Identity
HGNC
LOCATION
6p12.3
LOCUSID
ALIAS
ARPKD,FCYT,FPC,PKD4,TIGM1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5314
MIM: 606702
HGNC: 9016
Ensembl: ENSG00000170927
Variants:
dbSNP: 5314
ClinVar: 5314
TCGA: ENSG00000170927
COSMIC: PKHD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170927 | ENST00000340994 | P08F94 |
| ENSG00000170927 | ENST00000371117 | P08F94 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34536170 | 2022 | Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. | 4 |
| 35715958 | 2022 | Rare variants in PKHD1 associated with Caroli syndrome: Two case reports. | 5 |
| 34536170 | 2022 | Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. | 4 |
| 35715958 | 2022 | Rare variants in PKHD1 associated with Caroli syndrome: Two case reports. | 5 |
| 32475690 | 2021 | Cilia and polycystic kidney disease. | 25 |
| 33940108 | 2021 | Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. | 27 |
| 32475690 | 2021 | Cilia and polycystic kidney disease. | 25 |
| 33940108 | 2021 | Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. | 27 |
| 32001768 | 2020 | Analysis of the polycystin complex (PCC) in human urinary exosome-like vesicles (ELVs). | 11 |
| 32571524 | 2020 | Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient. | 0 |
| 33112055 | 2020 | The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation. | 6 |
| 33123899 | 2020 | Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review. | 3 |
| 32001768 | 2020 | Analysis of the polycystin complex (PCC) in human urinary exosome-like vesicles (ELVs). | 11 |
| 32571524 | 2020 | Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient. | 0 |
| 33112055 | 2020 | The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation. | 6 |
Citation
Dessen P
PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)
Atlas Genet Cytogenet Oncol Haematol. 2011-04-01
Online version: http://atlasgeneticsoncology.org/gene/52174/pkhd1-(pkhd1-ciliary-ipt-domain-containing-fibrocystin-polyductin)
