Gene Information
Gene NameFCYT
OrganismHomo sapiens (Human)
Gene Length4074
Protein NamesFibrocystin (Polycystic kidney and hepatic disease 1 protein) (Polyductin) (Tigmin)
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBNA
Gene CardPKHD1
Uniprot IDP08F94
PfamPF13229; PF10162; PF01833
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityPredominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain. {ECO:0000269|PubMed:14978161, ECO:0000269|PubMed:15458427}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs755654557  rs1375765328  rs137852944  rs370277502  rs149522482  rs369925690  rs749454235  rs1037991711  rs775254013  rs886042259  rs367590965  rs398124499  rs1288017883  rs778329699  rs1582038191  rs1554218506  rs750730042  rs776845008  rs186202437  rs749730748  rs45500692  rs794727366  rs1229139298  rs201432731  rs758352210  rs200654041  rs777183511  rs9370096  rs745770404  rs9370096  rs199531851  rs62406032  rs922828020  rs200986136  rs142107837  rs41273726  rs748540413  rs9296669  rs1464962854  rs1421520936  rs1197981811  rs200391019  rs28937907  rs45517932  rs141103838  rs137852946  rs1554197025  rs1288521396  rs201105958  rs777999875  rs2435322  rs202016058  rs1412045164  rs1210846081  rs180675584  rs1554144359  rs1210348558  rs761786260  rs1187112770  rs1254909885  rs759687904  rs751084512  rs200179145  rs201881567  rs201881567  rs1280884139  rs147851214  rs752994816  rs7766366  rs139555370  rs1554263080  rs1554243589  rs398124495  rs794727759  rs150925674  rs1342555536  rs142522748  rs776068047  rs760222236  rs1554220680  rs141169758  rs137852945  rs893497345  rs367678592  rs765526  rs139306706  rs142146981  rs201066635  rs1554218666  rs45503297  rs1343246818  rs200511261  rs1242089464  rs141081295  rs146519878  rs148932323  rs149798764  rs756792624  rs748863662  rs137852950  rs148617572  rs1554183496  rs139014478  rs145184792  rs751593192  rs137852948  rs41273722  rs9474034  rs76572975  rs4715227  rs2661488  rs2661487  rs146680689  rs34548196  rs199900211  rs9381994 
Subcellular location [CC]Cell membrane {ECO:0000269|PubMed:15458427};
Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:15458427}. Cell projection, cilium {ECO:0000269|PubMed:14978161, ECO:0000269|PubMed:15458427, ECO:0000269|PubMed:17470460}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:14978161}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20554582}. Chromosome, centromere {ECO:0000269|PubMed:20554582}. Apical cell membrane {ECO:0000250|UniProtKB:E9PZ36}. Nucleus {ECO:0000250|UniProtKB:E9PZ36}. Secreted, extracellular exosome {ECO:0000250|UniProtKB:E9PZ36}. Secreted {ECO:0000250|UniProtKB:E9PZ36}. Endoplasmic reticulum {ECO:0000250|UniProtKB:E9PZ36}. Golgi apparatus {ECO:0000250|UniProtKB:E9PZ36}. Note=The intracellular C-terminal fragment (ICD) translocates to the nucleus and is not detected in primary cilia (PubMed:17470460, PubMed:16956880). The extracellular domain (PECD) traffics beyond the mid-Golgi and localizes on exosome like vesicles (ELVs) attached to the primary cilium (By similarity). In the urine, the extracellular domain (PECD) exists as an highly abundant secreted form and a less abundant PECD form that is either tethered to or shed with the C-terminal fragment (PTM) in ELVs (By similarity). The majority of full length PKHD1 protein resides at the endoplasmic reticulum and cannot pass beyond the mid-Golgi apparatus and is not detected in primary cilia (By similarity). The intra-cellular C-terminal fragment of 21-kDa translocates to the nucleus. The extracellular domain traffics beyond the mid-Golgi and localizes on exosome like vesicles (ELVs) attached to the primary cilium (By similarity). {ECO:0000250|UniProtKB:E9PZ36, ECO:0000269|PubMed:16956880, ECO:0000269|PubMed:17470460}.
Mouse PG classificationNA
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