Homo sapiens Gene: PKHD1
Summary
InnateDB Gene IDBG-90456.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PKHD1
Gene Name polycystic kidney and hepatic disease 1 (autosomal recessive)
Synonyms ARPKD; FCYT; TIGM1;
Species Homo sapiens
Ensembl Gene ENSG00000170927
Encoded Proteins
polycystic kidney and hepatic disease 1 (autosomal recessive)
polycystic kidney and hepatic disease 1 (autosomal recessive)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:51615300-52087625
Strand Reverse strand
Band p12.2
Transcripts
ENST00000371117 ENSP00000360158
ENST00000340994 ENSP00000341097
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt P08F94
TrEMBL
UniProt Splice Variant
Entrez Gene 5314
UniGene Hs.662050
RefSeq NM_138694 NM_170724
HUGO HGNC:9016
OMIM 606702
CCDS CCDS4935 CCDS4936
HPRD
IMGT
EMBL AF480064 AL121946 AL157774 AL355997 AL391221 AL590391 AY074797 AY092083 AY129465 CH471081
GenPept AAL74290 AAM18186 AAM44232 AAM93492 CAH72781 CAH72782 CAH73867 CAH73868 CAI16676 CAI16677 CAI20233 CAI20324 CAI20325 EAX04359
RNA Seq Atlas 5314