Faculty Collaboration Database

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. Am J Hum Genet 2002 May;70(5):1305-17

Date

03/19/2002

Pubmed ID

11898128

Pubmed Central ID

PMC447605

DOI

10.1086/340448

Scopus ID

2-s2.0-18344366124 (requires institutional sign-in at Scopus site)   416 Citations

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and congenital hepatic fibrosis. We have identified PKHD1, the gene mutated in ARPKD. PKHD1 extends over > or =469 kb, is primarily expressed in human fetal and adult kidney, and includes a minimum of 86 exons that are variably assembled into a number of alternatively spliced transcripts. The longest continuous open reading frame encodes a 4,074-amino-acid protein, polyductin, that is predicted to have a single transmembrane (TM)-spanning domain near its carboxyl terminus, immunoglobulin-like plexin-transcription-factor domains, and parallel beta-helix 1 repeats in its amino terminus. Several transcripts encode truncated products that lack the TM and that may be secreted if translated. The PKHD1-gene products are members of a novel class of proteins that share structural features with hepatocyte growth-factor receptor and plexins and that belong to a superfamily of proteins involved in regulation of cell proliferation and of cellular adhesion and repulsion.

Author List

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG

Author

Ellis D. Avner MD Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Age of Onset
Alternative Splicing
Amino Acid Motifs
Base Sequence
Cell Adhesion Molecules
Chromosomes, Human, Pair 6
DNA Mutational Analysis
Exons
Female
Fetus
Gene Expression Profiling
Gene Expression Regulation, Developmental
Humans
Immunoglobulins
Kidney
Male
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Polycystic Kidney, Autosomal Recessive
Protein Structure, Secondary
Protein Structure, Tertiary
Protein Transport
RNA, Messenger
Receptors, Cell Surface