InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKHD1

Summary

InnateDB Protein

IDBP-90460.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKHD1

Protein Name

polycystic kidney and hepatic disease 1 (autosomal recessive)

Synonyms

ARPKD; FCYT; TIGM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000341097

InnateDB Gene

IDBG-90456 (PKHD1)

Protein Structure

UniProt Annotation

Function

May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. {ECO:0000269PubMed:20554582}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Disease Associations

Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]: A severe form of polycystic kidney disease affecting the kidneys and 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. {ECO:0000269PubMed:11898128, ECO:0000269PubMed:11919560, ECO:0000269PubMed:12506140, ECO:0000269PubMed:12846734, ECO:0000269PubMed:12874454, ECO:0000269PubMed:15108281, ECO:0000269PubMed:16677362, ECO:0000269PubMed:19914852}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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. {ECO:0000269PubMed:14978161, ECO:0000269PubMed:15458427}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding

Biological Process

GO:0001822	kidney development
GO:0006874	cellular calcium ion homeostasis
GO:0008284	positive regulation of cell proliferation
GO:0010824	regulation of centrosome duplication
GO:0016337	single organismal cell-cell adhesion
GO:0032006	regulation of TOR signaling
GO:0032088	negative regulation of NF-kappaB transcription factor activity
GO:0042384	cilium assembly
GO:0042592	homeostatic process
GO:0043066	negative regulation of apoptotic process
GO:0051271	negative regulation of cellular component movement
GO:0051898	negative regulation of protein kinase B signaling
GO:0070372	regulation of ERK1 and ERK2 cascade

Cellular Component

GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0031362	anchored component of external side of plasma membrane
GO:0036064	ciliary basal body
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome
GO:0072372	primary cilium
GO:0072686	mitotic spindle

Protein Structure and Domains

PDB ID

InterPro

IPR002909 IPT domain
IPR006626 Parallel beta-helix repeat
IPR011050 Pectin lyase fold/virulence factor
IPR014756 Immunoglobulin E-set
IPR019316 G8 domain

PFAM

PF01833
PF10162

PRINTS

PIRSF

SMART

SM00429
SM00710

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P08F94