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UniProtKB - P08F94 (PKHD1_HUMAN)

Entry version 99 (07 Apr 2021)
Sequence version 1 (18 May 2010)
Previous versions | rss
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Protein

Fibrocystin

Gene

PKHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithelial cell morphogenesis regulates also cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation (PubMed:11919560). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (PubMed:30898581).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P08F94

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
FibrocystinCurated
Alternative name(s):
Polycystic kidney and hepatic disease 1 protein
Polyductin
Tigmin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PKHD11 PublicationImported
Synonyms:FCYT, TIGM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9016, PKHD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606702, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P08F94

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000170927.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini24 – 3858ExtracellularSequence analysisAdd BLAST3835
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei3859 – 3879HelicalSequence analysisAdd BLAST21
Topological domaini3880 – 4074CytoplasmicSequence analysisAdd BLAST195

Keywords - Cellular componenti

Cell membrane, Cell projection, Centromere, Chromosome, Cilium, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Golgi apparatus, Membrane, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Polycystic kidney disease 4, with or without polycystic liver disease (PKD4)9 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01852017A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs755654557Ensembl.1
Natural variantiVAR_03622819R → H in a colorectal cancer sample and PKD4; somatic mutation; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1375765328Ensembl.1
Natural variantiVAR_01403936T → M in PKD4; common mutation; also found in a patient affected by polycystic liver disease. 8 PublicationsCorresponds to variant dbSNP:rs137852944EnsemblClinVar.1
Natural variantiVAR_06641692R → W in PKD4. 1 PublicationCorresponds to variant dbSNP:rs370277502EnsemblClinVar.1
Natural variantiVAR_075540218E → K in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149522482EnsemblClinVar.1
Natural variantiVAR_014040222I → V in PKD4. 4 PublicationsCorresponds to variant dbSNP:rs369925690EnsemblClinVar.1
Natural variantiVAR_018522223G → S in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749454235EnsemblClinVar.1
Natural variantiVAR_066417246I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1037991711EnsemblClinVar.1
Natural variantiVAR_014041253F → L in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs775254013Ensembl.1
Natural variantiVAR_066418255Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs886042259EnsemblClinVar.1
Natural variantiVAR_066420293A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124499EnsemblClinVar.1
Natural variantiVAR_018523307I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1288017883EnsemblClinVar.1
Natural variantiVAR_018524326G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs778329699EnsemblClinVar.1
Natural variantiVAR_027439372F → L in PKD4. 1 Publication1
Natural variantiVAR_018525387Missing in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554218506Ensembl.1
Natural variantiVAR_066421466G → E in PKD4. 1 PublicationCorresponds to variant dbSNP:rs750730042EnsemblClinVar.1
Natural variantiVAR_066422470G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs776845008Ensembl.1
Natural variantiVAR_018527473I → S in PKD4. 1 Publication1
Natural variantiVAR_018528486Y → H in PKD4. 1 Publication1
Natural variantiVAR_018530496R → P in PKD4. 1 Publication1
Natural variantiVAR_066423539I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749730748Ensembl.1
Natural variantiVAR_018532656W → C in PKD4. 1 Publication1
Natural variantiVAR_066424686H → P in PKD4. 1 Publication1
Natural variantiVAR_018533703D → N in PKD4. 1 Publication1
Natural variantiVAR_066426724P → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1229139298Ensembl.1
Natural variantiVAR_018535739P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs758352210EnsemblClinVar.1
Natural variantiVAR_018536757I → L in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777183511EnsemblClinVar.1
Natural variantiVAR_014044760R → H in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs745770404EnsemblClinVar.1
Natural variantiVAR_018537805P → L in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs199531851EnsemblClinVar.1
Natural variantiVAR_018539899T → P in PKD4. 1 PublicationCorresponds to variant dbSNP:rs922828020Ensembl.1
Natural variantiVAR_018540997M → K in PKD4. 1 Publication1
Natural variantiVAR_0185411030A → E in PKD4. 1 Publication1
Natural variantiVAR_0140461122G → S in PKD4. 2 Publications1
Natural variantiVAR_0185421123G → S in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs142107837EnsemblClinVar.1
Natural variantiVAR_0140481249C → W in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs748540413EnsemblClinVar.1
Natural variantiVAR_0185461389P → T in PKD4. 1 Publication1
Natural variantiVAR_0140501407L → R in PKD4. 2 Publications1
Natural variantiVAR_0185471472C → Y in PKD4. 1 Publication1
Natural variantiVAR_0185481486P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1421520936Ensembl.1
Natural variantiVAR_0185491584S → I in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1197981811EnsemblClinVar.1
Natural variantiVAR_0140511624R → W in PKD4; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs200391019EnsemblClinVar.1
Natural variantiVAR_0140521664S → F in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs28937907EnsemblClinVar.1
Natural variantiVAR_0140531741V → M in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs137852946EnsemblClinVar.1
Natural variantiVAR_0185511781T → I in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554197025EnsemblClinVar.1
Natural variantiVAR_0185521789V → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1288521396EnsemblClinVar.1
Natural variantiVAR_0664281817V → G in PKD4. 1 Publication1
Natural variantiVAR_0185531833S → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201105958EnsemblClinVar.1
Natural variantiVAR_0185541838Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs777999875EnsemblClinVar.1
Natural variantiVAR_0185551867S → N in PKD4. 1 Publication1
Natural variantiVAR_0664291875V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs202016058Ensembl.1
Natural variantiVAR_0140541917Q → R in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs1412045164EnsemblClinVar.1
Natural variantiVAR_0664301928W → L in PKD4. 1 Publication1
Natural variantiVAR_0185571942D → G in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs1210846081EnsemblClinVar.1
Natural variantiVAR_0185581971G → D in PKD4. 1 PublicationCorresponds to variant dbSNP:rs180675584EnsemblClinVar.1
Natural variantiVAR_0140551995E → G in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs1554144359EnsemblClinVar.1
Natural variantiVAR_0185591998I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1210348558EnsemblClinVar.1
Natural variantiVAR_0664312009A → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs761786260Ensembl.1
Natural variantiVAR_0185602032V → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1187112770Ensembl.1
Natural variantiVAR_0664322106L → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1254909885Ensembl.1
Natural variantiVAR_0185612134L → P in PKD4. 1 Publication1
Natural variantiVAR_0664332210G → E in PKD4. 1 Publication1
Natural variantiVAR_0664342219S → L in PKD4. 1 Publication1
Natural variantiVAR_0664352224G → R in PKD4; may affect splicing. 1 PublicationCorresponds to variant dbSNP:rs759687904Ensembl.1
Natural variantiVAR_0185622303I → F in PKD4. 1 PublicationCorresponds to variant dbSNP:rs751084512EnsemblClinVar.1
Natural variantiVAR_0140562331I → K in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs200179145EnsemblClinVar.1
Natural variantiVAR_0185632422C → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201881567EnsemblClinVar.1
Natural variantiVAR_0664362422C → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs201881567EnsemblClinVar.1
Natural variantiVAR_0664372431E → V in PKD4; may affect splicing. 1 PublicationCorresponds to variant dbSNP:rs1280884139Ensembl.1
Natural variantiVAR_0664382573R → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs752994816EnsemblClinVar.1
Natural variantiVAR_0185662688C → F in PKD4. 1 Publication1
Natural variantiVAR_0185672761D → Y in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554263080EnsemblClinVar.1
Natural variantiVAR_0185682772L → P in PKD4. 1 Publication1
Natural variantiVAR_0664402798V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554243589EnsemblClinVar.1
Natural variantiVAR_0664412803C → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124495EnsemblClinVar.1
Natural variantiVAR_0664422804M → K in PKD4. 1 PublicationCorresponds to variant dbSNP:rs794727759EnsemblClinVar.1
Natural variantiVAR_0185702863Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1342555536Ensembl.1
Natural variantiVAR_0140582957I → T in PKD4. 7 PublicationsCorresponds to variant dbSNP:rs760222236EnsemblClinVar.1
Natural variantiVAR_0185722962D → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554220680EnsemblClinVar.1
Natural variantiVAR_0185732983S → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs141169758EnsemblClinVar.1
Natural variantiVAR_0140593018S → F in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs137852945EnsemblClinVar.1
Natural variantiVAR_0185743036V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs893497345EnsemblClinVar.1
Natural variantiVAR_0664433049H → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs367678592EnsemblClinVar.1
Natural variantiVAR_0185763081I → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs142146981EnsemblClinVar.1
Natural variantiVAR_0185793124H → Y in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs1554218666EnsemblClinVar.1
Natural variantiVAR_0185813167I → L in PKD4. 1 Publication1
Natural variantiVAR_0185823175N → D in PKD4. 1 Publication1
Natural variantiVAR_0185833175N → S in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1343246818EnsemblClinVar.1
Natural variantiVAR_0185843177I → T in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs200511261EnsemblClinVar.1
Natural variantiVAR_0664443207A → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1242089464EnsemblClinVar.1
Natural variantiVAR_0185853289S → I in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148932323EnsemblClinVar.1
Natural variantiVAR_0185863293D → V in PKD4. 2 Publications1
Natural variantiVAR_0185873346C → R in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149798764EnsemblClinVar.1
Natural variantiVAR_0185893468I → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs748863662EnsemblClinVar.1
Natural variantiVAR_0185903471V → G in PKD4. 1 PublicationCorresponds to variant dbSNP:rs137852950EnsemblClinVar.1
Natural variantiVAR_0185913482R → C in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs148617572EnsemblClinVar.1
Natural variantiVAR_0185923502E → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554183496EnsemblClinVar.1
Natural variantiVAR_0140613553I → T in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs137852948EnsemblClinVar.1
Natural variantiVAR_0185963622C → Y in PKD4. 1 Publication1
Natural variantiVAR_0185973783P → S in PKD4. 1 Publication1
Natural variantiVAR_0664463957R → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs146680689EnsemblClinVar.1
Loss-of-function PKHD1 variations may cause autosomal dominant polycystic liver disease (PCLD) in patients that lack variations in known causative genes, such as PRKCSH and SEC63.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi3617 – 3618KR → AA: Loss of protein convertase cleavage into a 85 kDa PTM fragment. 1 Publication2

Keywords - Diseasei

Ciliopathy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		5314

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PKHD1

MalaCards human disease database

More...MalaCardsi		PKHD1
MIMi263200, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170927

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		731, Autosomal recessive polycystic kidney disease
53035, Caroli disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33348

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P08F94, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PKHD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439717

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002206224 – 4074FibrocystinAdd BLAST4051

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi226N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi357N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi387N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi507N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi520N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi529N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi641N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi711N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi830N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi869N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi967N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi977N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1065N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1084N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1116N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1234N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1241N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1312N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1323N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1346N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1377N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1460N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1475N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1494N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1527N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1532N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1564N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1582N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1602N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1631N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1698N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1764N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1779N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1879N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1883N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1919N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1945N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1959N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2034N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2115N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2144N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2350N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2385N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2435N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2471N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2509N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2535N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2553N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2595N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2633N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2753N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2768N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3008N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3140N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3169N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3225N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3488N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3528N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3707N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3726N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3838N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Several proteolytic cleavages occur within the extracellular domain, whereas at least one cleavage occurs within the cytoplasmic domain (PubMed:16956880). Cleaved by a probable proprotein convertase which produces an extracellular domain (polyductin extracellular domain, (PECD)) and a C-terminal fragment (polyductin transmembrane fragment (PTM)) which are tethered together by disulfide bonds (PubMed:17470460). This extracellular domain (PECD) is then shed from the primary cilium by activation of a member of the ADAM metalloproteinase disintegrins family, resulting in concomitant release of an intra-cellular C-terminal fragment (ICD) via a gamma-secretase-dependent process (PubMed:17470460). The proteolytic cleavage of the C-terminal intracellular fragment (ICD) is controlled by cytosolic calcium concentration and activation of PKC (PubMed:16956880).2 Publications
Palmitoylated. Palmitoylation facilitates membrane targeting and the trafficking to the cilia.By similarity
N-glycosylated.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei3620 – 3621Cleavage1 Publication2

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P08F94

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P08F94

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P08F94

PeptideAtlas

More...PeptideAtlasi		P08F94

PRoteomics IDEntifications database

More...PRIDEi		P08F94

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52181 [P08F94-1]
52182 [P08F94-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P08F94, 64 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P08F94

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P08F94

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly 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.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170927, Expressed in kidney epithelium and 57 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P08F94, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170927, Group enriched (epididymis, kidney, pancreas)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CAMLG (PubMed:16243292).

Interacts with PKD2 (PubMed:18235088).

Interacts (via CST) with ARF4; this interaction allows an efficient PKHD1 trafficking to the cilium.

Interacts (via CST) with RAB8A; this interaction controls trafficking through the endomembrane systeme and the cilium.

Interacts (via CST) with TULP3; this interaction allows PKHD1 trafficking to the cilium (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111331, 9 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P08F94

Protein interaction database and analysis system

More...IntActi		P08F94, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360158

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P08F94, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini24 – 111IPT/TIG 1; atypicalAdd BLAST88
Domaini137 – 232IPT/TIG 2Add BLAST96
Domaini259 – 335IPT/TIG 3Add BLAST77
Domaini322 – 485PA14PROSITE-ProRule annotationAdd BLAST164
Domaini931 – 1015IPT/TIG 4Add BLAST85
Domaini1019 – 1103IPT/TIG 5Add BLAST85
Domaini1108 – 1192IPT/TIG 6; atypicalAdd BLAST85
Domaini1196 – 1289IPT/TIG 7Add BLAST94
Domaini1301 – 1382IPT/TIG 8; atypicalAdd BLAST82
Domaini1389 – 1481IPT/TIG 9Add BLAST93
Domaini1486 – 1570IPT/TIG 10Add BLAST85
Domaini1573 – 1659IPT/TIG 11Add BLAST87
Domaini1658 – 1742IPT/TIG 12; atypicalAdd BLAST85
Domaini1932 – 2053G8 1PROSITE-ProRule annotationAdd BLAST122
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati2226 – 2248PbH1 1Add BLAST23
Repeati2249 – 2271PbH1 2Add BLAST23
Repeati2292 – 2325PbH1 3Add BLAST34
Repeati2326 – 2347PbH1 4Add BLAST22
Repeati2409 – 2431PbH1 5Add BLAST23
Repeati2469 – 2502PbH1 6Add BLAST34
Domaini2747 – 2873G8 2PROSITE-ProRule annotationAdd BLAST127
Repeati3010 – 3032PbH1 7Add BLAST23
Repeati3033 – 3055PbH1 8Add BLAST23
Repeati3086 – 3108PbH1 9Add BLAST23

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni3876 – 3893Ciliary targeting sequence (CST)By similarityAdd BLAST18
Regioni3952 – 3976Nuclear localization signal (NLS)By similarityAdd BLAST25

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR85, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160697

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000057_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P08F94

Identification of Orthologs from Complete Genome Data

More...OMAi		ETVHNAD

Database of Orthologous Groups

More...OrthoDBi		323806at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P08F94

TreeFam database of animal gene trees

More...TreeFami		TF329582

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.160.20.10, 2 hits
2.60.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039448, Beta_helix
IPR019316, G8_domain
IPR013783, Ig-like_fold
IPR014756, Ig_E-set
IPR002909, IPT_dom
IPR037524, PA14/GLEYA
IPR006626, PbH1
IPR012334, Pectin_lyas_fold
IPR011050, Pectin_lyase_fold/virulence
IPR028839, PKHD1

The PANTHER Classification System

More...PANTHERi		PTHR46769:SF1, PTHR46769:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13229, Beta_helix, 2 hits
PF10162, G8, 2 hits
PF01833, TIG, 7 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01225, G8, 2 hits
SM00429, IPT, 6 hits
SM00710, PbH1, 10 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51126, SSF51126, 2 hits
SSF81296, SSF81296, 6 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51484, G8, 2 hits
PS51820, PA14, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist. As a matter of fact, alternatively spliced products seem to fall into two broad groups: one group, which includes the longest continuous ORF but which may also include molecules lacking some middle domains, has a single TM element and is likely to be associated with the plasma membrane. The other group lacks a TM domain and thus its members may be secreted.
Isoform 1 (identifier: P08F94-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTAWLISLMS IEVLLLAVRH LSLHIEPEEG SLAGGTWITV IFDGLELGVL 
        60         70         80         90        100
YPNNGSQLEI HLVNVNMVVP ALRSVPCDVF PVFLDLPVVT CRTRSVLSEA 
       110        120        130        140        150
HEGLYFLEAY FGGQLVSSPN PGPRDSCTFK FSKAQTPIVH QVYPPSGVPG 
       160        170        180        190        200
KLIHVYGWII TGRLETFDFD AEYIDSPVIL EAQGDKWVTP CSLINRQMGS 
       210        220        230        240        250
CYPIQEDHGL GTLQCHVEGD YIGSQNVSFS VFNKGKSMVH KKAWLISAKQ 
       260        270        280        290        300
DLFLYQTHSE ILSVFPETGS LGGRTNITIT GDFFDNSAQV TIAGIPCDIR 
       310        320        330        340        350
HVSPRKIECT TRAPGKDVRL TTPQPGNRGL LFEVGDAVEG LELTEATPGY 
       360        370        380        390        400
RWQIVPNASS PFGFWSQEGQ PFRARLSGFF VAPETNNYTF WIQADSQASL 
       410        420        430        440        450
HFSWSEEPRT KVKVASISVG TADWFDSWEQ NRDEGTWQQK TPKLELLGGA 
       460        470        480        490        500
MYYLEAEHHG IAPSRGMRIG VQIHNTWLNP DVVTTYLREK HQIRVRAQRL 
       510        520        530        540        550
PEVQVLNVSG RGNFFLTWDN VSSQPIPANA TAHLIQTTIE ELLAVKCKLE 
       560        570        580        590        600
PLWSNILLRL GFERGPEVSN SDGDLTSGTE PFCGRFSLRQ PRHLVLTPPA 
       610        620        630        640        650
AQKGYRLDQY THLCLAYKGH MNKILKMIVS FTIGFQNMVK NTTCDWSLTR 
       660        670        680        690        700
TSPESWQFDC TDLWETCVRC FGDLQPPPAN SPVLVHQINL LPLAQETGLF 
       710        720        730        740        750
YVDEIIIADT NVTVSQADSG TARPGGNLVE SVSVVGSPPV YSVTSWLAGC 
       760        770        780        790        800
GTELPLITAR SVPTEGTEEG SGLVLVTTQR RQRTSPPLGG HFRIQLPNTV 
       810        820        830        840        850
ISDVPVQISA HHLHQLLQNN ADDFTSRYLN ASDFTVKEDL YTCYEHVWTL 
       860        870        880        890        900
SWSTQIGDLP NFIRVSDENL TGVNPAAATR VVYDGGVFLG PIFGDMLATA 
       910        920        930        940        950
NQHTQVVVRV NDVPAHCPGS CSFQYLQGST PCVHSVWYSI DGDINLMIYI 
       960        970        980        990       1000
TGTGFSGDSQ FLQVTVNKTS CKVIFSNQTN VVCQTDLLPV GMHRILMLVR 
      1010       1020       1030       1040       1050
PSGLAISATG EDLFLNVKPR LDMVEPSRAA DIGGLWATIR GSSLEGVSLI 
      1060       1070       1080       1090       1100
LFGSYSCAIN VATSNSSRIQ CKVPPRGKDG RIVNVTVIRG DYSAVLPRAF 
      1110       1120       1130       1140       1150
TYVSSLNPVI VTLSRNISNI AGGETLVIGV ARLMNYTDLD VEVHVQDALA 
      1160       1170       1180       1190       1200
PVHTQSAWGL EVALPPLPAG LHRISVSING VSIHSQGVDL HIQYLTEVFS 
      1210       1220       1230       1240       1250
IEPCCGSLLG GTILSISGIG FSRDPALVWV LVGNRSCDIV NLTEASIWCE 
      1260       1270       1280       1290       1300
TLPAPQIPDA GAPTVPAAVE VWAGNRFFAR GPSPSLVGKG FTFMYEAAAT 
      1310       1320       1330       1340       1350
PVVTAMQGEI TNSSLSLHVG GSNLSNSVIL LGNLNCDVET QSFQGNVSLS 
      1360       1370       1380       1390       1400
GCSIPLHSLE AGIYPLQVRQ KQMGFANMSV VLQQFAVMPR IMAIFPSQGS 
      1410       1420       1430       1440       1450
ACGGTILTVR GLLLNSRRRS VRVDLSGPFT CVILSLGDHT ILCQVSLEGD 
      1460       1470       1480       1490       1500
PLPGASFSLN VTVLVNGLTS ECQGNCTLFI REEASPVMDA LSTNTSGSLT 
      1510       1520       1530       1540       1550
TVLIRGQRLA TTADEPMVFV DDQLPCNVTF FNASHVVCQT RDLAPGPHYL 
      1560       1570       1580       1590       1600
SVFYTRNGYA CSGNVSRHFY IMPQVFHYFP KNFSLHGGSL LTIEGTGLRG 
      1610       1620       1630       1640       1650
QNTTSVYIDQ QTCLTVNIGA ELIRCIVPTG NGSVALEIEV DGLWYHIGVI 
      1660       1670       1680       1690       1700
GYNKAFTPEL ISISQSDDIL TFAVAQISGA ANIDIFIGMS PCVGVSGNHT 
      1710       1720       1730       1740       1750
VLQCVVPSLP AGEYHVRGYD CIRGWASSAL VFTSRVIITA VTENFGCLGG 
      1760       1770       1780       1790       1800
RLVHVFGAGF SPGNVSAAVC GAPCRVLANA TVSAFSCLVL PLDVSLAFLC 
      1810       1820       1830       1840       1850
GLKREEDSCE AARHTYVQCD LTVAMATEQL LESWPYLYIC EESSQCLFVP 
      1860       1870       1880       1890       1900
DHWAESMFPS FSGLFISPKL ERDEVLIYNS SCNITMETEA EMECETPNQP 
      1910       1920       1930       1940       1950
ITVKITEIRK RWGQNTQGNF SLQFCRRWSR THSWFPERLP QDGDNVTVEN 
      1960       1970       1980       1990       2000
GQLLLLDTNT SILNLLHIKG GKLIFMAPGP IELRAHAILV SDGGELRIGS 
      2010       2020       2030       2040       2050
EDKPFQGRAQ ITLYGSSYST PFFPYGVKFL AVRNGTLSLH GSLPEVIVTC 
      2060       2070       2080       2090       2100
LRATAHALDT VLALEDAVDW NPGDEVVIIS GTGVKGAKPM EEIVTVETVQ 
      2110       2120       2130       2140       2150
DTDLYLKSPL RYSHNFTENW VAGEHHILKA TVALLSRSIT IQGNLTNERE 
      2160       2170       2180       2190       2200
KLLVSCQEAN APEGNLQHCL YSMSEKMLGS RDMGARVIVQ SFPEEPSQVQ 
      2210       2220       2230       2240       2250
LKGVQFQVLG QAFHKHLSSL TLVGAMRESF IQGCTVRNSF SRGLSMCGTL 
      2260       2270       2280       2290       2300
GLKVDSNVFY NILGHALLVG TCTEMRYISW EAIHGRKDDW SGHGNIIRNN 
      2310       2320       2330       2340       2350
VIIQVSGAEG LSNPEMLTPS GIYICSPTNV IEGNRVCGAG YGYFFHLMTN 
      2360       2370       2380       2390       2400
QTSQAPLLSF TQNIAHSCTR YGLFVYPKFQ PPWDNVTGTT LFQSFTVWES 
      2410       2420       2430       2440       2450
AGGAQIFRSS NLRLKNFKVY SCRDFGIDVL ESDANTSVTD SLLLGHFAHK 
      2460       2470       2480       2490       2500
GSLCMSSGIK TPKRWELMVS NTTFVNFDLI NCVAIRTCSD CSQGQGGFTV 
      2510       2520       2530       2540       2550
KTSQLKFTNS SNLVAFPFPH AAILEDLDGS LSGKNRSHIL ASMETLSASC 
      2560       2570       2580       2590       2600
LVNSSFGRVV HGSACGGGVL FHRMSIGLAN TPEVSYDLTM TDSRNKTTTV 
      2610       2620       2630       2640       2650
NYVRDTLSNP RGWMALLLDQ ETYSLQSENL WINRSLQYSA TFDNFAPGNY 
      2660       2670       2680       2690       2700
LLLVHTDLPP YPDILLRCGS RVGLSFPFLP SPGQNQGCDW FFNSQLRQLT 
      2710       2720       2730       2740       2750
YLVSGEGQVQ VILRVKEGMP PTISASTSAP ESALKWSLPE TWQGVEEGWG 
      2760       2770       2780       2790       2800
GYNNTIPGPG DDVLILPNRT VLVDTDLPFF KGLYVMGTLD FPVDRSNVLS 
      2810       2820       2830       2840       2850
VACMVIAGGE LKVGTLENPL EKEQKLLILL RASEGVFCDR MNGIHIDPGT 
      2860       2870       2880       2890       2900
IGVYGKVHLY SAYPKNSWTH LGADIASGNE RIIVEDAVDW RPHDKIVLSS 
      2910       2920       2930       2940       2950
SSYEPHEAEV LTVKEVKGHH VRIYERLKHR HIGSVHVTED GRHIRLAAEV 
      2960       2970       2980       2990       3000
GLLTRNIQIQ PDVSCRGRLF VGSFRKSSRE EFSGVLQLLN VEIQNFGSPL 
      3010       3020       3030       3040       3050
YSSVEFSNVS AGSWIISSTL HQSCGGGIHA AASHGVLLND NIVFGTAGHG 
      3060       3070       3080       3090       3100
IDLEGQAYTV TNNLVVLMTQ PAWSTIWVAG IKVNQVKDIN LHGNVVAGSE 
      3110       3120       3130       3140       3150
RLGFHIRGHK CSSCELLWSD NVAHSSLHGL HLYKESGLDN CTRISGFLAF 
      3160       3170       3180       3190       3200
KNFDYGAMLH VENSVEIENI TLVDNTIGLL AVVYVFSAPQ NSVKKVQIVL 
      3210       3220       3230       3240       3250
RNSVIVATSS SFDCIQDKVK PHSANLTSTD RAPSNPRGGR IGILWPVFTS 
      3260       3270       3280       3290       3300
EPNQWPQEPW HKVRNDHSIS GIMKLQDVTF SSFVKSCYSD DLDVCILPNA 
      3310       3320       3330       3340       3350
ENSGIMHPIT AERTRMLKIK DKNKFYFPSL QPRKDLGKVV CPELDCASPR 
      3360       3370       3380       3390       3400
KYLFKDLDGR ALGLPPPVSV FPKTEAEWTA SFFNAGTFRE EQKCTYQFLM 
      3410       3420       3430       3440       3450
QGFICKQTDQ VVLILDSADA IWAIQKLYPV VSVTSGFVDV FSSVNANIPC 
      3460       3470       3480       3490       3500
STSGSVSTFY SILPIRQITK VCFMDQTPQV LRFFLLGNKS TSKLLLAVFY 
      3510       3520       3530       3540       3550
HELQSPHVFL GESFIPPTLV QSASLLLNES IGANYFNIMD NLLYVVLQGE 
      3560       3570       3580       3590       3600
EPIEIRSGVS IHLALTVMVS VLEKGWEIVI LERLTNFLQI GQNQIRFIHE 
      3610       3620       3630       3640       3650
MPGHEETLKA IADSRAKRKR NCPTVTCTSH YRRVGQRRPL MMEMNSHRAS 
      3660       3670       3680       3690       3700
PPMTVETISK VIVIEIGDSP TVRSTGMISS LSSNKLQNLA HRVITAQQTG 
      3710       3720       3730       3740       3750
VLENVLNMTI GALLVTQSKG VIGYGNTSSF KTGNLIYIRP YALSILVQPS 
      3760       3770       3780       3790       3800
DGEVGNELPV QPQLVFLDEQ NRRVESLGPP SEPWTISASL EGASDSVLKG 
      3810       3820       3830       3840       3850
CTQAETQDGY VSFYNLAVLI SGSNWHFIFT VTSPPGVNFT ARSKPFAVLP 
      3860       3870       3880       3890       3900
VTRKEKSTII LAASLSSVAS WLALSCLVCC WLKRSKSRKT KPEEIPESQT 
      3910       3920       3930       3940       3950
NNQNIHIHIS SKRRESQGPK KEDTVVGEDM RMKVMLGKVN QCPHQLMNGV 
      3960       3970       3980       3990       4000
SRRKVSRHIV REEEAAVPAP GTTGITSHGH ICAPGAPAQQ VYLQETGNWK 
      4010       4020       4030       4040       4050
EGQEQLLRYQ LAGQNQLLLL CPDFRQERQQ LPGQSRLSKQ SGSLGLSQEK 
      4060       4070 
KASCGATEAF CLHSVHPETI QEQL
Length:4,074
Mass (Da):446,702
Last modified:May 18, 2010 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i719AA72F1203EDE1
GO
Isoform 2 (identifier: P08F94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3386-3396: GTFREEQKCTY → VTTEQALKISE
     3397-4074: Missing.

Show »
Length:3,396
Mass (Da):371,654
Checksum:iCED8655BAA11B05F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01852017A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs755654557Ensembl.1
Natural variantiVAR_03622819R → H in a colorectal cancer sample and PKD4; somatic mutation; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1375765328Ensembl.1
Natural variantiVAR_01852125I → V1 Publication1
Natural variantiVAR_01403936T → M in PKD4; common mutation; also found in a patient affected by polycystic liver disease. 8 PublicationsCorresponds to variant dbSNP:rs137852944EnsemblClinVar.1
Natural variantiVAR_06641692R → W in PKD4. 1 PublicationCorresponds to variant dbSNP:rs370277502EnsemblClinVar.1
Natural variantiVAR_075540218E → K in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149522482EnsemblClinVar.1
Natural variantiVAR_014040222I → V in PKD4. 4 PublicationsCorresponds to variant dbSNP:rs369925690EnsemblClinVar.1
Natural variantiVAR_018522223G → S in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749454235EnsemblClinVar.1
Natural variantiVAR_066417246I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1037991711EnsemblClinVar.1
Natural variantiVAR_014041253F → L in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs775254013Ensembl.1
Natural variantiVAR_066418255Y → C in PKD4. 1 PublicationCorresponds to variant dbSNP:rs886042259EnsemblClinVar.1
Natural variantiVAR_066419292I → V in a patient with polycystic kidney disease. 1 PublicationCorresponds to variant dbSNP:rs367590965Ensembl.1
Natural variantiVAR_066420293A → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs398124499EnsemblClinVar.1
Natural variantiVAR_018523307I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1288017883EnsemblClinVar.1
Natural variantiVAR_018524326G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs778329699EnsemblClinVar.1
Natural variantiVAR_027439372F → L in PKD4. 1 Publication1
Natural variantiVAR_018525387Missing in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1554218506Ensembl.1
Natural variantiVAR_018526457E → D1 Publication1
Natural variantiVAR_066421466G → E in PKD4. 1 PublicationCorresponds to variant dbSNP:rs750730042EnsemblClinVar.1
Natural variantiVAR_066422470G → V in PKD4. 1 PublicationCorresponds to variant dbSNP:rs776845008Ensembl.1
Natural variantiVAR_018527473I → S in PKD4. 1 Publication1
Natural variantiVAR_018528486Y → H in PKD4. 1 Publication1
Natural variantiVAR_018529488R → P. 1
Natural variantiVAR_080923496 – 4074Missing Found in a patient affected by polycystic liver disease; unknown pathological significance. 1 PublicationAdd BLAST3579
Natural variantiVAR_018530496R → P in PKD4. 1 Publication1
Natural variantiVAR_066423539I → T in PKD4. 1 PublicationCorresponds to variant dbSNP:rs749730748Ensembl.1
Natural variantiVAR_018531579T → M2 PublicationsCorresponds to variant dbSNP:rs45500692EnsemblClinVar.1
Natural variantiVAR_018532656W → C in PKD4. 1 Publication1
Natural variantiVAR_066424686H → P in PKD4. 1 Publication1
Natural variantiVAR_018533703D → N in PKD4. 1 Publication1
Natural variantiVAR_066425723R → C1 PublicationCorresponds to variant dbSNP:rs794727366EnsemblClinVar.1
Natural variantiVAR_066426724P → R in PKD4. 1 PublicationCorresponds to variant dbSNP:rs1229139298Ensembl.1
Natural variantiVAR_018534732V → F1 PublicationCorresponds to variant dbSNP:rs201432731EnsemblClinVar.1
Natural variantiVAR_018535739P → L in PKD4. 1 PublicationCorresponds to variant dbSNP:rs758352210EnsemblClinVar.1
Natural variantiVAR_014042752T → M1 PublicationCorresponds to variant dbSNP:rs200654041EnsemblClinVar.1
Natural variantiVAR_018536757I → L in PKD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777183511EnsemblClinVar.1
Natural variantiVAR_014043760R → C3 PublicationsCorresponds to variant dbSNP:rs9370096EnsemblClinVar.1
Natural variantiVAR_014044760R → H in PKD4. 2 PublicationsCorresponds to variant dbSNP:rs745770404EnsemblClinVar.1
Natural variantiVAR_051282760R → W. Corresponds to variant dbSNP:rs9370096EnsemblClinVar.1
Natural variantiVAR_018537805P → L in PKD4. 3 PublicationsCorresponds to variant dbSNP:rs199531851EnsemblClinVar.1
Natural variantiVAR_018538830N → S3 Publications