Q9P0L9 (PK2L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 111.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Polycystic kidney disease 2-like 1 protein Alternative name(s): Polycystin-2 homolog Polycystin-2L1 Polycystin-L Polycystin-L1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 805 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May function as a subunit of an ion channel and act as a transducer of calcium-mediated signaling. Ref.8 |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to Ref.1, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. According to Ref.7, expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts. Ref.1 Ref.7 |
| Sequence similarities | Belongs to the polycystin family. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q9P0L9-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9P0L9-2) Also known as: PKDLdel15; The sequence of this isoform differs from the canonical sequence as follows: 751-760: KEQAIWKHPQ → RFPIKEKRKP 761-805: Missing. | ||||||
| Isoform 3 (identifier: Q9P0L9-3) Also known as: PKDLdel5; The sequence of this isoform differs from the canonical sequence as follows: 245-319: Missing. | ||||||
| Isoform 4 (identifier: Q9P0L9-4) Also known as: PKDLdel456; The sequence of this isoform differs from the canonical sequence as follows: 225-344: Missing. | ||||||
| Note: Unusual intron exon spliced junction. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||
Molecule processing | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 805 | 805 | Polycystic kidney disease 2-like 1 protein | PRO_0000164360 | |||||||||
Regions | |||||||||||||
| Topological domain | 1 – 103 | 103 | Cytoplasmic Potential | ||||||||||
| Transmembrane | 104 – 124 | 21 | Helical; Potential | ||||||||||
| Topological domain | 125 – 313 | 189 | Extracellular Potential | ||||||||||
| Transmembrane | 314 – 334 | 21 | Helical; Potential | ||||||||||
| Topological domain | 335 – 347 | 13 | Cytoplasmic Potential | ||||||||||
| Transmembrane | 348 – 368 | 21 | Helical; Potential | ||||||||||
| Topological domain | 369 – 384 | 16 | Extracellular Potential | ||||||||||
| Transmembrane | 385 – 405 | 21 | Helical; Potential | ||||||||||
| Topological domain | 406 – 476 | 71 | Cytoplasmic Potential | ||||||||||
| Transmembrane | 477 – 497 | 21 | Helical; Potential | ||||||||||
| Topological domain | 498 – 539 | 42 | Extracellular Potential | ||||||||||
| Transmembrane | 540 – 560 | 21 | Helical; Potential | ||||||||||
| Topological domain | 561 – 805 | 245 | Cytoplasmic Potential | ||||||||||
| Coiled coil | 650 – 686 | 37 | Potential | ||||||||||
| Motif | 195 – 207 | 13 | Polycystin motif | ||||||||||
Amino acid modifications | |||||||||||||
| Glycosylation | 177 | 1 | N-linked (GlcNAc...) Potential | ||||||||||
| Glycosylation | 207 | 1 | N-linked (GlcNAc...) Potential | ||||||||||
| Glycosylation | 241 | 1 | N-linked (GlcNAc...) Potential | ||||||||||
| Glycosylation | 505 | 1 | N-linked (GlcNAc...) Potential | ||||||||||
Natural variations | |||||||||||||
| Alternative sequence | 225 – 344 | 120 | Missing in isoform 4. | VSP_004728 | |||||||||
| Alternative sequence | 245 – 319 | 75 | Missing in isoform 3. | VSP_004729 | |||||||||
| Alternative sequence | 751 – 760 | 10 | KEQAIWKHPQ → RFPIKEKRKP in isoform 2. | VSP_004730 | |||||||||
| Alternative sequence | 761 – 805 | 45 | Missing in isoform 2. | VSP_004731 | |||||||||
| Natural variant | 278 | 1 | R → Q. Corresponds to variant rs17112895 [ dbSNP | Ensembl ]. | VAR_050555 | |||||||||
| Natural variant | 378 | 1 | R → W. Corresponds to variant rs7909153 [ dbSNP | Ensembl ]. | VAR_050556 | |||||||||
| Natural variant | 393 | 1 | V → I. Ref.1 Corresponds to variant rs2278842 [ dbSNP | Ensembl ]. | VAR_024569 | |||||||||
| Natural variant | 681 | 1 | R → L. Corresponds to variant rs6584356 [ dbSNP | Ensembl ]. | VAR_024570 | |||||||||
| Natural variant | 788 | 1 | A → D. Corresponds to variant rs12782963 [ dbSNP | Ensembl ]. | VAR_050557 | |||||||||
Experimental info | |||||||||||||
| Sequence conflict | 13 | 1 | Q → H in AAD41638. Ref.1 | ||||||||||
Secondary structure | |||||||||||||
Helix Strand Turn | |||||||||||||
| Helix | 704 – 731 | 28 | |||||||||||
| Helix | 734 – 741 | 8 | |||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects." Nomura H., Turco A.E., Pei Y., Kalaydjieva L., Schiavello T., Weremowicz S., Ji W., Morton C.C., Meisler M., Reeders S.T., Zhou J. J. Biol. Chem. 273:25967-25973(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ILE-393. Tissue: Retina. |
| [2] | "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism." Guo L., Chen M., Basora N., Zhou J. Mamm. Genome 11:46-50(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4). |
| [3] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [6] | "Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25." Wu G., Hayashi T., Park J.-H., Dixit M., Reynolds D.M., Li L., Maeda Y., Cai Y., Coca-Prados M., Somlo S. Genomics 54:564-568(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-805 (ISOFORM 1). Tissue: Retina. |
| [7] | "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)." Veldhuisen B., Spruit L., Dauwerse H.G., Breuning M.H., Peters D.J.M. Eur. J. Hum. Genet. 7:860-872(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 43-805 (ISOFORMS 1 AND 4), TISSUE SPECIFICITY. Tissue: Testis. |
| [8] | "Polycystin-L is a calcium-regulated cation channel permeable to calcium ions." Chen X.-Z., Vassilev P.M., Basora N., Peng J.-B., Nomura H., Segal Y., Brown E.M., Reeders S.T., Hediger M.A., Zhou J. Nature 401:383-386(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PROBABLE FUNCTION. |
| [9] | "Polycystin channels and kidney disease." Stayner C., Zhou J. Trends Pharmacol. Sci. 22:543-546(2001) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF073481 mRNA. Translation: AAD41638.1. AF153474 AF153473 Genomic DNA. Translation: AAF28108.1.AL139819 Genomic DNA. Translation: CAH72822.1. CH471066 Genomic DNA. Translation: EAW49833.1. BC025665 mRNA. Translation: AAH25665.1. AF094827 mRNA. Translation: AAD08695.1. AF053316 mRNA. Translation: AAD51859.1. | ||||||||||||||||||
| IPI | IPI00103744. IPI00219270. IPI00219271. IPI00219272. | ||||||||||||||||||
| RefSeq | NP_001240766.1. NM_001253837.1. NP_057196.2. NM_016112.2. | ||||||||||||||||||
| UniGene | Hs.159241. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||
| ProteinModelPortal | Q9P0L9. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| STRING | 9606.ENSP00000325296. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 23821938. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | Q9P0L9. | ||||||||||||||||||
| PRIDE | Q9P0L9. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 9033. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000318222; ENSP00000325296; ENSG00000107593. ENST00000338519; ENSP00000345068; ENSG00000107593. ENST00000353274; ENSP00000266049; ENSG00000107593. | ||||||||||||||||||
| GeneID | 9033. | ||||||||||||||||||
| KEGG | hsa:9033. | ||||||||||||||||||
| UCSC | uc001kqx.1. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 9033. | ||||||||||||||||||
| GeneCards | GC10M102037. | ||||||||||||||||||
| HGNC | HGNC:9011. PKD2L1. | ||||||||||||||||||
| HPA | CAB022621. | ||||||||||||||||||
| MIM | 604532. gene. | ||||||||||||||||||
| neXtProt | NX_Q9P0L9. | ||||||||||||||||||
| PharmGKB | PA33344. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG325704. | ||||||||||||||||||
| HOGENOM | HOG000230858. | ||||||||||||||||||
| HOVERGEN | HBG014945. | ||||||||||||||||||
| InParanoid | Q9P0L9. | ||||||||||||||||||
| KO | K04990. | ||||||||||||||||||
| OMA | GFHIFRT. | ||||||||||||||||||
| OrthoDB | EOG4D52X2. | ||||||||||||||||||
| PhylomeDB | Q9P0L9. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q9P0L9. | ||||||||||||||||||
| Bgee | Q9P0L9. | ||||||||||||||||||
| CleanEx | HS_PKD2L1. | ||||||||||||||||||
| Genevestigator | Q9P0L9. | ||||||||||||||||||
| GermOnline | ENSG00000107593. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| Gene3D | 1.10.238.10. 1 hit. | ||||||||||||||||||
| InterPro | IPR011992. EF-hand-like_dom. IPR013122. PKD1_2_channel. IPR003915. PKD_2. [Graphical view] | ||||||||||||||||||
| Pfam | PF08016. PKD_channel. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR01433. POLYCYSTIN2. | ||||||||||||||||||
| PROSITE | PS00018. EF_HAND_1. False negative. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| ChEMBL | CHEMBL1628480. | ||||||||||||||||||
| GenomeRNAi | 9033. | ||||||||||||||||||
| NextBio | 33843. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | PK2L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P0L9 Secondary accession number(s): O75972 Q9UPA2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
