C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: polycystic kidney and hepatic disease 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000043760 Pkhd1 10090 - 1:20057779-20618064 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000088448 Pkhd1-001 20057779-20618064 protein_coding
  ENSMUST00000128051 Pkhd1-004 20606297-20618040 processed_transcript
  ENSMUST00000132647 Pkhd1-002 20374722-20409448 processed_transcript
  ENSMUST00000147480 Pkhd1-003 20592953-20618064 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonKidneyLiverLungMuscleOvaryPlacentaENSMUST00000088448ENSMUST00000132647
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Kidney Liver Lung Muscle Ovary Placenta
ENSMUST00000088448 0.119±0.16 0.012±0.00 1.255±0.10 0.004±0.00 0.010±0.01 0.188±0.04 7.043±3.64 0.265±0.20 0.033±0.01 0.004±0.00 0.079±0.02 0.016±0.00
ENSMUST00000132647 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.879±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005MX CIL_0005MX_0002 CGP 1:19208914-20618064
CIL_000824 CIL_000824_0002 VISTA 1:19806392-20407514
CIL_0007MB CIL_0007MB_0002 UCNEbase 1:19881255-20106905
CIL_0005N4 CIL_0005N4_0002 CGP 1:20057779-20734496

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 IDA kidney development
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005813 IEA centrosome
GO:0006874 IEA cellular calcium ion homeostasis
GO:0008284 IEA positive regulation of cell proliferation
GO:0010824 IEA regulation of centrosome duplication
GO:0016324 IEA apical plasma membrane
GO:0032006 IEA regulation of TOR signaling
GO:0032088 IEA negative regulation of NF-kappaB transcription factor activity
GO:0036064 IEA ciliary basal body
GO:0042384 IMP cilium assembly
GO:0043066 IEA negative regulation of apoptotic process
GO:0048471 IEA perinuclear region of cytoplasm
GO:0051898 IEA negative regulation of protein kinase B signaling
GO:0070062 IEA extracellular vesicular exosome
GO:0070372 IEA regulation of ERK1 and ERK2 cascade
GO:0072372 IEA primary cilium
GO:0072686 IEA mitotic spindle

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000170927 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) protein_coding Homo_sapiens

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