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PDZK1 Gene

protein-coding   GIFtS: 62
GCID: GC01P145726

PDZ Domain Containing 1

  See PDZK1-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)
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Aliases
PDZ Domain Containing 11 2     CLAMP2
Na/Pi Cotransporter C-Terminal-Associated Protein 12 3     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF32
Sodium-Hydrogen Exchanger Regulatory Factor 32 3     naPi-Cap12
CAP702 3     PDZ-Containing Kidney Protein 12
NHERF-32 3     NaPi-Cap13
NHERF32 3     Na(+)/H(+) Exchanger Regulatory Factor 33
PDZD12 3     PDZ Domain-Containing Protein 13
CFTR-Associated Protein Of 70 KDa2 3     

External Ids:    HGNC: 88211   Entrez Gene: 51742   Ensembl: ENSG000001748277   OMIM: 6038315   UniProtKB: Q5T2W13   

Export aliases for PDZK1 gene to outside databases

Previous GC identifers: GC01P144267 GC01P142349 GC01P143422 GC01P143496 GC01P143476 GC01P143216 GC01P144439 GC01P119691


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDZK1 Gene:
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate
the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface
proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor
class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and
overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are
located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Jan 2011)

GeneCards Summary for PDZK1 Gene:
PDZK1 (PDZ domain containing 1) is a protein-coding gene. Diseases associated with PDZK1 include myeloma, and multiple myeloma. GO annotations related to this gene include scavenger receptor binding and transporter activity. An important paralog of this gene is SLC9A3R2.

UniProtKB/Swiss-Prot: NHRF3_HUMAN, Q5T2W1
Function: A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their
surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of
regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster
proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the
associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance
through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for
normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its
effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6
to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the
regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important
role in tubule function (By similarity)

Gene Wiki entry for PDZK1 Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDZK1 gene promoter:
         GR   CREB   FOXF2   deltaCREB   GR-beta   GR-alpha   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDZK1 promoter sequence
   Search Chromatin IP Primers for PDZK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDZK1


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21

PDZK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDZK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145726:  view genomic region     (about GC identifiers)

Start:
145,726,918 bp from pter      End:
145,764,207 bp from pter
Size:
37,290 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NHRF3_HUMAN, Q5T2W1 (See protein sequence)
Recommended Name: Na(+)/H(+) exchange regulatory cofactor NHE-RF3  
Size: 519 amino acids; 57129 Da
Subunit: Interacts with PDZK1IP1 and ABCC2. Interacts (via PDZ domains 1 and 3) with SCARB1 (C-terminal domain).
Forms a heterodimeric complex with SLC9A3R1. Interacts with AKAP2, BCR, CFTR, SLC22A12, SLC22A4, SLC22A5,
SLC9A3R2 and SLC17A1. Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts
(via PDZ1 domain) directly with KLHL17; the interaction is important for integrity of actin cytoskeleton
structures in neurons. Interacts (via the first PDZ domain) with PTGIR (via non-isoprenylated C-terminus) (By
similarity). Interacts (via C-terminal PDZ domain) with SLC26A6 (via C-terminus domain) (By similarity).
Interacts (via C-terminal PDZ domain) with SLC9A3 (via C-terminus domain)
4 PDB 3D structures from and Proteopedia for PDZK1:
2EEI (3D)        2EEJ (3D)        2VSP (3D)        3TMH (3D)    
Secondary accessions: B4DPB9 E7EU02 O60450 Q5T5P6 Q9BQ41
Alternative splicing: 2 isoforms:  Q5T2W1-1   Q5T2W1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDZK1: NX_Q5T2W1

Explore proteomics data for PDZK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PDZK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001188254.1  NP_001188255.1  NP_002605.2  

    ENSEMBL proteins: 
     ENSP00000409291   ENSP00000342143   ENSP00000394485   ENSP00000403422  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q5T2W1

    ProtoNet protein and cluster: Q5T2W1

    UniProtKB/Swiss-Prot: NHRF3_HUMAN, Q5T2W1
    Domain: The PDZ 2 and 3 domains seem to be involved in the interaction with SLC26A3 (By similarity)
    Domain: Interaction with the C-terminus of CFTR could be mediated through independent binding of PDZ 1, 3 and 4
    domains (By similarity)
    Domain: The PDZ 1 and 3 domains seem to be involved in the interaction with SLCO1A1 (By similarity)
    Domain: The PDZ 1 domain interacts with BCR
    Domain: The PDZ 2 and 4 domains do not interact with the C-terminal region of SCARB1 (By similarity)
    Similarity: Belongs to the NHER family
    Similarity: Contains 4 PDZ (DHR) domains


    Find genes that share domains with PDZK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NHRF3_HUMAN, Q5T2W1
    Function: A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their
    surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of
    regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster
    proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the
    associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance
    through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for
    normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its
    effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6
    to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the
    regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important
    role in tubule function (By similarity)

         Genatlas biochemistry entry for PDZK1:
    PDZ domain containing protein,highly homolog to rat Diphor-1,upregulated by a restricted phosphate diet which
    shares homology to the NaYH exchanger regulatory factor

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005124scavenger receptor binding IEA--
    GO:0005215transporter activity TAS9461128
    GO:0005515protein binding IPI12471024
    GO:0030165PDZ domain binding IPI16236806
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with PDZK1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PDZK1:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pdzk1):
     homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with PDZK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PDZK1: Pdzk1tm1Dls Pdzk1tm1Oko

       genOway: Develop your customized and physiologically relevant rodent model for PDZK1

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    6 qRT-PCR Assays for microRNAs that regulate PDZK1:
    hsa-miR-9 hsa-miR-127-5p hsa-miR-15b* hsa-miR-590-3p hsa-miR-3907 hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidPDZK1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NHRF3_HUMAN, Q5T2W1: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Cell
    membrane (By similarity). Note=Associated with peripheral membranes. Localizes to the apical compartment of
    proximal tubular cells and to sinusoidal liver membranes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum3
    plasma membrane3
    nucleus2
    cytoskeleton1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ISS--
    GO:0016324apical plasma membrane IEA--
    GO:0031526brush border membrane ISS--
    GO:0031528microvillus membrane IEA--

    Find genes that share ontologies with PDZK1           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).
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    SuperPaths for PDZK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PDZK1
        Regulation of CFTR activity (norm and CF)


        Pathway & Disease-focused RT2 Profiler PCR Array including PDZK1: 
              Estrogen Receptor Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDZK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDZK1 (Q5T2W11, 2, 3 ENSP000003421434) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135691, 2, 3, ENSP000000030844EBI-349819,EBI-349854 MINT-1783757 MINT-1790139 MINT-73265 MINT-1783586 MINT-1783789 MINT-73267 MINT-73266 I2D: score=4 STRING: ENSP00000003084
    BCRP112742, 3, ENSP000003035074MINT-69532 MINT-69529 MINT-69530 MINT-69531 MINT-69533 I2D: score=1 STRING: ENSP00000303507
    CLCN3P517902, 3, ENSP000002615144MINT-1783611 MINT-1783832 MINT-1790188 I2D: score=3 STRING: ENSP00000261514
    ENSG00000227460Q96PV03, ENSP000004142594I2D: score=1 STRING: ENSP00000414259
    GUCY2CP250922, 3, ENSP000002611704MINT-1777734 I2D: score=1 STRING: ENSP00000261170
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IDA15523054
    GO:0008283cell proliferation TAS9461128
    GO:0015879carnitine transport IDA15523054
    GO:0015893drug transport NAS16738539
    GO:0034767positive regulation of ion transmembrane transport IDA15523054

    Find genes that share ontologies with PDZK1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDZK1 (NHRF3)

    1 HMDB Compound for PDZK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    2 Novoseek inferred chemical compound relationships for PDZK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 60.1 6 18322073 (1), 17072090 (1), 19091402 (1)
    uric acid 43.7 2 20162742 (1), 20090896 (1), 20162743 (1)



    Find genes that share compounds with PDZK1           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 )
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    REFSEQ mRNAs for PDZK1 gene (3 alternative transcripts): 
    NM_001201325.1  NM_001201326.1  NM_002614.4  

    Unigene Cluster for PDZK1:

    PDZ domain containing 1
    Hs.444751  [show with all ESTs]
    Unigene Representative Sequence: NM_002614
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000443667 ENST00000344770(uc001eon.2) ENST00000429537 ENST00000465595
    ENST00000466386 ENST00000417171(uc001eoo.2 uc010oza.2) ENST00000451928

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    Additional mRNA sequence: 

    AF012281.1 AK298269.1 AK313100.1 BC006496.2 BC006518.2 

    13 DOTS entries:

    DT.100758852  DT.214579  DT.92436855  DT.121355533  DT.75103087  DT.100758848  DT.40215501  DT.40215503 
    DT.121355561  DT.100716901  DT.121355573  DT.214578  DT.91707876 

    Selected AceView cDNA sequences (see all 47):

    AI559730 AK126719 AW663580 BV187450 BV196097 BQ930577 AW117734 AI887669 
    AW243087 BV188433 AI273156 BG616775 BG431510 BG428193 BV197930 BV175330 
    AI768568 AI868561 AI492285 BG433341 BV196098 BV188432 BQ187272 R98715 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PDZK1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b
    SP1:                    -                     
    SP2:              -     -                     
    SP3:                                          


    ECgene alternative splicing isoforms for PDZK1

    (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)
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    PDZK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATCTTTTC
    PDZK1 Expression
    About this image


    PDZK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Spermatid Seminiferous Tubules
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PDZK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDZK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444751

    UniProtKB/Swiss-Prot: NHRF3_HUMAN, Q5T2W1
    Tissue specificity: Expression is limited to epithelial cells. Expressed in the kidney (brush border of proximal
    tubule), pancreas, liver, and small intestine. Expressed at a lower level in the adrenal cortex, testis and
    stomach. Overexpressed in breast, renal and lung carcinomas

        Pathway & Disease-focused RT2 Profiler PCR Array including PDZK1: 
              Estrogen Receptor Signaling in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDZK1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdzk11 , 5 PDZ domain containing 11, 5 80.92(n)1
    78.23(a)1
      3 (42.00 cM)5
    590201  NM_001146001.11  NP_001139473.11 
     968292845 
    chicken
    (Gallus gallus)
    Aves PDZK11 PDZ domain containing 1 62.66(n)
    56.62(a)
      418460  XM_416669.4  XP_416669.3 
    lizard
    (Anolis carolinensis)
    Reptilia PDZK16
    PDZ domain containing 1
    56(a)
    1 ↔ 1
    3(161929548-161954814)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.235382 Xenopus laevis, Similar to PDZ domain containing 1, more 72.82(n)    BC044331.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pdzk11 PDZ domain containing 1 56.8(n)
    49.56(a)
      337325  NM_001128670.1  NP_001122142.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sip16
    SRY interacting protein 1
    24(a)
    1 → many
    2R(13282101-13292678)


    ENSEMBL Gene Tree for PDZK1 (if available)
    TreeFam Gene Tree for PDZK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDZK1 gene
    SLC9A3R22  SLC9A3R12  PDZD32  
    4 SIMAP similar genes for PDZK1 using alignment to 1 protein entry:     NHRF3_HUMAN:
    PDZK1P1    PDZK1P2    ARHGAP23    PDZD3

    Find genes that share paralogs with PDZK1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PDZK1
    PGOHUM00000244202 PGOHUM00000244223


    (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)
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    Selected SNPs for PDZK1 (see all 492)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121298611,2
    C,F,A,H--145725689(+) GCAACG/ATGAGT 3 -- us2k128Minor allele frequency- A:0.32NS EA NA WA CSA 2773
    rs1384148601,2
    --145725711(+) ACATCA/CTATTG 3 -- us2k10--------
    rs1929412961,2
    --145725785(+) AAGGCA/GGGAGG 3 -- us2k10--------
    rs1855417731,2
    --145725963(+) TGAGCG/TGAGAT 3 -- us2k10--------
    rs1492427751,2
    --145726014(+) CTCCAC/TCTCAA 3 -- us2k10--------
    rs781193131,2
    C,F--145726079(+) AACTAT/CTTATA 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1880224361,2
    --145726188(+) CTTTCC/TTTCTT 3 -- us2k10--------
    rs16806611,2
    C--145726396(-) gccacA/Gtggca 3 -- us2k10--------
    rs1913353841,2
    --145726471(+) ATTGCA/GATGAA 3 -- us2k10--------
    rs1839601661,2
    --145726477(+) ATGAAC/TTCAGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDZK1 (145726918 - 145764207 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDZK1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv15n16CNV Deletion17901297
    dgv46e201CNV Deletion23290073
    nsv818411CNV Loss17921354
    dgv33n27CNV Loss19166990
    nsv469752CNV Loss16826518
    dgv349n71CNV Loss21882294
    esv33868CNV Loss17666407
    nsv428224CNV Gain18775914
    nsv831392CNV Gain17160897
    dgv350n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDZK1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDZK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603831    OMIM disorders: --

    2 diseases for PDZK1:    
    About MalaCards
    myeloma    multiple myeloma


    Find genes that share disorders with PDZK1           About GenesLikeMe

    Genetic Association Database (GAD): PDZK1
    Human Genome Epidemiology (HuGE) Navigator: PDZK1 (12 documents)

    Export disorders for PDZK1 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)
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    PubMed articles for PDZK1 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with PDZK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains. (PubMed id 9461128)1, 2, 3 Kocher O.... Brown L.F. (Lab. Invest. 1998)
    2. The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa. (PubMed id 15766278)1, 2, 9 Rossmann H.... Lamprecht G. (Biochemistry 2005)
    3. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. (PubMed id 19890391)1, 4, 9 Stark K....Hengstenberg C. (PLoS ONE 2009)
    4. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (J. Lipid Res. 2010)
    5. Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms. (PubMed id 19861489)1, 4 van der Harst P....Navis G. (Hum. Mol. Genet. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. (PubMed id 19503597)1, 4 Kolz M....Gieger C. (PLoS Genet. 2009)
    8. Genetic variants at the PDZ-interacting domain of the scavenger receptor class B type I interact with diet to influence the risk of metabolic syndrome in obese men and women. (PubMed id 19321583)1, 4 Junyent M....OrdovA!s J.M. (J. Nutr. 2009)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 5174 HGNC: 8821 AceView: PDZK1.2 Ensembl:ENSG00000174827 euGenes: HUgn5174
    ECgene: PDZK1 H-InvDB: PDZK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDZK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDZK1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDZK1 gene:
    Search GeneIP for patents involving PDZK1

    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, eBioscience, antibodies-online, 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
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