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 (autosomal recessive)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000170927 PKHD1 9606 - 6:51615300-52087625 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000340994 PKHD1-002 51720849-52087610 protein_coding
  ENST00000371117 PKHD1-001 51615300-52087625 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000340994ENST00000371117
Transcript ID Adipose Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000340994 N/A 7.969±0.00 N/A 0.004±0.00 0.018±0.01 N/A 0.606±0.00 0.030±0.00 N/A 0.127±0.00 0.018±0.01 N/A N/A
ENST00000371117 0.005±0.00 9.442±0.00 0.004±0.00 0.009±0.00 N/A 0.011±0.00 2.593±0.00 0.169±0.00 0.035±0.00 N/A 0.011±0.00 0.023±0.01 0.278±0.05

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005MX CIL_0005MX_0001 CGP 6:50818723-52087625
CIL_000824 CIL_000824_0001 VISTA 6:51351096-51952217
CIL_0007MB CIL_0007MB_0001 UCNEbase 6:51450598-51651608
CIL_0005N4 CIL_0005N4_0001 CGP 6:51615300-52190638

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 ISS kidney development
GO:0004872 NAS receptor activity
GO:0005515 IPI:IEA protein binding
GO:0005737 IDA cytoplasm
GO:0005813 IDA centrosome
GO:0006874 IMP cellular calcium ion homeostasis
GO:0008284 IMP positive regulation of cell proliferation
GO:0010824 IMP regulation of centrosome duplication
GO:0016021 IEA integral component of membrane
GO:0016324 IDA apical plasma membrane
GO:0016337 ISS single organismal cell-cell adhesion
GO:0031362 TAS anchored component of external side of plasma membrane
GO:0032006 IMP regulation of TOR signaling
GO:0032088 IMP negative regulation of NF-kappaB transcription factor activity
GO:0036064 IDA ciliary basal body
GO:0042384 ISS cilium assembly
GO:0042592 NAS homeostatic process
GO:0043066 IMP negative regulation of apoptotic process
GO:0048471 IDA perinuclear region of cytoplasm
GO:0051271 ISS negative regulation of cellular component movement
GO:0051898 IMP negative regulation of protein kinase B signaling
GO:0070062 IDA extracellular vesicular exosome
GO:0070372 IMP regulation of ERK1 and ERK2 cascade
GO:0072372 IDA primary cilium
GO:0072686 IDA mitotic spindle

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSMUSG00000043760 Pkhd1 polycystic kidney and hepatic disease 1 protein_coding Mus_musculus

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