LOCUS       NP_057196                805 aa            linear   PRI 28-APR-2025
DEFINITION  polycystin-2-like protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_057196
VERSION     NP_057196.2
DBSOURCE    REFSEQ: accession NM_016112.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 805)
  AUTHORS   Kragl,A., Hannemann,A., Nauck,M., Volker,U., Siggelkow,H.,
            Teumer,A. and Tzvetkov,M.V.
  TITLE     Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound
            Bone Stiffness: Analyses from the General Population and Patients
            Evaluated for Osteoporosis
  JOURNAL   Calcif Tissue Int 113 (5), 540-551 (2023)
   PUBMED   37831088
  REMARK    GeneRIF: Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel
            Ultrasound Bone Stiffness: Analyses from the General Population and
            Patients Evaluated for Osteoporosis.
REFERENCE   2  (residues 1 to 805)
  AUTHORS   Shimizu,T., Fujii,T., Hanita,K., Shinozaki,R., Takamura,Y.,
            Suzuki,Y., Kageyama,T., Kato,M., Nishijo,H., Tominaga,M. and
            Sakai,H.
  TITLE     Polycystic kidney disease 2-like 1 channel contributes to the
            bitter aftertaste perception of quinine
  JOURNAL   Sci Rep 13 (1), 4271 (2023)
   PUBMED   36922541
  REMARK    GeneRIF: Polycystic kidney disease 2-like 1 channel contributes to
            the bitter aftertaste perception of quinine.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 805)
  AUTHORS   Eom,S., Lee,S., Lee,J., Pyeon,M., Yeom,H.D., Song,J.H., Choi,E.J.,
            Lee,M., Lee,J.H. and Chang,J.Y.
  TITLE     Molecular Mechanism of L-Pyroglutamic Acid Interaction with the
            Human Sour Receptor
  JOURNAL   J Microbiol Biotechnol 33 (2), 203-210 (2023)
   PUBMED   36655284
  REMARK    GeneRIF: Molecular Mechanism of L-Pyroglutamic Acid Interaction
            with the Human Sour Receptor.
REFERENCE   4  (residues 1 to 805)
  AUTHORS   Walsh,S., Izquierdo-Serra,M., Acosta,S., Edo,A., Lloret,M.,
            Moret,R., Bosch,E., Oliva,B., Bertranpetit,J. and
            Fernandez-Fernandez,J.M.
  TITLE     Adaptive selection drives TRPP3 loss-of-function in an Ethiopian
            population
  JOURNAL   Sci Rep 10 (1), 20999 (2020)
   PUBMED   33268808
  REMARK    GeneRIF: Adaptive selection drives TRPP3 loss-of-function in an
            Ethiopian population.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 805)
  AUTHORS   Ng,L.C.T., Vien,T.N., Yarov-Yarovoy,V. and DeCaen,P.G.
  TITLE     Opening TRPP2 (PKD2L1) requires the transfer of gating charges
  JOURNAL   Proc Natl Acad Sci U S A 116 (31), 15540-15549 (2019)
   PUBMED   31315976
  REMARK    GeneRIF: Opening TRPP2 (PKD2L1) requires the transfer of gating
            charges.
REFERENCE   6  (residues 1 to 805)
  AUTHORS   Veldhuisen,B., Spruit,L., Dauwerse,H.G., Breuning,M.H. and
            Peters,D.J.
  TITLE     Genes homologous to the autosomal dominant polycystic kidney
            disease genes (PKD1 and PKD2)
  JOURNAL   Eur J Hum Genet 7 (8), 860-872 (1999)
   PUBMED   10602361
REFERENCE   7  (residues 1 to 805)
  AUTHORS   Chen,X.Z., Vassilev,P.M., Basora,N., Peng,J.B., Nomura,H.,
            Segal,Y., Brown,E.M., Reeders,S.T., Hediger,M.A. and Zhou,J.
  TITLE     Polycystin-L is a calcium-regulated cation channel permeable to
            calcium ions
  JOURNAL   Nature 401 (6751), 383-386 (1999)
   PUBMED   10517637
REFERENCE   8  (residues 1 to 805)
  AUTHORS   Tsiokas,L., Arnould,T., Zhu,C., Kim,E., Walz,G. and Sukhatme,V.P.
  TITLE     Specific association of the gene product of PKD2 with the TRPC1
            channel
  JOURNAL   Proc Natl Acad Sci U S A 96 (7), 3934-3939 (1999)
   PUBMED   10097141
REFERENCE   9  (residues 1 to 805)
  AUTHORS   Wu,G., Hayashi,T., Park,J.H., Dixit,M., Reynolds,D.M., Li,L.,
            Maeda,Y., Cai,Y., Coca-Prados,M. and Somlo,S.
  TITLE     Identification of PKD2L, a human PKD2-related gene: tissue-specific
            expression and mapping to chromosome 10q25
  JOURNAL   Genomics 54 (3), 564-568 (1998)
   PUBMED   9878261
REFERENCE   10 (residues 1 to 805)
  AUTHORS   Nomura,H., Turco,A.E., Pei,Y., Kalaydjieva,L., Schiavello,T.,
            Weremowicz,S., Ji,W., Morton,C.C., Meisler,M., Reeders,S.T. and
            Zhou,J.
  TITLE     Identification of PKDL, a novel polycystic kidney disease 2-like
            gene whose murine homologue is deleted in mice with kidney and
            retinal defects
  JOURNAL   J Biol Chem 273 (40), 25967-25973 (1998)
   PUBMED   9748274
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139819.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 12, 2003 this sequence version replaced NP_057196.1.
            
            Summary: This gene encodes a member of the polycystin protein
            family. The encoded protein contains multiple transmembrane
            domains, and cytoplasmic N- and C-termini. The protein may be an
            integral membrane protein involved in cell-cell/matrix
            interactions. This protein functions as a calcium-regulated
            nonselective cation channel. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC025665.1, AF073481.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318222.4/ ENSP00000325296.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..805
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     Protein         1..805
                     /product="polycystin-2-like protein 1 isoform 1"
                     /note="transient receptor potential cation channel,
                     subfamily P, member 3; polycystin-L; polycystic kidney
                     disease 2-like 1 protein; polycystin-L1; polycystin-2L1;
                     polycystin-2 homolog; polycystin-2-like protein 1"
                     /calculated_mol_wt=91851
     Region          1..59
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            104..124
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Region          147..342
                     /region_name="Polycystin_dom"
                     /note="Polycystin domain; pfam20519"
                     /db_xref="CDD:466668"
     Site            177
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            207
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30004384,
                     ECO:0007744|PDB:6DU8; propagated from UniProtKB/Swiss-Prot
                     (Q9P0L9.1)"
     Site            241
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Region          343..567
                     /region_name="PKD_channel"
                     /note="Polycystin cation channel; pfam08016"
                     /db_xref="CDD:462341"
     Site            357..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            385..405
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            434..454
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            480..499
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            505
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Site            537..557
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Region          702..735
                     /region_name="Fer4_24"
                     /note="Ferredoxin I 4Fe-4S cluster domain; pfam18109"
                     /db_xref="CDD:436280"
     Region          704..763
                     /region_name="Required for homooligomerization"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     Region          759..805
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0L9.1)"
     CDS             1..805
                     /gene="PKD2L1"
                     /gene_synonym="PCL; PKD2L; PKDL; TRPP3"
                     /coded_by="NM_016112.3:126..2543"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7492.1"
                     /db_xref="GeneID:9033"
                     /db_xref="HGNC:HGNC:9011"
                     /db_xref="MIM:604532"
ORIGIN      
        1 mnavgspegq elqklgsgaw dnpaysgpps phgtlrvcti sstgplqpqp kkpedepqet
       61 ayrtqvsscc lhicqgirgl wgttltenta enrelyiktt lrellvyivf lvdiclltyg
      121 mtsssayyyt kvmselflht psdtgvsfqa issmadfwdf aqgplldsly wtkwynnqsl
      181 ghgshsfiyy enmllgvprl rqlkvrndsc vvhedfredi lscydvyspd keeqlpfgpf
      241 ngtawtyhsq delggfshwg rltsysgggy yldlpgsrqg saealralqe glwldrgtrv
      301 vfidfsvyna ninlfcvlrl vvefpatgga ipswqirtvk liryvsnwdf fivgcevifc
      361 vfifyyvvee ilelhihrlr ylssiwnild lvvillsiva vgfhifrtle vnrlmgkllq
      421 qpntyadfef lafwqtqynn mnavnlffaw ikifkyisfn ktmtqlsstl arcakdilgf
      481 avmffivffa yaqlgyllfg tqvenfstfi kciftqfrii lgdfdynaid nanrilgpay
      541 fvtyvffvff vllnmflaii ndtysevkee lagqkdelql sdllkqgynk tllrlrlrke
      601 rvsdvqkvlq ggeqeiqfed ftntlrelgh aeheitelta tftkfdrdgn rildekeqek
      661 mrqdleeerv alnteieklg rsivsspqgk sgpeaaragg wvsgeefyml trrvlqletv
      721 legvvsqida vgsklkmler kgwlapspgv keqaiwkhpq papavtpdpw gvqggqesev
      781 pykreeeale errlsrgeip tlqrs
//
