Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKD1L3 (polycystic kidney disease 1-like 3)

Identity

Alias_namespolycystic kidney disease 1-like 3
Other alias-
HGNC (Hugo) PKD1L3
LocusID (NCBI) 342372
Atlas_Id 71937
Location 16q22.2  [Link to chromosome band 16q22]
Location_base_pair Starts at 71963441 and ends at 72033877 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PKD1L3   21716
Cards
Entrez_Gene (NCBI)PKD1L3  342372  polycystic kidney disease 1-like 3
Aliases
GeneCards (Weizmann)PKD1L3
Ensembl hg19 (Hinxton)ENSG00000277481 [Gene_View]  chr16:71963441-72033877 [Contig_View]  PKD1L3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000277481 [Gene_View]  chr16:71963441-72033877 [Contig_View]  PKD1L3 [Vega]
ICGC DataPortalENSG00000277481
TCGA cBioPortalPKD1L3
AceView (NCBI)PKD1L3
Genatlas (Paris)PKD1L3
WikiGenes342372
SOURCE (Princeton)PKD1L3
Genetics Home Reference (NIH)PKD1L3
Genomic and cartography
GoldenPath hg19 (UCSC)PKD1L3  -     chr16:71963441-72033877 -  16q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PKD1L3  -     16q22.2   [Description]    (hg38-Dec_2013)
EnsemblPKD1L3 - 16q22.2 [CytoView hg19]  PKD1L3 - 16q22.2 [CytoView hg38]
Mapping of homologs : NCBIPKD1L3 [Mapview hg19]  PKD1L3 [Mapview hg38]
OMIM607895   
Gene and transcription
Genbank (Entrez)AY164485
RefSeq transcript (Entrez)NM_181536
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_032958 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)PKD1L3
Cluster EST : UnigeneHs.675286 [ NCBI ]
CGAP (NCI)Hs.675286
Alternative Splicing GalleryENSG00000277481
Gene ExpressionPKD1L3 [ NCBI-GEO ]   PKD1L3 [ EBI - ARRAY_EXPRESS ]   PKD1L3 [ SEEK ]   PKD1L3 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD1L3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)342372
GTEX Portal (Tissue expression)PKD1L3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z443   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z443  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z443
Splice isoforms : SwissVarQ7Z443
PhosPhoSitePlusQ7Z443
Domaine pattern : Prosite (Expaxy)GPS (PS50221)    PLAT (PS50095)   
Domains : Interpro (EBI)C-type_lectin    C-type_lectin-like    C-type_lectin_fold    GPS    Lipase_LipOase    PC1    PKD1_2_channel    PLAT/LH2_dom   
Domain families : Pfam (Sanger)GPS (PF01825)    Lectin_C (PF00059)    PKD_channel (PF08016)    PLAT (PF01477)   
Domain families : Pfam (NCBI)pfam01825    pfam00059    pfam08016    pfam01477   
Domain families : Smart (EMBL)CLECT (SM00034)  GPS (SM00303)  LH2 (SM00308)  
Conserved Domain (NCBI)PKD1L3
DMDM Disease mutations342372
Blocks (Seattle)PKD1L3
SuperfamilyQ7Z443
Human Protein AtlasENSG00000277481
Peptide AtlasQ7Z443
HPRD07436
IPIIPI00375881   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z443
IntAct (EBI)Q7Z443
FunCoupENSG00000277481
BioGRIDPKD1L3
STRING (EMBL)PKD1L3
ZODIACPKD1L3
Ontologies - Pathways
QuickGOQ7Z443
Ontology : AmiGOdetection of chemical stimulus involved in sensory perception of sour taste  detection of chemical stimulus involved in sensory perception of sour taste  kidney development  cation channel activity  calcium channel activity  protein binding  plasma membrane  cation transport  cation transmembrane transporter activity  cell surface  carbohydrate binding  sour taste receptor activity  sour taste receptor activity  cation channel complex  receptor complex  sensory perception of sour taste  extracellular exosome  calcium ion transmembrane transport  cellular response to acidic pH  cellular response to acidic pH  
Ontology : EGO-EBIdetection of chemical stimulus involved in sensory perception of sour taste  detection of chemical stimulus involved in sensory perception of sour taste  kidney development  cation channel activity  calcium channel activity  protein binding  plasma membrane  cation transport  cation transmembrane transporter activity  cell surface  carbohydrate binding  sour taste receptor activity  sour taste receptor activity  cation channel complex  receptor complex  sensory perception of sour taste  extracellular exosome  calcium ion transmembrane transport  cellular response to acidic pH  cellular response to acidic pH  
NDEx NetworkPKD1L3
Atlas of Cancer Signalling NetworkPKD1L3
Wikipedia pathwaysPKD1L3
Orthology - Evolution
OrthoDB342372
GeneTree (enSembl)ENSG00000277481
Phylogenetic Trees/Animal Genes : TreeFamPKD1L3
HOVERGENQ7Z443
HOGENOMQ7Z443
Homologs : HomoloGenePKD1L3
Homology/Alignments : Family Browser (UCSC)PKD1L3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD1L3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD1L3
dbVarPKD1L3
ClinVarPKD1L3
1000_GenomesPKD1L3 
Exome Variant ServerPKD1L3
ExAC (Exome Aggregation Consortium)PKD1L3 (select the gene name)
Genetic variants : HAPMAP342372
Genomic Variants (DGV)PKD1L3 [DGVbeta]
DECIPHER (Syndromes)16:71963441-72033877  ENSG00000277481
CONAN: Copy Number AnalysisPKD1L3 
Mutations
ICGC Data PortalPKD1L3 
TCGA Data PortalPKD1L3 
Broad Tumor PortalPKD1L3
OASIS PortalPKD1L3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKD1L3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKD1L3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PKD1L3
DgiDB (Drug Gene Interaction Database)PKD1L3
DoCM (Curated mutations)PKD1L3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKD1L3 (select a term)
intoGenPKD1L3
Cancer3DPKD1L3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607895   
Orphanet
MedgenPKD1L3
Genetic Testing Registry PKD1L3
NextProtQ7Z443 [Medical]
TSGene342372
GENETestsPKD1L3
Huge Navigator PKD1L3 [HugePedia]
snp3D : Map Gene to Disease342372
BioCentury BCIQPKD1L3
ClinGenPKD1L3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD342372
Chemical/Pharm GKB GenePA134907578
Clinical trialPKD1L3
Miscellaneous
canSAR (ICR)PKD1L3 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKD1L3
EVEXPKD1L3
GoPubMedPKD1L3
iHOPPKD1L3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:38:43 CET 2017

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