PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)

2011-04-01  

Identity

HGNC
PKHD1
LOCATION
6p12.3
LOCUSID
5314
ALIAS
ARPKD,FCYT,FPC,PKD4,TIGM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5314
MIM: 606702
HGNC: 9016
Ensembl: ENSG00000170927

Variants:

dbSNP: 5314
ClinVar: 5314
TCGA: ENSG00000170927
COSMIC: PKHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170927ENST00000340994P08F94
ENSG00000170927ENST00000371117P08F94

Expression (GTEx)

0
5
10
15
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
119195602002The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.186
118981282002PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.124
191583522009Characterization of PKD protein-positive exosome-like vesicles.124
172830552007Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.81
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
149830062004PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells.54
174704602007Polyductin undergoes notch-like processing and regulated release from primary cilia.41
154584272004Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.39
125061402003Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).36
156472522005Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis.23

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)