PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)

2011-04-01 Affiliation

Identity

HGNC

PKHD1

LOCATION

6p12.3

LOCUSID

5314

ALIAS

ARPKD,FCYT,FPC,PKD4,TIGM1

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/cancer-prone-explorer/meetings/tumors-explorer/