PKHD1 |
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Identifiers |
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Aliases | PKHD1, ARPKD, FCYT, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive), fibrocystin/polyductin, FPC, PKD4, PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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External IDs | OMIM: 606702; MGI: 2155808; HomoloGene: 16336; GeneCards: PKHD1; OMA:PKHD1 - orthologs |
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Gene location (Human) |
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![Chromosome 6 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/0/03/Ideogram_human_chromosome_6.svg/300px-Ideogram_human_chromosome_6.svg.png) | Chr. | Chromosome 6 (human)[1] |
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| Band | 6p12.3-p12.2 | Start | 51,615,299 bp[1] |
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End | 52,087,613 bp[1] |
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Gene location (Mouse) |
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![Chromosome 1 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Ideogram_house_mouse_chromosome_1.svg/260px-Ideogram_house_mouse_chromosome_1.svg.png) | Chr. | Chromosome 1 (mouse)[2] |
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| Band | 1|1 A4 | Start | 20,128,003 bp[2] |
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End | 20,688,288 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - renal medulla
- pancreatic epithelial cell
- body of pancreas
- corpus epididymis
- human kidney
- testicle
- tibialis anterior muscle
- caput epididymis
- islet of Langerhans
- right lobe of liver
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| Top expressed in | - transitional epithelium of urinary bladder
- human kidney
- renal calyx
- efferent ductule
- medullary collecting duct
- inner renal medulla
- right kidney
- left lobe of liver
- morula
- pancreas
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - protein binding
- signaling receptor activity
| Cellular component | - cytoplasm
- integral component of membrane
- ciliary basal body
- centrosome
- cell projection
- membrane
- plasma membrane
- spindle
- chromosome
- apical plasma membrane
- anchored component of external side of plasma membrane
- perinuclear region of cytoplasm
- mitotic spindle
- chromosome, centromeric region
- extracellular exosome
- cytoskeleton
- cilium
| Biological process | - negative regulation of protein kinase B signaling
- regulation of centrosome duplication
- regulation of TOR signaling
- kidney development
- cellular calcium ion homeostasis
- negative regulation of apoptotic process
- positive regulation of cell population proliferation
- regulation of ERK1 and ERK2 cascade
- negative regulation of NF-kappaB transcription factor activity
- homeostatic process
- cilium assembly
- cell-cell adhesion
| Sources:Amigo / QuickGO |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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