PKD1L1 Gene
protein-coding GIFtS: 48
GCID: GC07M047780
|
|
polycystic kidney disease 1 like 1
| |
Aliases
for PKD1L1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Polycystic Kidney Disease 1 Like 11 2 | | PRO195631 2 | | PC1-Like 1 Protein2 3 | | Polycystic Kidney Disease Protein 1-Like 12 | | Polycystin-1L13 | | Polycystin-1L13 |
Export aliases for PKD1L1 gene to outside databasesPrevious GC identifers: GC07M047461 GC07M047555 GC07M047587 GC07M047698 |
Summaries
for PKD1L1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PKD1L1:
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for eggjelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a rolein the male reproductive system. Alternative splice variants have been described but their biological nature has notbeen determined. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9Function: May have a role in the heart and in the male reproductive system
|
Genomic Views
for PKD1L1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PKD1L1 gene promoter:
ATF-2 Nkx2-5 CBF-C CRE-BP1 CBF-A CBF-B CP1C CP1A NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for PKD1L1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD1L1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p12.3 Ensembl cytogenetic band: 7p12.3 HGNC cytogenetic band: 7p12.3PKD1L1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M047780: view genomic region
(about GC identifiers)
Start:
|
47,814,250 bp from pter |
End:
|
47,988,088 bp from pter |
Size:
|
173,839 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 47,854,548-48,027,961 |
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Proteins
for PKD1L1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9 (See
protein sequence)Recommended Name: Polycystic kidney disease protein 1-like 1 Size: 2849 amino acids; 315435 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAQ89117.1; Type=Erroneous initiation;
Secondary accessions: Q6UWK1Alternative splicing: 2 isoforms: Q8TDX9-1 Q8TDX9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PKD1L1: NX_Q8TDX9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TDX9
PKD1L1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_612152.1
ENSEMBL proteins: ENSP00000289672 ENSP00000393466
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
PKD1L1 for ontologies About GeneDecksing
PKD1L1 Antibody Products:
Assay Products for PKD1L1: |
Protein
Domains /
Families
for PKD1L1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PKD1L1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q8TDX9ProtoNet protein and cluster: Q8TDX9 3 Blocks protein families: IPB000601 PKD IPB001024 Lipoxygenase IPB002859 PKD/REJ-like protein
UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9Similarity: Belongs to the polycystin familySimilarity: Contains 1 GPS domainSimilarity: Contains 2 PKD domainsSimilarity: Contains 1 PLAT domainSimilarity: Contains 1 REJ domain |
Function
for PKD1L1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9Function: May have a role in the heart and in the male reproductive system
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1L1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1L1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1L1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
PKD1L1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PKD1L1:
Animal Models:
Mouse knock-out Pkd1l1tm1Lex for PKD1L1
11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pkd1l1):
PKD1L1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PKD1L1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q | | | 2 | Adenylate cyclase-activating neuropeptides | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for PKD1L1
PKD1L1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PKD1L1
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
PKD1L1 for ontologies About GeneDecksing
|
Drugs & Compounds
for PKD1L1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PKD1L1
Search CenterWatch for drugs/clinical trials and news about PKD1L1 / PK1L1
|
Transcripts
for PKD1L1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PKD1L1 gene: NM_138295.3 Unigene Cluster for PKD1L1: Polycystic kidney disease 1 like 1 Hs.195979 [show with all ESTs]Unigene Representative Sequence: NM_1382954 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000289672(uc003tny.2) ENST00000483616(uc003tob.3) ENST00000462350
ENST00000433506
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1L1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1L1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PKD1L1 (NM_138295) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKD1L1 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1L1 |
Additional cDNA sequence: AB061683.1 AY358757.1 2 DOTS entries: DT.100017125 DT.75111827 5 AceView cDNA sequences: AX747337 AK092057 CA420605 AK024728 NM_025031
GeneLoc Exon Structure
|
Expression
for PKD1L1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PKD1L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCACACGA
About this image
See PKD1L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKD1L1
SOURCE GeneReport for Unigene cluster: Hs.195979
UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9Tissue specificity: Detected in testis and in fetal and adult heart
SABiosciences Custom PCR Arrays for PKD1L1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD1L1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PKD1L1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD1L1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD1L1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1L1 |
Orthologs
for PKD1L1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for PKD1L1 gene from 1/14 species (see all 14) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
6(a) |
1 ↔ 1 |
GL344677.1(3354-6513) |
ENSEMBL Gene Tree for PKD1L1 (if available)
TreeFam Gene Tree for PKD1L1 (if available) |
Paralogs
for PKD1L1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PKD1L1 gene
- PKD22 NPIPP12 PKDREJ2 PKD12 PKD2L22 PKD2L12
PKD1L1 for paralogs About GeneDecksing
|
Genomic Variants
for PKD1L1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PKD1L1 (47814250 - 47988088 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PKD1L1: --
Human Gene Mutation Database (HGMD): PKD1L1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD1L1 |
|
Disorders
/ Diseases
for PKD1L1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PKD1L1 for disorders About GeneDecksing
OMIM gene information: 609721
OMIM disorders: --
6  diseases for PKD1L1: About MalaCardspolycystic kidney disease kidney disease ciliary dyskinesia primary ciliary dyskinesia
situs inversus diaphanospondylodysostosis
1 disease from the University of Copenhagen DISEASES database for PKD1L1:Primary ciliary dyskinesia Human Genome Epidemiology (HuGE) Navigator: PKD1L1 (1 document)
Export disorders for PKD1L1 gene to outside databases
|
Publications
for PKD1L1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PKD1L1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with PKD1L1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human. (PubMed id 11863367)1, 2, 3, 9 Yuasa T.... Zhou J. (2002)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- Polycystin-1L2 is a novel G-protein-binding protein. (PubMed id 15203210)1, 9 Yuasa T.... Zhou J. (2004)
- Genome-wide association study identifies variants asso ciated with progression of liver fibrosis from HCV infection. (PubMed id 22841784)1 Patin E.... . (2012)
- BMPER mutation in diaphanospondylodysostosis identifi ed by ancestral autozygosity mapping and targeted high-throughput sequencing. (PubMed id 20869035)2 Funari V.A....Cohn D.H. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
- Molecular complexes formed with polycystins. (PubMed id 12411743)1 Lakkis M. and Zhou J. (2003)
|
External Searches for PKD1L1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PKD1L1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PKD1L1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PKD1L1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PKD1L1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PKD1L1 gene:
Search GeneIP for patents involving PKD1L1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PKD1L1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PKD1L1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD1L1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD1L1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKD1L1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD1L1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD1L1 |
| |
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 | | | PKD1L1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1L1 |
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| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1L1 |
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