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Pkhd1 polycystic kidney and hepatic disease 1 [ Mus musculus (house mouse) ]

Gene ID: 241035, updated on 8-Feb-2024

Summary

Official Symbol
Pkhd1provided by MGI
Official Full Name
polycystic kidney and hepatic disease 1provided by MGI
Primary source
MGI:MGI:2155808
See related
Ensembl:ENSMUSG00000043760 AllianceGenome:MGI:2155808
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FPC; Tigm1
Summary
Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and positive regulation of epithelial cell proliferation. Acts upstream of or within several processes, including branching morphogenesis of an epithelial tube; cell-cell junction organization; and cilium assembly. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; metanephros; neural tube; and ureteric bud. Used to study autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney adult (RPKM 6.2), genital fat pad adult (RPKM 1.3) and 3 other tissues See more
Orthologs
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Genomic context

See Pkhd1 in Genome Data Viewer
Location:
1 A4; 1 6.27 cM
Exon count:
70
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (20128003..20688306, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (20057779..20618082, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00381 Neighboring gene STARR-seq mESC enhancer starr_00382 Neighboring gene isoleucine-tRNA synthetase pseudogene Neighboring gene predicted gene, 32651 Neighboring gene STARR-seq mESC enhancer starr_00383 Neighboring gene STARR-seq mESC enhancer starr_00384 Neighboring gene STARR-seq mESC enhancer starr_00386 Neighboring gene RIKEN cDNA 4930486I03 gene Neighboring gene 60S ribosomal protein L17 pseudogene Neighboring gene predicted gene, 24162 Neighboring gene STARR-seq mESC enhancer starr_00387 Neighboring gene long intergenic non-protein coding RNA of muscle differentiation 1 Neighboring gene microRNA 133b Neighboring gene microRNA 206

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_positive_effect branching morphogenesis of an epithelial tube IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_positive_effect cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within kidney development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of NF-kappaB transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of epithelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of TOR signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of centrosome duplication ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cholangiocyte proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of establishment of planar polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in 9+0 non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitotic spindle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
fibrocystin
Names
TIG multiple domains 1
polycystic kidney and hepatic disease 1 protein
polyductin
tigmin

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_153179.3NP_694819.2  fibrocystin precursor

    Status: VALIDATED

    Source sequence(s)
    AC161178, AC166488, AC166770, AY130764, AY438374, BB661186
    Consensus CDS
    CCDS14841.1
    UniProtKB/Swiss-Prot
    E9PZ36
    UniProtKB/TrEMBL
    Q8CIS7
    Related
    ENSMUSP00000085794.6, ENSMUST00000088448.12
    Conserved Domains (4) summary
    cd00603
    Location:257339
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    pfam01833
    Location:11061188
    TIG; IPT/TIG domain
    pfam10162
    Location:19292047
    G8; G8 domain
    pfam13229
    Location:29963169
    Beta_helix; Right handed beta helix region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    20128003..20688306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238384.3XP_011236686.1  fibrocystin isoform X1

    UniProtKB/TrEMBL
    Q8CIS7
    Conserved Domains (4) summary
    cd00603
    Location:257339
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    pfam01833
    Location:11061188
    TIG; IPT/TIG domain
    pfam10162
    Location:19292047
    G8; G8 domain
    pfam13229
    Location:29963169
    Beta_helix; Right handed beta helix region
  2. XM_006495521.2XP_006495584.1  fibrocystin isoform X2

    Conserved Domains (3) summary
    cd00603
    Location:257339
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    pfam01833
    Location:11061188
    TIG; IPT/TIG domain
    pfam10162
    Location:19292047
    G8; G8 domain
  3. XM_011238385.1XP_011236687.1  fibrocystin isoform X3

    Conserved Domains (3) summary
    cd00603
    Location:257339
    IPT_PCSR; IPT domain of Plexins and Cell Surface Receptors (PCSR) and related proteins . This subgroup contains IPT domains of plexins, receptors, like the plasminogen-related growth factor receptors, the hepatocyte growth factor-scatter factors, and the ...
    pfam01833
    Location:11061188
    TIG; IPT/TIG domain
    pfam10162
    Location:19292047
    G8; G8 domain