Entity Details

Primary name PKHD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP08F94
EntryNamePKHD1_HUMAN
FullNameFibrocystin
TaxID9606
Evidenceevidence at protein level
Length4074
SequenceStatuscomplete
DateCreated2010-05-18
DateModified2021-06-02

Ontological Relatives

GenesPKHD1

GO terms

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GOName
GO:0000132 establishment of mitotic spindle orientation
GO:0000775 chromosome, centromeric region
GO:0001822 kidney development
GO:0001952 regulation of cell-matrix adhesion
GO:0003382 epithelial cell morphogenesis
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005929 cilium
GO:0006874 cellular calcium ion homeostasis
GO:0008284 positive regulation of cell population proliferation
GO:0010824 regulation of centrosome duplication
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0022407 regulation of cell-cell adhesion
GO:0030155 regulation of cell adhesion
GO:0031362 anchored component of external side of plasma membrane
GO:0032006 regulation of TOR signaling
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0036064 ciliary basal body
GO:0038023 signaling receptor activity
GO:0042592 homeostatic process
GO:0043066 negative regulation of apoptotic process
GO:0045216 cell-cell junction organization
GO:0048471 perinuclear region of cytoplasm
GO:0048754 branching morphogenesis of an epithelial tube
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051271 negative regulation of cellular component movement
GO:0051660 establishment of centrosome localization
GO:0051898 negative regulation of protein kinase B signaling
GO:0060271 cilium assembly
GO:0070062 extracellular exosome
GO:0070372 regulation of ERK1 and ERK2 cascade
GO:0072686 mitotic spindle
GO:0090175 regulation of establishment of planar polarity
GO:0097731 9+0 non-motile cilium
GO:0098609 cell-cell adhesion
GO:1904036 negative regulation of epithelial cell apoptotic process
GO:1904054 regulation of cholangiocyte proliferation

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell membrane
Cell projection
Chromosome
Cytoplasm
Endoplasmic reticulum
Golgi apparatus
Nucleus
Secreted

Domains

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DomainNameCategoryType
IPR002909 IPT domainDomainDomain
IPR006626 Parallel beta-helix repeatRepeatRepeat
IPR011050 Pectin lyase fold/virulence factorFamilyHomologous superfamily
IPR012334 Pectin lyase foldFamilyHomologous superfamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR019316 G8 domainDomainDomain
IPR028839 FibrocystinFamilyFamily
IPR037524 PA14/GLEYA domainDomainDomain
IPR039448 Right handed beta helix domainDomainDomain

Diseases

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Disease IDSourceNameDescription
263200 OMIMPolycystic kidney disease 4, with or without polycystic liver disease (PKD4)A 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. The disease is caused by variants affecting the gene represented in this entry.