Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PKHD1 Gene

protein-coding   GIFtS: 51
GCID: GC06M051480

Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive)

(Previous name: TIG multiple domains 1)
(Previous symbol: TIGM1)
  See PKHD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive)1 2     tigmin1 2
TIGM11 2 3     Polycystic Kidney And Hepatic Disease 1 Protein2 3
FCYT2 3 5     ARPKD2 5
TIG Multiple Domains 11 2     Polyductin3
fibrocystin1 2     Tigmin3
polyductin1 2     

External Ids:    HGNC: 90161   Entrez Gene: 53142   Ensembl: ENSG000001709277   OMIM: 6067025   UniProtKB: P08F943   

Export aliases for PKHD1 gene to outside databases

Previous GC identifers: GC06M051482 GC06M051526 GC06M051588 GC06M051314


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 (polycystic kidney and hepatic disease 1 (autosomal recessive)) is a protein-coding gene. Diseases associated with PKHD1 include polycystic kidney disease, autosomal recessive, and polycystic kidney and hepatic disease. GO annotations related to this gene include receptor activity. An important paralog of this gene is PKHD1L1.

UniProtKB/Swiss-Prot: PKHD1_HUMAN, P08F94
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PKHD1 gene promoter:
         AREB6   MEF-2A   CREB   Pax-3   ATF-2   deltaCREB   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKHD1 promoter sequence
   Search Chromatin IP Primers for PKHD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.2   Ensembl cytogenetic band:  6p12.2   HGNC cytogenetic band: 6p21.2-p12

PKHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKHD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M051480:  view genomic region     (about GC identifiers)

Start:
51,480,098 bp from pter      End:
51,952,423 bp from pter
Size:
472,326 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PKHD1_HUMAN, P08F94 (See protein sequence)
Recommended Name: Fibrocystin precursor  
Size: 4074 amino acids; 446702 Da
Secondary accessions: Q5VUA2 Q5VUA3 Q5VWV1 Q86Z26 Q8TCZ9
Alternative splicing: 2 isoforms:  P08F94-1   P08F94-2   

Explore the universe of human proteins at neXtProt for PKHD1: NX_P08F94

Explore proteomics data for PKHD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn54, Asn226, Asn276, Asn357, Asn387, Asn507, Asn520, Asn529, Asn641, Asn711,
                                 Asn830, Asn869, Asn967, Asn977, Asn1065, Asn1084, Asn1116, Asn1135, Asn1234, Asn1241 (see all 64)
  • Modification sites at PhosphoSitePlus

  • See PKHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_619639.3  NP_733842.2  

    ENSEMBL proteins: 
     ENSP00000360158   ENSP00000341097  

    PKHD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PKHD1
    GenScript Custom Purified and Recombinant Proteins Services for PKHD1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PKHD1

     
    Search eBioscience for Proteins for PKHD1 

    PKHD1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PKHD1
    Novus Biologicals PKHD1 Antibodies
    Abcam antibodies for PKHD1
    Cloud-Clone Corp. Antibodies for PKHD1
    Search ThermoFisher Antibodies for PKHD1
    LSBio Antibodies in human, mouse, rat for PKHD1

    PKHD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PKHD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PKHD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PKHD1
    Cloud-Clone Corp. CLIAs for PKHD1
    Search eBioscience for ELISAs for PKHD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 8):
     IPR014756 Ig_E-set
     IPR002909 IPT
     IPR012334 Pectin_lyas_fold
     IPR011050 Pectin_lyase_fold/virulence
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P08F94

    ProtoNet protein and cluster: P08F94

    UniProtKB/Swiss-Prot: PKHD1_HUMAN, P08F94
    Similarity: Contains 2 G8 domains
    Similarity: Contains 12 IPT/TIG domains
    Similarity: Contains 9 PbH1 repeats


    Find genes that share domains with PKHD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKHD1_HUMAN, P08F94
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS11919560
    GO:0005515protein binding IPI16243292
         
    Find genes that share ontologies with PKHD1           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pkhd1):
     cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  immune system  liver/biliary system  mortality/aging  nervous system 
     normal  renal/urinary system  reproductive system  respiratory system 

    Find genes that share phenotypes with PKHD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PKHD1: Pkhd1tm1Cjwa Pkhd1tm1Rbu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKHD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PKHD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PKHD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKHD1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PKHD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKHD1 (see all 36):
    hsa-miR-100* hsa-miR-4307 hsa-miR-99b* hsa-miR-138-2* hsa-miR-507 hsa-miR-29b-1* hsa-miR-548l hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidPKHD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PKHD1
    Predesigned siRNA for gene silencing in human, mouse, rat PKHD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PKHD1

    Clone
    Products:
         
    OriGene clones in human, mouse for PKHD1 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PKHD1 (NM_138694)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKHD1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKHD1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PKHD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PKHD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKHD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PKHD1_HUMAN, P08F94: Membrane; Single-pass type I membrane protein (Probable). Cytoplasm, cytoskeleton, cilium
    basal body. Cell projection, cilium. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule
    organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IDA16243292
    GO:0031362anchored component of external side of plasma membrane TAS11919560

    Find genes that share ontologies with PKHD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Pathway & Disease-focused RT2 Profiler PCR Array including PKHD1: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKHD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PKHD1 (P08F943 ENSP000003601584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAMLGP490693, ENSP000002971564I2D: score=1 STRING: ENSP00000297156
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ISS--
    GO:0006874cellular calcium ion homeostasis IMP17669261
    GO:0008284positive regulation of cell proliferation IMP19943112
    GO:0010824regulation of centrosome duplication IMP--
    GO:0016337cell-cell adhesion ISS--

    Find genes that share ontologies with PKHD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PKHD1

    1 Novoseek inferred chemical compound relationship for PKHD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 5 16956880 (3), 17283055 (1)



    Find genes that share compounds with PKHD1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PKHD1 gene (2 alternative transcripts): 
    NM_138694.3  NM_170724.2  

    Unigene Cluster for PKHD1:

    Polycystic kidney and hepatic disease 1 (autosomal recessive)
    Hs.662050  [show with all ESTs]
    Unigene Representative Sequence: AY074797
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371117(uc003pah.1) ENST00000340994(uc010jzn.1 uc003pai.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PKHD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKHD1 (see all 36):
    hsa-miR-100* hsa-miR-4307 hsa-miR-99b* hsa-miR-138-2* hsa-miR-507 hsa-miR-29b-1* hsa-miR-548l hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidPKHD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PKHD1
    Predesigned siRNA for gene silencing in human, mouse, rat PKHD1
    Clone
    Products:
         
    OriGene clones in human, mouse for PKHD1 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PKHD1 (NM_138694)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKHD1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKHD1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PKHD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PKHD1
      QuantiTect SYBR Green Assays in human, mouse, rat PKHD1
      QuantiFast Probe-based Assays in human, mouse, rat PKHD1

    Additional mRNA sequence: 

    AF480064.1 AK091971.1 AK128031.1 AY074797.1 AY092083.1 BX538137.1 BX647896.1 

    4 DOTS entries:

    DT.422662  DT.99998723  DT.101971780  DT.75186198 

    Selected AceView cDNA sequences (see all 44):

    AF480064 AX747285 AI022192 NM_138694 AA359737 AK091971 NM_170724 AW237625 
    AY074797 AK128031 BX506521 BX491845 BG431652 AY092083 BX492140 BX492141 
    CK825426 AW130251 BG150235 BX492123 AI743520 BX101526 AI203243 BX647896 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PKHD1    About this scheme

    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:                                                        -                                                   


    ECgene alternative splicing isoforms for PKHD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    PKHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PKHD1 Expression
    About this image


    PKHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     NULL (Uncategorized)
             Endoderm progenitor-like cells
    PKHD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKHD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662050

    UniProtKB/Swiss-Prot: PKHD1_HUMAN, P08F94
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including PKHD1: 
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PKHD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PKHD1
    QuantiTect SYBR Green Assays in human, mouse, rat PKHD1
    QuantiFast Probe-based Assays in human, mouse, rat PKHD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKHD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for PKHD1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkhd11 , 5 polycystic kidney and hepatic disease 11, 5 79.37(n)1
    72.74(a)1
      1 (6.27 cM)5
    2410351  NM_153179.31  NP_694819.21 
     200577795 
    chicken
    (Gallus gallus)
    Aves PKHD11 polycystic kidney and hepatic disease 1 (autosomal more 61.09(n)
    51.8(a)
      422044  XM_420050.4  XP_420050.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkhd11 polycystic kidney and hepatic disease 1 (autosomal more 54.63(n)
    45.24(a)
      100496306  XM_002933603.2  XP_002933649.2 


    ENSEMBL Gene Tree for PKHD1 (if available)
    TreeFam Gene Tree for PKHD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PKHD1 gene
    PKHD1L12  TMEM22  CEMIP2  

    Find genes that share paralogs with PKHD1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PKHD1 (see all 10050)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1466806891,2,,4
    FPolycystic kidney disease, autosomal recessive (ARPKD)4 --51484235(+) GTGGCG/AGCTAA 2 /R /C mis11Minor allele frequency- A:0.00NA 4546
    rs1451847921,2,,4
    C,FPolycystic kidney disease, autosomal recessive (ARPKD)4 --51524339(+) AGATTC/GATTCA 2 Q E mis12Minor allele frequency- G:0.01NA EU 5843
    rs1509256741,2,,4
    C,FPolycystic kidney disease, autosomal recessive (ARPKD)4 --51637561(+) AGCACT/CGTAAA 4 /S /G mis12Minor allele frequency- C:0.00NA EU 5871
    rs77663661,2,,4
    C,F,HPolycystic kidney disease, autosomal recessive (ARPKD)4 --51712759(+) AAAGGT/CTGCTG 4 /T /A mis18Minor allele frequency- C:0.01NS EA NA WA EU 6383
    rs1806755841,2,,4
    CPolycystic kidney disease, autosomal recessive (ARPKD)4 --51799117(+) GCTTGC/TCCCCT 4 D G mis10--------
    VAR_0185234
    Polycystic kidney disease, autosomal recessive (ARPKD)4--see VAR_0185232 I T mis40--------
    VAR_0664384
    Polycystic kidney disease, autosomal recessive (ARPKD)4--see VAR_0664382 R C mis40--------
    VAR_0185394
    Polycystic kidney disease, autosomal recessive (ARPKD)4--see VAR_0185392 T P mis40--------
    VAR_0185704
    Polycystic kidney disease, autosomal recessive (ARPKD)4--see VAR_0185702 Y C mis40--------
    VAR_0664284
    Polycystic kidney disease, autosomal recessive (ARPKD)4--see VAR_0664282 V G mis40--------

    HapMap Linkage Disequilibrium report for PKHD1 (51480098 - 51730098 bp, first 250kb of PKHD1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PKHD1 (see all 45):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2002849CNV Deletion18987734
    esv990745CNV Deletion20482838
    esv2732075CNV Deletion23290073
    nsv820795CNV Deletion20802225
    dgv1052e201CNV Deletion23290073
    esv2663435CNV Deletion23128226
    esv2732072CNV Deletion23290073
    esv2732079CNV Deletion23290073
    esv2587934CNV Deletion19546169
    esv2657311CNV Deletion23128226

    Human Gene Mutation Database (HGMD): PKHD1
    Locus Specific Mutation Databases (LSDB): PKHD1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PKHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PKHD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 606702   
    OMIM disorders: 263200  
    UniProtKB/Swiss-Prot: PKHD1_HUMAN, P08F94
  • Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]: A severe form of polycystic kidney
    disease affecting the kidneys and 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 7 diseases for PKHD1:    
    About MalaCards
    polycystic kidney disease, autosomal recessive    polycystic kidney and hepatic disease    congenital hepatic fibrosis    polycystic kidney disease
    renal-hepatic-pancreatic dysplasia    kidney disease    polycystic liver disease

    2 diseases from the University of Copenhagen DISEASES database for PKHD1:
    Polycystic kidney disease     Polycystic liver disease

    Find genes that share disorders with PKHD1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PKHD1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arpkd 98.8 392 18286309 (10), 15067314 (8), 15706593 (8), 15108281 (6) (see all 74)
    congenital hepatic fibrosis 91.3 9 16523049 (3), 19914852 (2), 16294159 (1), 12846734 (1) (see all 5)
    polycystic kidney diseases 91.1 22 15458427 (2), 17160262 (2), 15649945 (1), 11898128 (1) (see all 18)
    adpkd 83 4 11981261 (1), 18235088 (1), 12647363 (1)
    carolis disease 76.3 4 16294159 (1), 12846734 (1), 14971004 (1)
    renal cyst 71.3 8 18286309 (2), 15067314 (2), 15029248 (1), 19346236 (1) (see all 5)
    cystic kidney disease 61 1 15029248 (1)
    liver diseases 60.6 13 15649945 (1), 11898128 (1), 16199545 (1), 19524688 (1) (see all 12)
    cysts 47.6 6 16801329 (1), 14741187 (1), 15067314 (1), 20138815 (1)
    congenital malformation 43.8 6 19292732 (3), 18286309 (1), 18947299 (1)

    GeneTests: PKHD1
    GeneReviews: PKHD1
    Genetic Association Database (GAD): PKHD1
    Human Genome Epidemiology (HuGE) Navigator: PKHD1 (5 documents)

    Export disorders for PKHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for PKHD1 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with PKHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. (PubMed id 15458427)1, 2, 9 Menezes L.F....Onuchic L.F. (Kidney Int. 2004)
    2. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. (PubMed id 19914852)1, 2, 9 Gunay-Aygun M.... Gahl W.A. (Mol. Genet. Metab. 2010)
    3. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). (PubMed id 15108277)1, 2, 9 Bergmann C.... Zerres K. (Hum. Mutat. 2004)
    4. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). (PubMed id 15108281)1, 2, 9 Bergmann C....Zerres K. (Hum. Mutat. 2004)
    5. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). (PubMed id 16199545)1, 4, 9 Bergmann C....Zerres K. (J. Med. Genet. 2005)
    6. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). (PubMed id 12506140)1, 2, 9 Bergmann C.... Zerres K. (J. Am. Soc. Nephrol. 2003)
    7. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. (PubMed id 12846734)1, 2, 9 Rossetti S.... Harris P.C. (Kidney Int. 2003)
    8. PKHD1, 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. (PubMed id 11898128)1, 2, 9 Onuchic L.F.... Germino G.G. (Am. J. Hum. Genet. 2002)
    9. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. (PubMed id 19940839)1, 4, 9 Denamur E....Wann A.R. (Kidney Int. 2010)
    10. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. (PubMed id 14978161)1, 2, 9 Wang S.... Zhou J. (J. Am. Soc. Nephrol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5314 HGNC: 9016 AceView: PKHD1 Ensembl:ENSG00000170927 euGenes: HUgn5314
    ECgene: PKHD1 H-InvDB: PKHD1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PKHD1 Pharmacogenomics, SNPs, Pathways
    Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)http://www.humgen.rwth-aachen.de/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PKHD1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PKHD1 gene:
    Search GeneIP for patents involving PKHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PKHD1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PKHD1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PKHD1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PKHD1   OriGene Custom Protein Services for PKHD1  

     
     
     Block miRNA regulation of human, mouse, rat PKHD1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PKHD1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKHD1 Predesigned siRNA for gene silencing in human, mouse, rat PKHD1
     QuantiFast Probe-based Assays in human, mouse, rat PKHD1 QuantiTect SYBR Green Assays in human, mouse, rat PKHD1
     PCR Arrays including human, mouse, rat PKHD1 Search Chromatin IP Primers for PKHD1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PKHD1  GeneGlobe Interaction Network for PKHD1
     Regulatory tfbs in PKHD1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PKHD1 GenScript cDNA clones with any tag delivered in your preferred vector for PKHD1
     GenScript Custom Assay Services for PKHD1 GenScript Custom overexpressing Cell Line Services for PKHD1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PKHD1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PKHD1 antibodies
     Antibodies for PKHD1
     See all of Abcam's Antibodies, Kits and Proteins for PKHD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PKHD1
     Antibodies for PKHD1
     ELISAs for PKHD1
     CLIAs for PKHD1



     Browse ESI BIO Cell Lines and PureStem Progenitors for PKHD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKHD1
     SwitchGear 3'UTR luciferase reporter plasmids for PKHD1
     SwitchGear Promoter luciferase reporter plasmids for PKHD1
     Search ThermoFisher Antibodies for PKHD1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKHD1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKHD1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PKHD1
     LSBio Antibodies in human, mouse, rat for PKHD1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for PKHD1
      Search eBioscience for proteins for PKHD1
      Search eBioscience for elisas for PKHD1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PKHD1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4