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polycystic kidney & hepatic disease 1 (fibrocystin, polyductin, tigmin, PKHD1, FCYT, TIGM1)
Function:
1) receptor protein
2) role in collecting-duct & biliary differentiation
Structure:
- contains 12 IPT/TIG domains. contains 9 PbH1 repeats
Compartment: membrane
Alternative splicing:
- named isoforms=2
- additional isoforms seem to exist
Expression:
- predominantly expressed in fetal & adult kidney
- expressed in adult pancreas at much lower levels
- expressed in fetal & adult liver
- indistinct in fetal brain
Pathology:
- defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease
General
glycoprotein
membrane protein
Properties
SIZE: MW = 447 kD
entity length = 4074 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-23}
IPT/TIG 1; atypical {24-111}
MOTIF: N-glycosylation site {N54}
IPT/TIG 2 {137-232}
MOTIF: N-glycosylation site {N226}
IPT/TIG 3 {259-335}
MOTIF: N-glycosylation site {N276}
N-glycosylation site {N357}
N-glycosylation site {N387}
N-glycosylation site {N507}
N-glycosylation site {N520}
N-glycosylation site {N529}
N-glycosylation site {N641}
N-glycosylation site {N711}
N-glycosylation site {N830}
N-glycosylation site {N869}
IPT/TIG 4 {931-1015}
MOTIF: N-glycosylation site {N967}
N-glycosylation site {N977}
IPT/TIG 5 {1019-1103}
MOTIF: N-glycosylation site {N1065}
N-glycosylation site {N1084}
IPT/TIG 6; atypical {1108-1192}
MOTIF: N-glycosylation site {N1116}
N-glycosylation site {N1135}
IPT/TIG 7 {1196-1289}
MOTIF: N-glycosylation site {N1234}
N-glycosylation site {N1241}
IPT/TIG 8; atypical {1301-1382}
MOTIF: N-glycosylation site {N1312}
N-glycosylation site {N1323}
N-glycosylation site {N1346}
N-glycosylation site {N1377}
IPT/TIG 9 {1389-1481}
MOTIF: N-glycosylation site {N1460}
N-glycosylation site {N1475}
IPT/TIG 10 {1486-1570}
MOTIF: N-glycosylation site {N1494}
N-glycosylation site {N1527}
N-glycosylation site {N1532}
N-glycosylation site {N1564}
IPT/TIG 11 {1573-1659}
MOTIF: N-glycosylation site {N1582}
N-glycosylation site {N1602}
N-glycosylation site {N1631}
IPT/TIG 12; atypical {1658-1742}
MOTIF: N-glycosylation site {N1698}
N-glycosylation site {N1764}
N-glycosylation site {N1779}
N-glycosylation site {N1879}
N-glycosylation site {N1883}
N-glycosylation site {N1919}
N-glycosylation site {N1945}
N-glycosylation site {N1959}
N-glycosylation site {N2034}
N-glycosylation site {N2115}
N-glycosylation site {N2144}
PbH1 {2226-2248}
PbH1 {2249-2271}
PbH1 {2292-2325}
PbH1 {2326-2347}
N-glycosylation site {N2350}
N-glycosylation site {N2385}
PbH1 {2409-2431}
N-glycosylation site {N2435}
PbH1 {2469-2502}
MOTIF: N-glycosylation site {N2471}
N-glycosylation site {N2509}
N-glycosylation site {N2535}
N-glycosylation site {N2553}
N-glycosylation site {N2595}
N-glycosylation site {N2633}
N-glycosylation site {N2753}
N-glycosylation site {N2768}
N-glycosylation site {N3008}
PbH1 {3010-3032}
PbH1 {3033-3055}
PbH1 {3086-3108}
N-glycosylation site {N3140}
N-glycosylation site {N3169}
N-glycosylation site {N3225}
N-glycosylation site {N3488}
N-glycosylation site {N3528}
N-glycosylation site {N3707}
N-glycosylation site {N3726}
N-glycosylation site {N3838}
transmembrane domain {3859-3879}
Database Correlations
OMIM correlations
MORBIDMAP 606702
UniProt P08F94
PFAM correlations
References
- UniProt :accession Q8TCZ9
- Mutation Database Autosomal Recessive Polycystic Kidney
Disease (ARPKD/PKHD1)
http://www.humgen.rwth-aachen.de/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PKHD1