578", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/329064", "id": "329064", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2A259*", "id": "A2A259", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "id": "IPR002048", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003915", "id": "IPR003915", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "id": "IPR011992", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013122", "id": "IPR013122", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027359", "id": "IPR027359", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:329064", "id": "mmu:329064", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1352448", "id": "1352448", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/PDPWGVQ/", "id": "PDPWGVQ", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=426073at2759", "id": "426073at2759", "database": "OrthoDB" }, { "url": "https://www.rcsb.org/structure/5Z1W", "id": "5Z1W", "database": "PDB" }, { "url": "http://pfam.xfam.org/family/PF08016", "id": "PF08016", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2A259", "id": "PR_A2A259", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852087.2", "id": "NP_852087.2", "database": "RefSeq" } ], "expression_disease": [], "glycosylation": [ { "residue": "Asn", "site_category": "reported", "end_pos": 177, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259#ptm_processing", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "id": "29567962", "database": "PubMed" }, { "url": "https://www.rcsb.org/pdb/explore/remediatedSequence.do?structureId=5Z1W", "id": "5Z1W", "database": "RCSB PDB" } ], "subtype": "", "relation": "attached", "start_pos": 177, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "end_pos": 207, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259#ptm_processing", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "id": "29567962", "database": "PubMed" }, { "url": "https://www.rcsb.org/pdb/explore/remediatedSequence.do?structureId=5Z1W", "id": "5Z1W", "database": "RCSB PDB" } ], "subtype": "", "relation": "attached", "start_pos": 207, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "reported", "end_pos": 241, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259#ptm_processing", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "id": "29567962", "database": "PubMed" }, { "url": "https://www.rcsb.org/pdb/explore/remediatedSequence.do?structureId=5Z1W", "id": "5Z1W", "database": "RCSB PDB" } ], "subtype": "", "relation": "attached", "start_pos": 241, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "end_pos": 505, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259#ptm_processing", "id": "A2A259", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 505, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [ { "sequence_org": "G", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "id": "29567962", "database": "PubMed" } ], "sequence_mut": "L", "start_pos": 522, "end_pos": 522, "annotation": "Loss of channel activity." }, { "sequence_org": "D", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21185261", "id": "21185261", "database": "PubMed" } ], "sequence_mut": "E", "start_pos": 523, "end_pos": 523, "annotation": "Little or no effect on calcium channel activity." }, { "sequence_org": "D", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21185261", "id": "21185261", "database": "PubMed" } ], "sequence_mut": "N", "start_pos": 523, "end_pos": 523, "annotation": "Impaired calcium channel activity." }, { "sequence_org": "D", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21185261", "id": "21185261", "database": "PubMed" } ], "sequence_mut": "N", "start_pos": 525, "end_pos": 525, "annotation": "Little or no effect on calcium channel activity." }, { "sequence_org": "D", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21185261", "id": "21185261", "database": "PubMed" } ], "sequence_mut": "N", "start_pos": 530, "end_pos": 530, "annotation": "Little or no effect on calcium channel activity." }, { "sequence_org": "N", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28904867", "id": "28904867", "database": "PubMed" } ], "sequence_mut": "Q", "start_pos": 531, "end_pos": 531, "annotation": "No effect on activation by low pH." }, { "sequence_org": "N", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28904867", "id": "28904867", "database": "PubMed" } ], "sequence_mut": "Q", "start_pos": 533, "end_pos": 533, "annotation": "Loss of activation by low pH." }, { "sequence_org": "I", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29567962", "id": "29567962", "database": "PubMed" } ], "sequence_mut": "F", "start_pos": 560, "end_pos": 560, "annotation": "Loss of channel activity." }, { "sequence_org": "K", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15548533", "id": "15548533", "database": "PubMed" } ], "sequence_mut": "A", "start_pos": 568, "end_pos": 568, "annotation": "Increases localization at the cell surface when expressed in absence of PKD1." }, { "sequence_org": "D", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "id": "A2A259", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15548533", "id": "15548533", "database": "PubMed" } ], "sequence_mut": "A", "start_pos": 576, "end_pos": 576, "annotation": "Induces localization to the endoplasmic reticulum when expressed in absence of PKD1." } ], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 87234.0, "chemical_mass": 87234.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "name": "Pkd2l1", "locus": { "end_pos": 44147637, "strand": "-", "start_pos": 44192442, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000037578", "id": "ENSMUSG00000037578", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2A259", "type": "recommended", "resource": "UniProtKB", "name": "Polycystic kidney disease 2-like 1 protein" }, { "url": "https://www.uniprot.org/uniprot/A2A259", "type": "synonym", "resource": "UniProtKB", "name": "Polycystin-2 homolog" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A259", "type": "synonym", "resource": "RefSeq", "name": "polycystic kidney disease 2-like 1 protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A259", "type": "synonym", "resource": "RefSeq", "name": "polycystin-L; polycystin-2 homolog" } ] }