PKD2L1
Polycystin-2-like protein 1
Also known as: PCL, PK2L1_HUMAN, PKD2L, PKDL, TRPP3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9P0L9
- Gene
- PKD2L1
- Ensembl
- ENSG00000107593
- Chromosome
- 10
- Canonical length
- 805 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Plasma membrane,Actin filaments,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
805 residues, UniProt reviewed canonical sequence.
>Q9P0L9|PKD2L1
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 TLQRSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PKD2L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- retina: 12 nTPM
- spleen: 7.6 nTPM
- cerebral cortex: 3.6 nTPM
- testis: 2.3 nTPM
- lung: 2.2 nTPM
- tonsil: 1.6 nTPM
Single-cell type
- retinal horizontal cells: 86 nCPM
- late spermatids: 35 nCPM
- kupffer cells: 31 nCPM
- early spermatids: 24 nCPM
- podocytes: 17 nCPM
- hofbauer cells: 16 nCPM
Immune cell
- intermediate monocyte: 0.9 nTPM
- classical monocyte: 0.8 nTPM
- non-classical monocyte: 0.8 nTPM
- neutrophil: 0.2 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebral cortex: 2.2 nTPM
- white matter: 1.5 nTPM
- basal ganglia: 1.4 nTPM
- hippocampal formation: 0.8 nTPM
- midbrain: 0.7 nTPM
- pons: 0.6 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.25
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.07
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to acidic pH
- detection of chemical stimulus involved in sensory perception of sour taste
- detection of mechanical stimulus
- inorganic cation transmembrane transport
- monoatomic cation transmembrane transport
- monoatomic cation transport
- potassium ion transmembrane transport
- protein homotetramerization
- sensory perception of sour taste
- smoothened signaling pathway
- sodium ion transmembrane transport
- detection of chemical stimulus involved in sensory perception of taste
- response to water
Molecular functions
- alpha-actinin binding
- calcium channel activity
- calcium ion binding
- calcium-activated cation channel activity
- calcium-activated potassium channel activity
- cytoskeletal protein binding
- identical protein binding
- monoatomic cation channel activity
- muscle alpha-actinin binding
- osmolarity-sensing monoatomic cation channel activity
- pH-gated monoatomic ion channel activity
- sodium channel activity
- transmembrane transporter binding
- sour taste receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PKD2L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PKD2L1 as an antibody target. Whether an autoantibody or antibody against PKD2L1 could matter depends on whether native PKD2L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PKD2L1 is annotated at the cell surface, where native PKD2L1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PKD2L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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