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PKD1L1 Gene

protein-coding GIFtS: 48

GC07M047698

polycystic kidney disease 1 like 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
polycystic kidney disease 1 like 1¹ ²
PRO19563¹ ²
PC1-like 1 protein² ³
polycystic kidney disease protein 1-like 1²
polycystin-1L1²
Polycystin-1L1³

External Ids:	HGNC: 18053¹	Entrez Gene: 168507²	Ensembl: ENSG00000158683⁷	UniProtKB: Q8TDX9³

Export aliases for PKD1L1 gene to outside databases

Previous GC identifers: GC07M047461 GC07M047555 GC07M047587 GC07M047780

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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 egg

jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role

in the male reproductive system. Alternative splice variants have been described but their biological nature has not

been determined. (provided by RefSeq)

UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9

Function: May have a role in the heart and in the male reproductive system

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PKD1L1 gene promoter:
         XBP-1   FOXD1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   CUTL1   oct-B2   POU2F2C   POU2F2B   POU2F2 (Oct-2.1)
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PKD1L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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: 7p12.3

PKD1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD1L1 gene location

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M047698: view genomic region (about GC identifiers)

Start:	47,698,316 bp from pter
End:	47,988,088 bp from pter
Size:	289,773 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000007.13 NT_007819.17 NT_079592.2

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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: Q6UWK1

Alternative splicing: 2 isoforms: Q8TDX9-1 Q8TDX9-2

Explore the universe of human proteins at neXtProt for PKD1L1: NX_Q8TDX9

REFSEQ proteins: NP_612152.1

ENSEMBL proteins:

ENSP00000289672 ENSP00000393466

Human Recombinant Proteins

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2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	TAS	11863367
GO:0016021	integral to membrane	IEA	--

About this table

PKD1L1 for ontologies About GeneDecksing

Antibodies for PKD1L1:

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	Uscn ELISAs and CLIAs for PKD1L1

(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):

IPR002859 PKD/REJ-like

IPR000601 PKD_dom

IPR001024 LipOase_LH2

IPR008976 Lipase_LipOase

IPR014010 REJ-like

Graphical View of Domain Structure for InterPro Entry Q8TDX9

ProtoNet protein and cluster: Q8TDX9

3 Blocks protein families:

IPB000601 PKD

IPB001024 Lipoxygenase

IPB002859 PKD/REJ-like protein

UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9

Similarity: Belongs to the polycystin family

Similarity: Contains 1 GPS domain

Similarity: Contains 2 PKD domains

Similarity: Contains 1 PLAT domain

Similarity: Contains 1 REJ domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9

Function: May have a role in the heart and in the male reproductive system

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
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miRNA:		Sigma-Aldrich microRNA Mimics for PKD1L1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PKD1L1
		Search SABiosciences for Assays for microRNAs that regulate PKD1L1

Gene
Editing:

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Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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		GenScript cDNA clone with any tag delivered in your preferred vector: PKD1L1
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Cell
Lines:

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1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

About this table

PKD1L1 for ontologies About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PKD1L1 for pathways About GeneDecksing

2 Millipore Pathways for PKD1L1

	Adenylate cyclase-activating neuropeptides
	Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

SABiosciences Custom Pathway-Focused PCR Arrays for PKD1L1

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PKD1L1

2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007218	neuropeptide signaling pathway	--	--
GO:0016337	cell-cell adhesion	NAS	11863367

About this table

PKD1L1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PKD1L1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and siRNA for PKD1L1 Sigma-Aldrich shRNA for PKD1L1
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PKD1L1

miRNA:		Sigma-Aldrich microRNA Mimics for PKD1L1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PKD1L1
		Search SABiosciences for Assays for microRNAs that regulate PKD1L1

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PKD1L1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PKD1L1 OriGene untagged cDNA clones in CMV expression vector: PKD1L1 Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: PKD1L1

Primers:		OriGene genome-wide validated SYBR primer pairs: PKD1L1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PKD1L1: PPH19383A

REFSEQ mRNAs for PKD1L1 gene:

NM_138295.3

Additional cDNA sequence:

AB061683.1 AY358757.1

2 DOTS entries:

DT.100017125 DT.75111827

5 AceView cDNA sequences:

AX747337 CA420605 AK092057 AK024728 NM_025031

highest scoring ESTs for PKD1L1:

AB061683 AI860869 AL597902 BF062285 BF368589 CN283529 NM_138295 AI016507 AL832676 AW117463

Unigene Cluster for PKD1L1:

Polycystic kidney disease 1 like 1

Hs.195979 [show with all ESTs]

Unigene Representative Sequence: NM_138295

GeneLoc Exon Structure

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000289672(uc003tny.1) ENST00000483616(uc003tob.2) ENST00000462350

ENST00000433506

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PKD1L1 expression in normal and diseased human tissues

¹ / ² / ³

2 probe-sets matching PKD1L1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1553004_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--
1563465_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

About this table
Data from Genenote (Publications) and GNF BioGPS
About these images

PKD1L1 gene electronic northern expression

About these images

CGAP SAGE TAG: TACCACACGA

SOURCE GeneReport for Unigene cluster: Hs.195979

UniProtKB/Swiss-Prot: PK1L1_HUMAN, Q8TDX9

Tissue specificity: Detected in testis and in fetal and adult heart

Primers:		OriGene genome-wide validated SYBR primer pairs: PKD1L1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PKD1L1: PPH19383A

SABiosciences Custom PCR Arrays for PKD1L1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PKD1L1 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PKD1L1¹	--	polycystic kidney disease 1 like 1	69.48(n) 60.67(a)	491575 XM_548696.2 XP_548696.2
chimpanzee (Pan troglodytes)	PKD1L1¹	--	polycystic kidney disease 1 like 1	92.83(n) 90.34(a)	463401 XM_519089.2 XP_519089.2
rat (Rattus norvegicus)	Pkd1l1¹	--	polycystic kidney disease 1 like 1	71.51(n) 60(a)	289796 XM_223624.4 XP_223624.4
mouse (Mus musculus)	Pkd1l1^{1 , 5}	11 (5.57 cM)⁵	polycystic kidney disease 1 like 1^{1, 5}	73.76(n)¹ 63.64(a)¹	171395¹ XM_126005.7¹ XP_126005.7¹ AA444596⁵ AB061684⁵ (see all 6)

About this table Species with no ortholog for PKD1L1

ENSEMBL Gene Tree for PKD1L1 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PKD1L1 gene

ENSG00000227827² PKDREJ² PKD2L2² PKD1L2² ENSG00000232329² PKD2² ENSG00000205746² PKD1²

PKD1L3² PKD2L1² PKD1P3²

PKD1L1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs753432^1,2	C,F,A,	47916225(+)	`CTGGGA/CCCTCT`	1	--	int¹		4	EA NS NA WA	172
rs876467^1,2	C,F,O,A,H,	47877366(-)	`GAATTA/GGAACT`	1	--	int¹		13	NA NS EA WA	798
rs884596^1,2	C,F,O,A,H,	47927403(+)	`CTGCTG/CGTGCC`	1	--	int¹		17	NS EA NA WA	1188
rs885337^1,2	C,F,O,A,	47971575(+)	`GTAGCA/GCACAG`	2	C	syn¹ ref¹ ese³		6	NS EA NA WA	402
rs885338^1,2	C,F,	47971626(+)	`CTTGCG/AATTAT`	2	/I	ref¹ syn¹ ese³		11	NS EA NA WA	636
rs909060^1,2	C,F,A,H,	47930433(+)	`CTGCAC/TGGGTT`	1	--	int¹		4	NS EA	410
rs909061^1,2	C,	47930469(+)	`GGACAC/TGTGCT`	1	--	int¹		4	NS EA WA	346
rs909062^1,2	C,F,A,	47930535(+)	`AAGTGC/AAGCAG`	1	--	int¹		6	NS EA WA	448
rs909063^1,2	F,A,	47931583(+)	`ATGTGT/AGATCA`	1	--	int¹		4	NS EA	410
rs921634^1,2	C,F,	47872845(+)	`GATGCG/AGGTTG`	2	/P	syn¹ ref¹ ese³		17	NS EA NA WA	986

About this table

HapMap Linkage Disequilibrium images for PKD1L1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PKD1L1: --

QIAGEN SeqTarget long-range PCR primers for resequencing PKD1L1

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PKD1L1 for disorders About GeneDecksing

OMIM: 609721

Human Gene Mutation Database (HGMD): PKD1L1
Human Genome Epidemiology (HuGE) Navigator: PKD1L1 (1 document)

Export disorders and mutations for PKD1L1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

7 PubMed articles for PKD1L1 gene integrated from 7 sources:
(articles sorted by number of sources associating them with PKD1L1)

The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human. (PubMed id 11863367)^{1, 2, 3, 7} 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, 7} Yuasa T.... Zhou J. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Molecular complexes formed with polycystins. (PubMed id 12411743)¹ Lakkis M. and Zhou J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 168507	HGNC: 18053	AceView: FLJ21075	Ensembl:ENSG00000158683	euGenes: HUgn168507
ECgene: PKD1L1	H-InvDB: PKD1L1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for PKD1L1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

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PKD1L1 Gene

protein-coding GIFtS: 48

Aliases &
Descriptions
for PKD1L1 gene

Summaries
for PKD1L1 gene

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PKD1L1 Gene

protein-coding GIFtS: 48

Aliases & Descriptionsfor PKD1L1 gene

Summariesfor PKD1L1 gene

Genomic Viewsfor PKD1L1 gene

Proteinsfor PKD1L1 gene

Protein Domains/Familiesfor PKD1L1 gene

Gene Functionfor PKD1L1 gene

Pathways & Interactionsfor PKD1L1 gene

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Transcriptsfor PKD1L1 gene

Expression for PKD1L1 gene

Orthologsfor PKD1L1 gene

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Genomic Variantsfor PKD1L1 gene

Disorders & Mutationsfor PKD1L1 gene

Medical Newsfor PKD1L1 gene

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Genome Databases showing PKD1L1 gene

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Specialized Databases showing PKD1L1 gene

Intellectual Propertyfor PKD1L1 gene

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Aliases &
Descriptions
for PKD1L1 gene

Summaries
for PKD1L1 gene

Genomic Views
for PKD1L1 gene

Proteins
for PKD1L1 gene

Protein Domains/
Families
for PKD1L1 gene

Gene Function
for PKD1L1 gene

Pathways & Interactions
for PKD1L1 gene

Drugs & Compounds
for PKD1L1 gene

Transcripts
for PKD1L1 gene

Expression
for PKD1L1 gene

Orthologs
for PKD1L1 gene

Paralogs
for PKD1L1 gene

Genomic Variants
for PKD1L1 gene

Disorders & Mutations
for PKD1L1 gene

Medical News
for PKD1L1 gene

Publications
for PKD1L1 gene

Intellectual Property
for PKD1L1 gene

Products
for PKD1L1 gene