PKHD1

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

Description

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Tissue specificity

Group enriched (epididymis, kidney, pancreas)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

6 (51615299 - 52087613)

Ensembl ID

ENSG00000170927  (ver. 103.38)

Orthologs

Mouse Pkhd1: ENSMUSG00000043760

UniProt

P08F94

neXtProt

NX_P08F94

Human splice variants
Mouse splice variants

Protein structure