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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDZK1 Gene

protein-coding   GIFtS: 61
GCID: GC01P145726

PDZ domain containing 1
 Explore 14 diseases affiliated with
PDZK1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PDZK1    

Aliases
for PDZK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
PDZ Domain Containing 11 2     CLAMP2
NHERF31 2 3     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF32
PDZD11 2 3     NaPi-Cap13
Na/Pi Cotransporter C-Terminal-Associated Protein 12 3     PDZ-Containing Kidney Protein 12
Sodium-Hydrogen Exchanger Regulatory Factor 32 3     NaPi-Cap13
CAP702 3     Na(+)/H(+) Exchanger Regulatory Factor 33
NHERF-32 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


Summaries
for PDZK1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PDZK1:
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)

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. May function to connect SCARB1 with the
cellular machineries for intracellular cholesterol transport and/or metabolism. 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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167185.1  
Regulatory elements:
   SABiosciences 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 plasmid: PDZK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDZK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 145,764,074 bp from pter
Size:
 37,157 bases      Orientation:
 plus strand

Proteins
for PDZK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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. Binds to the C-terminal region of SLC26A3. Interacts via its PDZ1 domain
with the C-terminal domain of SCARB1. Forms a heterodimeric complex with SLC9A3R1. Interacts with AKAP2, BCR, CFTR,
SLC22A12, SLC22A4, SLC22A5, SLC26A6, 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 (By similarity)
Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Note=Associated
with peripheral membranes. Localizes to the apical compartment of proximal tubular cells and to sinusoidal liver
membranes (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T2W1

    • PDZK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000409291   ENSP00000342143   ENSP00000394485   ENSP00000403422  

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    Uscn Proteins for PDZK1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0031526brush border membrane ISS15523054


    PDZK1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PDZK1

    Protein Domains /
    Families
    for PDZK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDZK1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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
    Similarity: Belongs to the NHER family
    Similarity: Contains 4 PDZ (DHR) domains


    Function
    for PDZK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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. May function to connect SCARB1 with the
    cellular machineries for intracellular cholesterol transport and/or metabolism. 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

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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005124scavenger receptor binding IEA--
    GO:0005215transporter activity TAS9461128
    GO:0005515protein binding IPI15304510
    GO:0030165PDZ domain binding IPI16236806


    PDZK1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PDZK1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for PDZK1: Pdzk1tm1Dls Pdzk1tm1Oko
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pdzk1):
     homeostasis/metabolism  liver/biliary system 

    PDZK1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PDZK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    		Regulation of CFTR activity (norm and CF)0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDZK1

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

    5/37 Interacting proteins for PDZK1 (Q5T2W11, 2, 3 ENSP000003421434) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    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
    GUCY2CP250922, 3, ENSP000002611704MINT-1777734 I2D: score=1 STRING: ENSP00000261170
    ABCC2Q928873, ENSP000003594784I2D: score=2 STRING: ENSP00000359478
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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


    PDZK1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PDZK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDZK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PDZK1

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

    Search CenterWatch for drugs/clinical trials and news about PDZK1 / NHRF3 

    Transcripts
    for PDZK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 plasmid: PDZK1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/47 AceView cDNA sequences (see all 47):

    AK126719 AI559730 BQ930577 AW117734 BV196097 AI887669 AW663580 AI768568 
    BG433341 AI492285 BG428193 BV187450 AI273156 BV197930 BV175330 BV188433 
    BG616775 BG431510 AW243087 AI868561 BV188432 BV196098 AV687017 AV688896 

    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

    Expression
    for PDZK1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDZK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGATCTTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PDZK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Human kidney epithelial cell spheroids (Kidney spheroids for...)

    See PDZK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDZK1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PDZK1: 
              Estrogen Receptor Signaling in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for PDZK1 gene

    (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
    This gene was present in the common ancestor of chordates.

    Orthologs for PDZK1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PDZK11 PDZ domain containing 1 61.71(n)
    55.95(a)    		   418460  XM_416669.3  XP_416669.2 
    lizard
    (Anolis carolinensis)    		 Reptilia PDZK16
    		 --
    		 56(a)
    		 1 ↔ 1
    		 3(161936566-161954814)
    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 54.82(n)
    47.19(a)    		   337325  NM_001128670.1  NP_001122142.1 


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

    Paralogs
    for PDZK1 gene

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

    PDZK1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PDZK1
    PGOHUM00000244202 PGOHUM00000244223


    Genomic Variants
    for PDZK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/413 NCBI SNPs in PDZK1 are shown (see all 413)     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
    		F,--145726079(+) AACTAT/CTTATA 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1880224361,2
    		--145726188(+) CTTTCC/TTTCTT 3 -- us2k10--------
    rs16806611,2
    		--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 - 145764074 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for PDZK1
         10 CNVs: 8923 9894 6783 53388 3311 29579 48114 48115 2325 53561

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PDZK1 gene

    (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.)
    About This Section
    PDZK1 for disorders           About GeneDecksing

    OMIM gene information: 603831    OMIM disorders: --

    14 diseases for PDZK1:    About MalaCards
    multiple myeloma    myeloma    cholesterol    coronary heart disease
    cystic fibrosis    hepatitis c    gout    fibrosis
    lung carcinoma    adenoma    hepatitis    obesity
    hypertension    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: PDZK1 (12 documents)

    Export disorders for PDZK1 gene to outside databases

    Publications
    for PDZK1 gene

    (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

    PubMed articles for PDZK1 gene, integrated from 9 sources (see all 76):
    (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. (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. (2005)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Bcr (breakpoint cluster region) protein binds to PDZ-domains of scaffold protein PDZK1 and vesicle coat protein Mint3. (PubMed id 15494376)1, 2 Malmberg E.K.... Riordan J.R. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity. (PubMed id 11051556)1, 2 Wang S.... Li M. (2000)
    8. PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein. (PubMed id 10496535)1, 2 Kocher O....Knoll J.H. (1999)
    9. Intestinal anion exchanger down-regulated in adenoma (DRA) is inhibited by intracellular calcium. (PubMed id 19447883)1, 9 Lamprecht G....Gregor M. (2009)
    10. Modulation of renal apical organic anion transporter 4 function by two PDZ domain-containing proteins. (PubMed id 16236806)1, 9 Miyazaki H....Endou H. (2005)

    External Searches for PDZK1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PDZK1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5174 HGNC: 8821 AceView: PDZK1.2 Ensembl:ENSG00000174827 euGenes: HUgn5174
    ECgene: PDZK1 H-InvDB: PDZK1

    Other Databases showing PDZK1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDZK1 gene

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

    Intellectual Property
    for PDZK1 gene

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



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