Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	168507
Gene name	Polycystin 1 like 1, transient receptor potential channel interacting
Gene symbol	PKD1L1
Synonyms (NCBI Gene)	HTX8PRO19563
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

Show/Hide all (2)

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

Show/Hide all (11)

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

Show/Hide all (22)

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

MIM	HGNC	e!Ensembl
609721	18053	ENSG00000158683

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

Interactions

View interactions

375

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Heterotaxy	Likely pathogenic	rs2128738625	RCV001732155
Heterotaxy, visceral, 8, autosomal	Pathogenic; Likely pathogenic	rs1786435779, rs137883370, rs370984700, rs772622926, rs2128741114, rs200853469, rs867742191, rs765720584, rs528302390, rs780278874, rs757118245, rs1786877657, rs2483942654, rs200518403, rs141974473 View all (4 more)	RCV001328566 RCV002248436 RCV003228184 RCV005227798 RCV001729974 RCV006266887 RCV001782636 RCV001809274 RCV000412637 RCV003228185 RCV003228186 RCV003388653 RCV003493240 RCV003756648 RCV004787083 RCV005054479 RCV003989068 RCV004018026 RCV001260918
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
Situs inversus	Likely pathogenic; Pathogenic	rs528302390, rs1368668141	RCV000240819 RCV004018286
Visceral heterotaxy	Pathogenic	rs753911740	RCV001260918

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs17131869	RCV005923264
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs17711348	RCV005916546
Colorectal cancer	Benign	rs72601626	RCV005924853
Congenital chylothorax	Uncertain significance	rs138130715, rs2484139706, rs2483928020	RCV003986056 RCV003986093 RCV003986094
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2483974172	RCV004557890
Familial cancer of breast	Likely benign	rs144208756	RCV005931368
Familial pancreatic carcinoma	Benign	rs72601626	RCV005924852
Gastric cancer	Benign; Likely benign	rs62447080, rs34712849, rs141646493	RCV005918222 RCV005915500 RCV005908157
Hepatocellular carcinoma	Benign	rs17131893, rs73105162, rs72601626	RCV005914872 RCV005918095 RCV005924849
Lung cancer	Benign	rs73331721	RCV005912076
Lymphoma	Benign; Likely benign	rs72601626, rs141646493	RCV005924854 RCV005908158
Malignant lymphoma, large B-cell, diffuse	Benign	rs73105162	RCV005918096
Malignant tumor of esophagus	Benign; Likely benign	rs62447080, rs17131869, rs750386642	RCV005918221 RCV005923262 RCV005936776
Melanoma	Benign; Likely benign	rs141646493	RCV005908159
Nonpapillary renal cell carcinoma	Benign	rs72601626	RCV005924850
Ovarian cancer	Benign	rs17711348, rs72601626	RCV005916544 RCV005924851
Sarcoma	Benign	rs17131869	RCV005923263
Thymoma	Benign	rs72601626	RCV005924855
Uterine carcinosarcoma	Benign	rs17711348	RCV005916545

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Biliary Atresia	Associate	30664273
Breast Neoplasms	Associate	18084325
Cardiovascular Abnormalities	Associate	35474353
Ciliary Motility Disorders	Associate	32111882
Disease	Associate	30664273
Kartagener Syndrome	Associate	32111882
Kidney Failure Chronic	Associate	36422197
Laterality Defects Autosomal Dominant	Associate	35474353
Polycystic Kidney Autosomal Dominant	Associate	36422197
Renal Insufficiency Chronic	Associate	36422197
Reperfusion Injury	Associate	36253874
Situs Inversus	Associate	32111882
Thyroid Cancer Papillary	Associate	31642198

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