| Type | Description |
|---|---|
| Definition | polycystic kidney and hepatic disease 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-11 11:12:00 | when aged to ~1.5 yr, the Pkhd1(C642*) heterozygotes developed prominent cystic liver changes; tissue analyses revealed biliary cysts and increased number of bile ducts without signs of congenital hepatic fibrosis-like portal field inflammation and fibrosis that was seen in Pkhd1(C642*) homozygotes. | 30600684 |
| 2019-09-21 10:04:00 | This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1. | 30414501 |
| 2018-06-16 11:16:00 | Pkhd1(Flox67HA) is a valid mouse model of autosomal recessive polycystic kidney disease to track Pkhd1-derived products containing the C-terminus. Significantly, exon 67 containing the nuclear localization signal and the polycystin-2 binding domain is not essential for Fibrocystin function in this model. | 28729032 |
| 2018-01-06 10:49:00 | this study shows that loss of functional Pkhd1 on the NOD background produces early bile duct abnormalities, initiating a break in tolerance that leads to autoimmune cholangitis in NOD.Abd3 congenic mice | 29158418 |
| 2016-07-16 11:40:00 | fibrocystin-defective cholangiocytes are characterized by a beta-catenin-dependent secretion of a range of chemokines which stimulate bone marrow-derived macrophage recruitment | 26645994 |
| Type | IDs |
|---|---|
| Synonymous | AI118496, AI182499, FPC, Tigm1 |
| Gene |
UniProtKB-ID:
E9PZ36_MOUSE,
Q6T3A5_MOUSE,
Q8CIS7_MOUSE
UniprotKB:
E9PZ36,
Q6T3A5,
Q8CIS7
UniParc:
UPI0000D8B930,
UPI000002A14B,
UPI0000241F5B
EMBL:
AY130764,
AC161178,
AC166488,
AC166770,
AY438374,
AC101789,
AC101729
Ensembl:
ENSMUSG00000043760
KO:
mmu:241035
|
| Nucleutide sequences |
EMBL-CDS:
AAS00499.1,
AAN05018.1
Ensembl_TRS:
ENSMUST00000088448
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000085794
RefSeq:
NP_694819.2,
XP_011236686.1,
XP_006495584.1,
XP_011236687.1
|
| Others |
UniRef100:
UniRef100_Q8CIS7,
UniRef100_Q6T3A5,
UniRef100_E9PZ36
UniRef90:
UniRef90_E9PZ36,
UniRef90_Q6T3A5
UniRef50:
UniRef50_P08F94
UniGene:
Mm.249253
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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