1. Gene
  2. PKHD1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin Gene

PKHD1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin Gene

Homo sapiens

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

Gene ID: 5314 | Gene type: protein coding

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

PKHD1 Protein Structure

TIG

TIG: IPT/TIG domain (261 - 313)

TIG

TIG: IPT/TIG domain (945 - 1000)

TIG

TIG: IPT/TIG domain (1019 - 1102)

TIG

TIG: IPT/TIG domain (1200 - 1260)

TIG

TIG: IPT/TIG domain (1389 - 1470)

TIG

TIG: IPT/TIG domain (1486 - 1556)

TIG

TIG: IPT/TIG domain (1577 - 1642)

G8

G8: G8 domain (1932 - 2052)

Beta_helix

Beta_helix: Right handed beta helix region (2243 - 2417)

G8

G8: G8 domain (2749 - 2872)

Beta_helix

Beta_helix: Right handed beta helix region (3012 - 3177)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4074 a.a.
Protein Preferred Names Protein Names

fibrocystin

PKHD1, fibrocystin/polyductin

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

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