PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)

Gene

• Entrez ID: 168507
• Gene name: Polycystin 1 like 1, transient receptor potential channel interacting
• Gene symbol: PKD1L1
• Synonyms (NCBI Gene): HTX8, PRO19563
• Chromosome: 7
• Chromosome location: 7p12.3
• Summary: 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 reproducti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs528302390	AC>-	Pathogenic	Splice donor variant, intron variant
rs886037834	C>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023957	hsa-miR-1-3p	Microarray	18668037
MIRT1237229	hsa-miR-4793-5p	CLIP-seq
MIRT2297119	hsa-miR-1324	CLIP-seq
MIRT2392572	hsa-miR-1262	CLIP-seq
MIRT2392573	hsa-miR-1293	CLIP-seq
MIRT2392574	hsa-miR-3147	CLIP-seq
MIRT2392575	hsa-miR-4425	CLIP-seq
MIRT2392576	hsa-miR-4483	CLIP-seq
MIRT2392577	hsa-miR-4687-3p	CLIP-seq
MIRT2392578	hsa-miR-4701-3p	CLIP-seq
MIRT2392579	hsa-miR-647	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003127	Process	Detection of nodal flow	ISS
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	24336289
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	11863367
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034704	Component	Calcium channel complex	IDA	24336289
GO:0042995	Component	Cell projection	IEA
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0060170	Component	Ciliary membrane	IDA	38247840
GO:0060170	Component	Ciliary membrane	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070986	Process	Left/right axis specification	ISS
GO:0097730	Component	Non-motile cilium	IDA	24336289
GO:0098609	Process	Cell-cell adhesion	NAS	11863367

Other IDs

• MIM: 609721
• HGNC: 18053
• e!Ensembl: ENSG00000158683

Protein

• UniProt ID: Q8TDX9
• Protein name: Polycystin-1-like protein 1 (Polycystin-1L1) (PC1-like 1 protein) (Polycystic kidney disease protein 1-like 1)
• Protein function: Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and GLI2 tr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00801	PKD	594 → 663	PKD domain	Domain
  PF02010	REJ	702 → 1325	REJ domain	Family
  PF01477	PLAT	1798 → 1913	PLAT/LH2 domain	Domain
  PF08016	PKD_channel	2441 → 2673	Polycystin cation channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in testis and in fetal and adult heart. {ECO:0000269|PubMed:11863367}.
• Sequence:

  MAEEAAQNISDDQERCLQAACCLSFGGELSVSTDKSWGLHLCSCSPPGGGLWVEVYANHV
  LLMSDGKCGCPWCALNGKAEDRESQSPSSSASRQKNIWKTTSEAALSVVNEKTQAVVNEK
  TQAPLDCDNSADRIPHKPFIIIARAWSSGGPRFHHRRLCATGTADSTFSALLQLQGTTSA
  AAPCSLKMEASCCVLRLLCCAEDVATGLLPGTVTMETPTKVARPTQTSSQRVPLWPISHF
  PTSPRSSHGLPPGIPRTPSFTASQSGSEILYPPTQHPPVAILARNSDNFMNPVLNCSLEV
  EARAPPNLGFRVHMASGEALCLMMDFGDSSGVEMRLHNMSEAMAVTAYHQYSKGIFFHLL
  HFQLDMSTYKEAETQNTTLNVYLCQSENSCLEDSDPSNLGYELISAFVTKGVYMLKAVIY
  NEFHGTEVELGPYYVEIGHEAVSAFMNSSSVHEDEVLVFADSQVNQKSTVVIHHFPSIPS
  YNVSFISQTQVGDSQAWHSMTVWYKMQSVSVYTNGTVFATDTDITFTAVTKETIPLEFEW
  YFGEDPPVRTTSRSIKKRLSIPQWYRVMVKASNRMSSVVSEPHVIRVQKKIVANRLTSPS
  SALVNASVAFECWINFGTDVAYLWDFGDGTVSLGSSSSSHVYSREGEFTVEVLAFNNVSA
  STLRQQLFIVCEPCQPPLVKNMGPGKVQIWRSQPVRLGVTFEAAVFCDISQGLSYTWNLM
  DSEGLPVSLPAAVDTHRQTLILPSHTLEYGNYTALAKVQIEGSVVYSNYCVGLEVRAQAP
  VSVISEGTHLFFSRTTSSPIVLRGTQSFDPDDPGATLRYHWECATAGSPAHPCFDSSTAH
  QLDAAAPTVSFEAQWLSDSYDQFLVMLRVSSGGRNSSETRVFLSPYPDSAFRFVHISWVS
  FKDTFVNWNDELSLQAMCEDCSEIPNLSYSWDLFLVNATEKNRIEVPFCRVVGLLGSLGL
  GAISESSQLNLLPTEPGTADPDATTTPFSREPSPVTLGQPATSAPRGTPTEPMTGVYWIP
  PAGDSAVLGEAPEEGSLDLEPGPQSKGSLMTGRSERSQPTHSPDPHLSDFEAYYSDIQEA
  IPSGGRQPAKDTSFPGSGPSLSAEESPGDGDNLVDPSLSAGRAEPVLMIDWPKALLGRAV
  FQGYSSSGITEQTVTIKPYSLSSGETYVLQVSVASKHGLLGKAQLYLTVNPAPRDMACQV
  QPHHGLEAHTVFSVFCMSGKPDFHYEFSYQIGNTSKHTLYHGRDTQYYFVLPAGEHLDNY
  KVMVSTEITDGKGSKVQPCTVVVTVLPRYHGNDCLGEDLYNSSLKNLSTLQLMGSYTEIR
  NYITVITRILSRLSKEDKTASCNQWSRIQDALISSVCRLAFVDQEEMIGSVLMLRDLVSF
  SNKLGFMSAVLILKYTRALLAQGQFSGPFVIDKGVRLELIGLISRVWEVSEQENSKEEVY
  RHEEGITVISDLLLGCLSLNHVSTGQMEFRTLLHYNLQSSVQSLGSVQVHLPGDLAGHSP
  AGAETQSPCYISQLILFKKNPYPGSQAPGQIGGVVGLNLYTCSSRRPINRQWLRKPVMVE
  FGEEDGLDNRRNKTTFVLLRDKVNLHQFTELSENPQESLQIEIEFSKPVTRAFPVMLLVR
  FSEKPTPSDFLVKQIYFWDESIVQIYIPAASQKDASVGYLSLLDADYDRKPPNRYLAKAV
  NYTVHFQWIRCLFWDKREWKSERFSPQPGTSPEKVNCSYHRLAAFALLRRKLKASFEVSD
  ISKLQSHPENLLPSIFIMGSVILYGFLVAKSRQVDHHEKKKAGYIFLQEASLPGHQLYAV
  VIDTGFRAPARLTSKVYIVLCGDNGLSETKELSCPEKPLFERNSRHTFILSAPAQLGLLR
  KIRLWHDSRGPSPGWFISHVMVKELHTGQGWFFPAQCWLSAGRHDGRVERELTCLQGGLG
  FRKLFYCKFTEYLEDFHVWLSVYSRPSSSRYLHTPRLTVSFSLLCVYACLTALVAAGGQE
  QPHLDVSPTLGSFRVGLLCTLLASPGAQLLSLLFRLSKEAPGSARVEPHSPLRGGAQTEA
  PHGPNSWGRIPDAQEPRKQPASAILSGSGRAQRKAASDNGTACPAPKLQVHGADHSRTSL
  MGKSHCCPPHTQAPSSGLEGLMPQWSRALQPWWSSAVWAICGTASLACSLGTGFLAYRFG
  QEQCVQWLHLLSLSVVCCIFITQPLMVCLMALGFAWKRRADNHFFTESLCEATRDLDSEL
  AERSWTRLPFSSSCSIPDCAGEVEKVLAARQQARHLRWAHPPSKAQLRGTRQRMRRESRT
  RAALRDISMDILMLLLLLCVIYGRFSQDEYSLNQAIRKEFTRNARNCLGGLRNIADWWDW
  SLTTLLDGLYPGGTPSARVPGAQPGALGGKCYLIGSSVIRQLKVFPRHLCKPPRPFSALI
  EDSIPTCSPEVGGPENPYLIDPENQNVTLNGPGGCGTREDCVLSLGRTRTEAHTALSRLR
  ASMWIDRSTRAVSVHFTLYNPPTQLFTSVSLRVEILPTGSLVPSSLVESFSIFRSDSALQ
  YHLMLPQLVFLALSLIHLCVQLYRMMDKGVLSYWRKPRNWLELSVVGVSLTYYAVSGHLV
  TLAGDVTNQFHRGLCRAFMDLTLMASWNQRARWLRGILLFLFTLKCVYLPGIQNTMASCS
  SMMRHSLPSIFVAGLVGALMLAALSHLHRFLLSMWVLPPGTFTDAFPGLLFHFPRRSQKD
  CLLGLSKSDQRAMACYFGILLIVSATLCFGMLRGFLMTLPQKRKSFQSKSFVRLKDVTAY
  MWEKVLTFLRLETPKLEEAEMVENHNYYLDEFANLLDELLMKINGLSDSLQLPLLEKTSN
  NTGEARTEESPLVDISSYQAAEPADIKDF

• Sequence length: 2849

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Heterotaxy	Likely pathogenic	rs2128738625	RCV001732155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy, visceral, 8, autosomal	Pathogenic; Likely pathogenic	rs1786435779, rs137883370, rs370984700, rs772622926, rs2128741114, rs200853469, rs867742191, rs765720584, rs528302390, rs780278874, rs757118245, rs1786877657, rs2483942654, rs200518403, rs141974473, rs746133743, rs2483884719, rs1784643052, rs753911740	RCV001328566 RCV002248436 RCV003228184 RCV005227798 RCV001729974 RCV006266887 RCV001782636 RCV001809274 RCV000412637 RCV003228185 RCV003228186 RCV003388653 RCV003493240 RCV003756648 RCV004787083 RCV005054479 RCV003989068 RCV004018026 RCV001260918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PKD1L1-related disorder	Pathogenic; Likely pathogenic	rs200853469, rs544774439, rs528302390, rs948915766, rs199776435, rs2484097162, rs1463074700, rs971735211, rs1562988323, rs1787156507, rs769346811, rs141974473, rs1007145713, rs1787715929, rs746133743	RCV003913363 RCV004750300 RCV003401160 RCV003414118 RCV003410729 RCV003400119 RCV003412241 RCV003405821 RCV003393202 RCV003393242 RCV003894617 RCV003944207 RCV003961780 RCV003959517 RCV003954888	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Situs inversus	Likely pathogenic; Pathogenic	rs528302390, rs1368668141	RCV000240819 RCV004018286	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visceral heterotaxy	Pathogenic	rs753911740	RCV001260918	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHYLOTHORAX, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chylothorax	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Biliary Atresia	Biliary atresia	Pubtator	30664273	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18084325	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	35474353	Associate	★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	32111882	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	31026592		★☆☆☆☆ Found in Text Mining only
Congenitally corrected transposition of the great arteries with ventricular septal defect	Congenitally corrected transposition of the great arteries with ventricular septal defect	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
HETEROTAXY, VISCERAL, 8, AUTOSOMAL	Heterotaxy, Visceral	UNIPROT_DG	27616478		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HETEROTAXY, VISCERAL, 8, AUTOSOMAL	Heterotaxy, Visceral	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HETEROTAXY, VISCERAL, 8, AUTOSOMAL	Heterotaxy, Visceral	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HETEROTAXY, VISCERAL, 8, AUTOSOMAL	Heterotaxy, Visceral	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	36422197	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	36422197	Associate	★☆☆☆☆ Found in Text Mining only
Right aortic arch (disorder)	Right aortic arch	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Situs ambiguous	Situs ambiguus	ORPHANET_DG	27616478		★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	ORPHANET_DG	27616478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	BEFREE	31026592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	ORPHANET_DG	27616478		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs Inversus	CLINVAR_DG	27616478		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs inversus	Pubtator	32111882	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs Inversus	Situs Inversus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Situs inversus totalis	Situs Inversus	CLINVAR_DG	27616478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31642198	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	CLINVAR_DG	27616478		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only