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- Table of Contents
Facts about Fibrocystin.
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Human | |
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Gene Name: | PKHD1 |
Uniprot: | P08F94 |
Entrez: | 5314 |
Belongs to: |
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No superfamily |
polycystic kidney and hepatic disease 1 (autosomal recessive)
Mass (kDA):
446.702 kDA
Human | |
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Location: | 6p12.3-p12.2 |
Sequence: | 6; NC_000006.12 (51614685..52087625, complement) |
Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain.
Cell membrane; Single-pass type I membrane protein. Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere.
PMID: 11919560 by Ward C.J., et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
PMID: 11898128 by Onuchic L.F., et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin- transcription-factor domains and parallel beta-helix 1 repeats.