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Q9P0L9 (PK2L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polycystic kidney disease 2-like 1 protein
Alternative name(s):
Polycystin-2 homolog
Polycystin-2L1
Polycystin-L
Polycystin-L1
Gene names
Name:PKD2L1
Synonyms:PKD2L, PKDL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length805 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 805805Polycystic kidney disease 2-like 1 protein
PRO_0000164360

Regions

Topological domain1 – 103103Cytoplasmic Potential
Transmembrane104 – 12421Helical; Potential
Topological domain125 – 313189Extracellular Potential
Transmembrane314 – 33421Helical; Potential
Topological domain335 – 34713Cytoplasmic Potential
Transmembrane348 – 36821Helical; Potential
Topological domain369 – 38416Extracellular Potential
Transmembrane385 – 40521Helical; Potential
Topological domain406 – 47671Cytoplasmic Potential
Transmembrane477 – 49721Helical; Potential
Topological domain498 – 53942Extracellular Potential
Transmembrane540 – 56021Helical; Potential
Topological domain561 – 805245Cytoplasmic Potential
Coiled coil650 – 68637 Potential
Motif195 – 20713Polycystin motif

Amino acid modifications

Glycosylation1771N-linked (GlcNAc...) Potential
Glycosylation2071N-linked (GlcNAc...) Potential
Glycosylation2411N-linked (GlcNAc...) Potential
Glycosylation5051N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence225 – 344120Missing in isoform 4.
VSP_004728
Alternative sequence245 – 31975Missing in isoform 3.
VSP_004729
Alternative sequence751 – 76010KEQAIWKHPQ → RFPIKEKRKP in isoform 2.
VSP_004730
Alternative sequence761 – 80545Missing in isoform 2.
VSP_004731
Natural variant2781R → Q.
Corresponds to variant rs17112895 [ dbSNP | Ensembl ].
VAR_050555
Natural variant3781R → W.
Corresponds to variant rs7909153 [ dbSNP | Ensembl ].
VAR_050556
Natural variant3931V → I. Ref.1
Corresponds to variant rs2278842 [ dbSNP | Ensembl ].
VAR_024569
Natural variant6811R → L.
Corresponds to variant rs6584356 [ dbSNP | Ensembl ].
VAR_024570
Natural variant7881A → D.
Corresponds to variant rs12782963 [ dbSNP | Ensembl ].
VAR_050557

Experimental info

Sequence conflict131Q → H in AAD41638. Ref.1

Secondary structure

..... 805
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 3714C07F4B71F9C6

FASTA80591,982
        10         20         30         40         50         60 
MNAVGSPEGQ ELQKLGSGAW DNPAYSGPPS PHGTLRVCTI SSTGPLQPQP KKPEDEPQET 

        70         80         90        100        110        120 
AYRTQVSSCC LHICQGIRGL WGTTLTENTA ENRELYIKTT LRELLVYIVF LVDICLLTYG 

       130        140        150        160        170        180 
MTSSSAYYYT KVMSELFLHT PSDTGVSFQA ISSMADFWDF AQGPLLDSLY WTKWYNNQSL 

       190        200        210        220        230        240 
GHGSHSFIYY ENMLLGVPRL RQLKVRNDSC VVHEDFREDI LSCYDVYSPD KEEQLPFGPF 

       250        260        270        280        290        300 
NGTAWTYHSQ DELGGFSHWG RLTSYSGGGY YLDLPGSRQG SAEALRALQE GLWLDRGTRV 

       310        320        330        340        350        360 
VFIDFSVYNA NINLFCVLRL VVEFPATGGA IPSWQIRTVK LIRYVSNWDF FIVGCEVIFC 

       370        380        390        400        410        420 
VFIFYYVVEE ILELHIHRLR YLSSIWNILD LVVILLSIVA VGFHIFRTLE VNRLMGKLLQ 

       430        440        450        460        470        480 
QPNTYADFEF LAFWQTQYNN MNAVNLFFAW IKIFKYISFN KTMTQLSSTL ARCAKDILGF 

       490        500        510        520        530        540 
AVMFFIVFFA YAQLGYLLFG TQVENFSTFI KCIFTQFRII LGDFDYNAID NANRILGPAY 

       550        560        570        580        590        600 
FVTYVFFVFF VLLNMFLAII NDTYSEVKEE LAGQKDELQL SDLLKQGYNK TLLRLRLRKE 

       610        620        630        640        650        660 
RVSDVQKVLQ GGEQEIQFED FTNTLRELGH AEHEITELTA TFTKFDRDGN RILDEKEQEK 

       670        680        690        700        710        720 
MRQDLEEERV ALNTEIEKLG RSIVSSPQGK SGPEAARAGG WVSGEEFYML TRRVLQLETV 

       730        740        750        760        770        780 
LEGVVSQIDA VGSKLKMLER KGWLAPSPGV KEQAIWKHPQ PAPAVTPDPW GVQGGQESEV 

       790        800 
PYKREEEALE ERRLSRGEIP TLQRS 

« Hide

Isoform 2 (PKDLdel15) [UniParc].

Checksum: 203D20F881C40055
Show »

FASTA76086,988
Isoform 3 (PKDLdel5) [UniParc].

Checksum: 02ABA835A71B32AD
Show »

FASTA73083,511
Isoform 4 (PKDLdel456) [UniParc].

Checksum: E805D32F37E6F54E
Show »

FASTA68578,520

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. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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 expand/collapse EMBL AC list , AF153459, AF153460, AF153461, AF153462, AF153463, AF153464, AF153465, AF153466, AF153467, AF153468, AF153469, AF153470, AF153471, AF153472, 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.
IPIIPI00103744.
IPI00219270.
IPI00219271.
IPI00219272.
RefSeqNP_001240766.1. NM_001253837.1.
NP_057196.2. NM_016112.2.
UniGeneHs.159241.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3TE3X-ray2.69A/B/C/D/E/F699-737[»]
4GIFX-ray2.80A699-743[»]
ProteinModelPortalQ9P0L9.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000325296.

Polymorphism databases

DMDM23821938.

Proteomic databases

PaxDbQ9P0L9.
PRIDEQ9P0L9.

Protocols and materials databases

DNASU9033.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318222; ENSP00000325296; ENSG00000107593.
ENST00000338519; ENSP00000345068; ENSG00000107593.
ENST00000353274; ENSP00000266049; ENSG00000107593.
GeneID9033.
KEGGhsa:9033.
UCSCuc001kqx.1. human.

Organism-specific databases

CTD9033.
GeneCardsGC10M102037.
HGNCHGNC:9011. PKD2L1.
HPACAB022621.
MIM604532. gene.
neXtProtNX_Q9P0L9.
PharmGKBPA33344.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325704.
HOGENOMHOG000230858.
HOVERGENHBG014945.
InParanoidQ9P0L9.
KOK04990.
OMAGFHIFRT.
OrthoDBEOG4D52X2.
PhylomeDBQ9P0L9.

Gene expression databases

ArrayExpressQ9P0L9.
BgeeQ9P0L9.
CleanExHS_PKD2L1.
GenevestigatorQ9P0L9.
GermOnlineENSG00000107593. Homo sapiens.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-like_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSPR01433. POLYCYSTIN2.
PROSITEPS00018. EF_HAND_1. False negative.
[Graphical view]
ProtoNetSearch...

Other

ChEMBLCHEMBL1628480.
GenomeRNAi9033.
NextBio33843.
SOURCESearch...

Entry information

Entry namePK2L1_HUMAN
AccessionPrimary (citable) accession number: Q9P0L9
Secondary accession number(s): O75972 expand/collapse secondary AC list , Q5W039, Q9UP35, Q9UPA2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: May 1, 2013
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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