PKHD1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin Gene

Also Known as FPC; FCYT; PKD4; ARPKD; TIGM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5314

About PKHD1

Cytogenetic location: 6p12.3-p12.2 Genomic coordinates (GRCh38): 6:51,615,299-52,087,615 (from NCBI)

This gene has 2 transcripts (splice variants), 119 orthologues, 36 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 4.0), pancreas (RPKM 0.7) and 2 other tissues.

Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

PKHD1 Products (2)

mRNA	Protein	Name
NM_138694.4	NP_619639.3	fibrocystin isoform 1 precursor
NM_170724.3	NP_733842.2	fibrocystin isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16243292	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	17669261	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	21300060	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	19943112	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	21300060	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	19943112	GOA
involved in regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	17669261	GOA
involved in regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	19524688	GOA
involved in regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	20554582	GOA
involved in regulation of cholangiocyte proliferation	IMP IMP: Inferred from mutant phenotype	30898581	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	16243292	GOA
located in centrosome	IDA IDA: Inferred from direct assay	20554582	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	14978161	GOA
located in cilium	IDA IDA: Inferred from direct assay	15458427	GOA
located in cilium	IMP IMP: Inferred from mutant phenotype	20048263	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20709014	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	20554582	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	20709014	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKHD1 Protein Structure

TIG

Beta_helix

0
700
1400
2100
2800
3500
4074 a.a.

Protein Preferred Names	Protein Names
fibrocystin	PKHD1, fibrocystin/polyductin

PKHD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PKHD1	P08F94	CAMLG	Homo sapiens	P49069	Y2H	16243292
Intra	PKHD1	P08F94	CAMLG	Homo sapiens	P49069	Anti Tag CoIP	16243292

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Polycystic Kidney Disease 4
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Caroli Disease	Caroli Disease Isolated Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts Cystic Dilatation Of The Intrahepatic Biliary Tree Caroli Syndrome Carolis Disease
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Pregnancy Loss, Recurrent 3	Pregnancy Loss, Recurrent, Susceptibility To, 3 RPRGL3 Pregnancy Loss, Recurrent, 3 Pregnancy Loss, Recurrent, Susceptibility To, Type 3
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Congenital Hepatic Fibrosis	Chf Congenital Fibrose Liver Hepatic Fibrosis, Congenital
Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency	Classic Homocystinuria Cystathionine Beta-Synthase Deficiency Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria With Or Without Response To Pyridoxine Cystathionine Beta-Synthase Deficiency Cbs Deficiency Homocystinuria, B6-Responsive And Nonresponsive Types Hyperhomocysteinemia, Thrombotic, Cbs-Related Thrombosis, Hyperhomocysteinemic Homocystinuria Due To Cbs Deficiency Classic Homocystinuria Homocystinuria Due To Cystathionine Beta-Synthase CBSD Hyperhomocysteinemia Thrombotic Cbs-Related Cystathionine Beta-Synthase Deficiency Disease
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 1 PKD1 Adpkd Polycystic Kidney Disease, Adult, Type I Apkd1 Potter Type Iii Polycystic Kidney Disease Polycystic Kidney Disease, Adult Potter Type Iii Polycystic Kidney Disease, Formerly Polycystic Kidney Disease, Type 1 Adpkd1 Adult Polycystic Kidney Disease Type 1 Autosomal Dominant Polycystic Kidney Disease 1 Pkd-1 Polycystic Kidney Disease Adult Polycystic Kidney Disease Type I Polycystic Kidneys Polycystic Kidney Disease, Adult Type I Polycystic Kidney Type 1 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 1 Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Type 1 Autosomal Dominant Disease Polycystic Kidney Diseases
Portal Hypertension	Hypertension, Portal Hypertension Portal Pht - [Portal Hypertension] Portal Htn
Ascending Cholangitis
Potter'S Syndrome	Potter Sequence Potter Syndrome Oligohydramnios Sequence Congenital Absence Of Kidneys Syndrome
Renal Cysts And Diabetes Syndrome	RCAD Mody5 Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes Cakut With Diabetes Maturity-Onset Diabetes Of The Young Type 5 Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 Adtkd3 Atypical Familial Juvenile Hyperuricemic Nephropathy Atypical Fjhn Familial Hypoplastic Glomerulocystic Kidney Maturity-Onset Diabetes Of The Young, Type 5 Hyperuricemic Nephropathy, Familial Juvenile, Atypical Fjhn, Atypical Glomerulocystic Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hypoplastic Type Glomerulocystic Kidney Disease Glomerulocystic Kidney Disease Hypoplastic Type Renal-Diabetes Mody5 Syndrome
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 2 PKD2 Polycystic Kidney Disease, Adult, Type Ii Apkd2 Polycystic Kidney Disease, Type 2 Adpkd2 Adult Polycystic Kidney Disease Type 2 Autosomal Dominant Polycystic Kidney Disease 2 Pkd-2 Polycystic Kidney Disease Adult Type Ii Polycystic Kidney Type 2 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 2
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Esophageal Varix	Esophageal Varices Bleeding Esophageal Varices Bleeding Oesophageal Varices Esophageal Varices In Disease Classified Elsewhere, With Bleeding Esophageal Varices With Bleeding Esophageal Varices With Bleeding In Disease Ec Esophageal Varices Without Bleeding Esophageal Varices Without Mention Of Bleeding
Acute Cholangitis
Hepatic Vascular Disease	Vascular Disorder Of Liver
Bile Duct Cysts	Choledochal Cyst Choledochal Cysts Choledochocele Biliary Cyst Congenital Choledochal Cyst Bile Duct Cyst Congenital Cystic Dilatation Of The Biliary Tract Congenital Bile Duct Dilatation
Renal Dysplasia, Cystic	CYSRD Renal Dysplasia, Cystic, Susceptibility To Diffuse Cystic Renal Dysplasia Renal Dysplasia Diffuse Cystic Cystic Renal Dysplasia Susceptibility To Cystic Renal Dysplasia Dysplasia, Renal, Cystic, Susceptibility To Multicystic Dysplastic Kidney
Chronic Cholangitis
Hypersplenism	Hypersplenia Big Spleen Syndrome Hyperfunction Of Spleen Increased Splenic Activity Spleen Metaplasia Splenic Metaplasia
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Short-Rib Thoracic Dysplasia 12	Beemer-Langer Syndrome Type Iv Short Rib Polydactyly Syndrome Short Rib-Polydactyly Syndrome Type 4 Short Rib-Polydactyly Syndrome, Beemer Type SRTD12 Short Rib-Polydactyly Syndrome, Type Iv Srps4 Srps Iv Short Rib Syndrome, Beemer Type Beemer Langer Syndrome Srps Type 4 Short Rib Polydactyly Syndrome Beemer-Langer Type Short Rib-Polydactyly Syndrome Beemer Type Short Rib-Polydactyly Syndrome Type Iv Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10596	PKHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10597	PKHD1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PKHD1	VGNC	VGNC:76010
Mus musculus	PKHD1	MGD	MGI:2155808
Rattus norvegicus	PKHD1	RGD	RGD:1308476
Bos taurus	PKHD1	VGNC	VGNC:32939
Felis catus	PKHD1	VGNC	VGNC:68874
Canis familiaris	PKHD1	VGNC	VGNC:44605