PKHD1 Gene (Protein Coding)

PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin

GC06M051588
GIFtS:
39
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... See more...

Aliases for PKHD1 Gene

Aliases for PKHD1 Gene

  • PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin 2 3 5
  • Fibrocystin 2 3 4
  • Polyductin 2 3 4
  • Tigmin 2 3 4
  • FCYT 2 3 4
  • Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive) 2 3
  • Polycystic Kidney And Hepatic Disease 1 Protein 3 4
  • Fibrocystin/Polyductin Complex 2 3
  • PKHD1, Fibrocystin/Polyductin 2 3
  • TIG Multiple Domains 1 2 3
  • ARPKD 2 3
  • TIGM1 3 4
  • FPC 2 3
  • PKHD1 5
  • PKD4 3

External Ids for PKHD1 Gene

Previous HGNC Symbols for PKHD1 Gene

  • TIGM1

Previous GeneCards Identifiers for PKHD1 Gene

  • GC06M051482
  • GC06M051526
  • GC06M051480
  • GC06M051314

Summaries for PKHD1 Gene

Entrez Gene Summary for PKHD1 Gene

  • 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]

GeneCards Summary for PKHD1 Gene

PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin) is a Protein Coding gene. Diseases associated with PKHD1 include Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease and Polycystic Liver Disease. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot Summary for PKHD1 Gene

  • May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.

Additional gene information for PKHD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKHD1 Gene

Genomics for PKHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PKHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J052087 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 -0.1 -139 1.3 GATAD2A CTCF SP1 JUND RAD21 DRAP1 ZNF513 HNF4A RXRA XRCC5 PKHD1 piR-61580-550 IL17A
GH06J052150 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -67.8 -67752 6 SP1 CREB1 ZNF512 JUND PKNOX1 IKZF2 RCOR1 EP300 SCRT2 RELA LINCMD1 IL17F SLC25A20P1 IL17A PKHD1 MCM3 PAQR8
GH06J052063 Enhancer 0.9 Ensembl ENCODE 11.5 +23.5 23453 2.1 CEBPG CTCF GABPA ZNF143 RAD21 TRIM22 CEBPA CEBPB ELK1 CBX3 PKHD1 MIR133B LINCMD1 IL17F SLC25A20P1 RF01061-144 HSALNG0050595
GH06J052263 Enhancer 0.9 Ensembl ENCODE 10.3 -176.4 -176417 0.7 CTCF ZNF143 RXRB REST RAD21 TRIM22 ZNF561 POLR2A BCLAF1 SMC3 LINCMD1 MIR133B PKHD1 IL17A MIR206 lnc-MCM3-1 IL17F piR-43046 MCM3
GH06J052261 Enhancer 0.9 Ensembl ENCODE 10.5 -174.0 -173976 1.2 PRDM10 ZNF629 PRDM1 SMAD5 POLR2A ZNF600 ZNF639 ZNF10 TSHZ1 ZSCAN5C EFHC1 MCM3 PKHD1 IL17A LINCMD1 MIR133B lnc-MCM3-1 IL17F piR-43046
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKHD1

Top Transcription factor binding sites by QIAGEN in the PKHD1 gene promoter:
  • aMEF-2
  • AREB6
  • ATF-2
  • CREB
  • deltaCREB
  • MEF-2A
  • Pax-3

Genomic Locations for PKHD1 Gene

Genomic Locations for PKHD1 Gene
chr6:51,614,685-52,087,625
(GRCh38/hg38)
Size:
472,941 bases
Orientation:
Minus strand
chr6:51,480,098-51,952,423
(GRCh37/hg19)
Size:
472,326 bases
Orientation:
Minus strand

Genomic View for PKHD1 Gene

Genes around PKHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKHD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PKHD1 Gene

Proteins for PKHD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PKHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08F94-PKHD1_HUMAN
    Recommended name:
    Fibrocystin
    Protein Accession:
    P08F94
    Secondary Accessions:
    • Q5VUA2
    • Q5VUA3
    • Q5VWV1
    • Q86Z26
    • Q8TCZ9

    Protein attributes for PKHD1 Gene

    Size:
    4074 amino acids
    Molecular mass:
    446702 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PKHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKHD1 Gene

Protein Expression for PKHD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PKHD1 Gene

  • Glycosylation at Asn54, Asn226, Asn276, Asn357, Asn387, Asn507, Asn520, Asn529, Asn641, Asn711, Asn830, Asn869, Asn967, Asn977, Asn1065, Asn1084, Asn1116, Asn1135, Asn1234, Asn1241, Asn1312, Asn1323, Asn1346, Asn1377, Asn1460, Asn1475, Asn1494, Asn1527, Asn1532, Asn1564, Asn1582, Asn1602, Asn1631, Asn1698, Asn1764, Asn1779, Asn1879, Asn1883, Asn1919, Asn1945, Asn1959, Asn2034, Asn2115, Asn2144, Asn2350, Asn2385, Asn2435, Asn2471, Asn2509, Asn2535, Asn2553, Asn2595, Asn2633, Asn2753, Asn2768, Asn3008, Asn3140, Asn3169, Asn3225, Asn3488, Asn3528, Asn3707, Asn3726, and Asn3838
  • Modification sites at PhosphoSitePlus

Other Protein References for PKHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKHD1 Gene

Domains & Families for PKHD1 Gene

Gene Families for PKHD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PKHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PKHD1 Gene

GenScript: Design optimal peptide antigens:
  • Tigmin (PKHD1_HUMAN)
  • Polycystic kidney and hepatic disease 1 (Autosomal recessive), isoform CRA_a (Q86Z26_HUMAN)
genes like me logo Genes that share domains with PKHD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PKHD1 Gene

Function for PKHD1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PKHD1 Gene

UniProtKB/Swiss-Prot Function:
May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation.

Phenotypes From GWAS Catalog for PKHD1 Gene

Gene Ontology (GO) - Molecular Function for PKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16243292
GO:0038023 signaling receptor activity NAS 11919560
genes like me logo Genes that share ontologies with PKHD1: view
genes like me logo Genes that share phenotypes with PKHD1: view

Human Phenotype Ontology for PKHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PKHD1 Gene

MGI Knock Outs for PKHD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PKHD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKHD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKHD1 Gene

Localization for PKHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKHD1 Gene

Cell membrane. Single-pass type I membrane protein. Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKHD1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 4
endoplasmic reticulum 2
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0005623 cell IEA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA,IDA 20709014
GO:0005813 centrosome IDA 20554582
genes like me logo Genes that share ontologies with PKHD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PKHD1 Gene

Pathways & Interactions for PKHD1 Gene

PathCards logo

SuperPathways for PKHD1 Gene

No Data Available

Interacting Proteins for PKHD1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: P08F94-PKHD1_HUMAN ENSP00000360158 for PKHD1 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for PKHD1

Gene Ontology (GO) - Biological Process for PKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS --
GO:0006874 cellular calcium ion homeostasis IMP 17669261
GO:0008284 positive regulation of cell proliferation IMP 19943112
GO:0010824 regulation of centrosome duplication IMP 20554582
GO:0032006 regulation of TOR signaling IMP 19524688
genes like me logo Genes that share ontologies with PKHD1: view

No data available for Pathways by source and SIGNOR curated interactions for PKHD1 Gene

Drugs & Compounds for PKHD1 Gene

Products:

  1. Drug

(1) Drugs for PKHD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PKHD1: view

Transcripts for PKHD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PKHD1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKHD1

Alternative Splicing Database (ASD) splice patterns (SP) for PKHD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1: -
SP2: -
SP3: -

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70
SP1: - -
SP2:
SP3: -

Relevant External Links for PKHD1 Gene

GeneLoc Exon Structure for
PKHD1

Expression for PKHD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKHD1 Gene

mRNA expression in normal human tissues for PKHD1 Gene
mRNA expression by GTEx for PKHD1 GenemRNA expression by BioGPS for PKHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKHD1 Gene

This gene is overexpressed in Kidney - Cortex (x25.0) and Pancreas (x18.1).

Protein differential expression in normal tissues from HIPED for PKHD1 Gene

This gene is overexpressed in Plasma (36.6), Lung (15.3), and Urine (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKHD1 Gene



Protein tissue co-expression partners for PKHD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKHD1

SOURCE GeneReport for Unigene cluster for PKHD1 Gene:

Hs.662050

mRNA Expression by UniProt/SwissProt for PKHD1 Gene:

P08F94-PKHD1_HUMAN
Tissue specificity: Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain.

Evidence on tissue expression from TISSUES for PKHD1 Gene

  • Kidney(4.6)
  • Liver(2.3)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PKHD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • chin
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
  • stomach
Pelvis:
  • placenta
  • ureter
  • urinary bladder
  • uterus
General:
  • blood vessel
genes like me logo Genes that share expression patterns with PKHD1: view

Orthologs for PKHD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKHD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PKHD1 30 31
  • 99.33 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PKHD1 30 31
  • 85.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LOC537895 30
  • 83.74 (n)
PKHD1 31
  • 79 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pkhd1 30 17 31
  • 79.37 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PKHD1 31
  • 62 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PKHD1 31
  • 56 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PKHD1 30 31
  • 61.09 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pkhd1 30
  • 54.63 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3786 31
  • 22 (a)
 OneToMany
Species where no ortholog for PKHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PKHD1 Gene

ENSEMBL:
Gene Tree for PKHD1 (if available)
TreeFam:
Gene Tree for PKHD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKHD1: view image

Paralogs for PKHD1 Gene

Variants for PKHD1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKHD1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
433027 Pathogenic: Autosomal recessive polycystic kidney disease 52,056,169(-) CCTTTAGCATTTTCTC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
635422 Likely Pathogenic: Autosomal recessive polycystic kidney disease 51,753,287(-) C/A MISSENSE_VARIANT
635455 Uncertain Significance: Autosomal recessive polycystic kidney disease 51,748,363(-) G/C MISSENSE_VARIANT
635497 Pathogenic: Autosomal recessive polycystic kidney disease 51,753,355(-) T/A SPLICE_ACCEPTOR_VARIANT
636344 Uncertain Significance: not provided 51,903,645(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PKHD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PKHD1 Gene

Variant ID Type Subtype PubMed ID
dgv1005e201 CNV deletion 23290073
dgv10660n54 CNV loss 21841781
dgv3314n106 CNV deletion 24896259
dgv3315n106 CNV deletion 24896259
esv1002109 CNV deletion 20482838
esv1140845 CNV deletion 17803354
esv1154861 CNV insertion 17803354
esv1493351 CNV insertion 17803354
esv2002849 CNV deletion 18987734
esv23003 CNV gain+loss 19812545
esv23422 CNV gain 19812545
esv24252 CNV loss 19812545
esv2448462 CNV deletion 19546169
esv2551556 CNV deletion 19546169
esv2555448 CNV insertion 19546169
esv2587934 CNV deletion 19546169
esv2657311 CNV deletion 23128226
esv2661375 CNV deletion 23128226
esv2663435 CNV deletion 23128226
esv2664845 CNV deletion 23128226
esv2732071 CNV deletion 23290073
esv2732072 CNV deletion 23290073
esv2732074 CNV deletion 23290073
esv2732075 CNV deletion 23290073
esv2732077 CNV deletion 23290073
esv2732079 CNV deletion 23290073
esv2762592 CNV loss 21179565
esv3307601 CNV mobile element insertion 20981092
esv3308201 CNV mobile element insertion 20981092
esv33429 CNV gain 17666407
esv33924 CNV gain 17666407
esv3395609 CNV insertion 20981092
esv3444976 CNV insertion 20981092
esv3539724 CNV deletion 23714750
esv3539727 CNV deletion 23714750
esv3539728 CNV deletion 23714750
esv3539729 CNV deletion 23714750
esv3571054 CNV loss 25503493
esv3571055 CNV loss 25503493
esv3571056 CNV loss 25503493
esv3571057 CNV loss 25503493
esv3575 CNV loss 18987735
esv3608980 CNV gain 21293372
esv3608982 CNV loss 21293372
esv3608985 CNV loss 21293372
esv3608986 CNV loss 21293372
esv3608987 CNV loss 21293372
esv3608989 CNV loss 21293372
esv3608990 CNV loss 21293372
esv5268 CNV loss 18987735
esv6562 CNV loss 19470904
esv990745 CNV deletion 20482838
nsv1073978 CNV deletion 25765185
nsv1074571 CNV deletion 25765185
nsv1115718 CNV duplication 24896259
nsv1146252 CNV duplication 26484159
nsv349361 CNV deletion 16902084
nsv436518 CNV deletion 17901297
nsv499787 CNV loss 21111241
nsv507329 OTHER sequence alteration 20534489
nsv509134 CNV insertion 20534489
nsv510029 OTHER sequence alteration 20534489
nsv510899 OTHER complex 20534489
nsv511313 CNV loss 21212237
nsv511882 CNV loss 21212237
nsv526292 CNV gain 19592680
nsv5303 CNV deletion 18451855
nsv603102 CNV gain+loss 21841781
nsv603104 CNV loss 21841781
nsv820795 CNV deletion 20802225
nsv823689 CNV loss 20364138
nsv830662 CNV gain 17160897
nsv956511 CNV deletion 24416366
nsv956936 CNV deletion 24416366

Variation tolerance for PKHD1 Gene

Residual Variation Intolerance Score: 67.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.95; 93.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKHD1 Gene

Human Gene Mutation Database (HGMD)
PKHD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKHD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKHD1 Gene

Disorders for PKHD1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for PKHD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease 4 with or without polycystic liver disease
  • pkd4
polycystic liver disease
  • congenital cystic liver disease
cystic kidney disease
  • renal cyst
oligohydramnios
  • antepartum oligohydramnios
caroli disease, isolated
  • caroli disease
- elite association - COSMIC cancer census association via MalaCards
Search PKHD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PKHD1_HUMAN
  • Polycystic kidney disease 4, with or without polycystic liver disease (PKD4) [MIM:263200]: A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive. {ECO:0000269 PubMed:11898128, ECO:0000269 PubMed:11919560, ECO:0000269 PubMed:12506140, ECO:0000269 PubMed:12846734, ECO:0000269 PubMed:12874454, ECO:0000269 PubMed:15108281, ECO:0000269 PubMed:16677362, ECO:0000269 PubMed:19914852, ECO:0000269 PubMed:25701400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Loss-of-function PKHD1 variations may cause autosomal dominant polycystic liver disease (PCLD) in patients that lack variations in known causative genes, such as PRKCSH and SEC63. {ECO:0000269 PubMed:28375157}.

Additional Disease Information for PKHD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PKHD1: view

No data available for Genatlas for PKHD1 Gene

Publications for PKHD1 Gene

  1. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. (PMID: 20554582) Zhang J … Zhou J (Human molecular genetics 2010) 2 3 4
  2. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (PMID: 19914852) Gunay-Aygun M … Gahl WA (Molecular genetics and metabolism 2010) 3 4 23
  3. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. (PMID: 19940839) Denamur E … Wann AR (Kidney international 2010) 3 23 41
  4. Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation. (PMID: 16677362) Prelog M … Zimmerhackl LB (Pediatric transplantation 2006) 3 4 23
  5. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). (PMID: 16199545) Bergmann C … Zerres K (Journal of medical genetics 2005) 3 23 41

ExternalLinks

View latest publications for PKHD1 gene in Mastermind

Products for PKHD1 Gene

  • Addgene plasmids for PKHD1

Sources for PKHD1 Gene