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Aliases for PDZK1 Gene

Aliases for PDZK1 Gene

  • PDZ Domain Containing 1 2 3 5
  • Na/Pi Cotransporter C-Terminal-Associated Protein 1 3 4
  • Sodium-Hydrogen Exchanger Regulatory Factor 3 3 4
  • CFTR-Associated Protein Of 70 KDa 3 4
  • NaPi-Cap1 3 4
  • NHERF-3 3 4
  • NHERF3 3 4
  • CAP70 3 4
  • PDZD1 3 4
  • Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF3 3
  • Na(+)/H(+) Exchanger Regulatory Factor 3 4
  • PDZ-Containing Kidney Protein 1 3
  • PDZ Domain-Containing Protein 1 4
  • CLAMP 3

External Ids for PDZK1 Gene

Previous GeneCards Identifiers for PDZK1 Gene

  • GC01P144267
  • GC01P142349
  • GC01P143422
  • GC01P143496
  • GC01P143476
  • GC01P143216
  • GC01P144439
  • GC01P145726
  • GC01P119691

Summaries for PDZK1 Gene

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 Multiple Myeloma. Among its related pathways are Uricosurics Pathway, Pharmacodynamics and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include transporter activity and PDZ domain binding. An important paralog of this gene is PDZD3.

UniProtKB/Swiss-Prot for PDZK1 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZK1 Gene

Genomics for PDZK1 Gene

Regulatory Elements for PDZK1 Gene

Enhancers for PDZK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G145781 1.2 Ensembl ENCODE 11.3 -74.5 -74507 2.3 TBP INSM2 ZBTB40 RAD21 ZEB1 RFX5 GTF3C2 POLR3A ZNF366 RCOR1 POLR3C NUDT17 GNRHR2 PDZK1 CD160 PIAS3 ANKRD35 PIR35710 PIR40983
GH01G145713 1 ENCODE 12.2 -7.6 -7550 3.8 ATF1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 POLR3C PDZK1 NUDT17 CD160
GH01G145710 0.9 ENCODE 11.8 -3.4 -3429 1.2 PKNOX1 FOXA2 ATF1 ARID4B SIN3A RAD21 THRB RARA HSF1 CREM NUDT17 PDZK1 PEX11B CD160
GH01G145739 0.9 ENCODE 11.5 -32.3 -32301 1.2 NFIB INSM2 KLF17 FEZF1 RAD21 ZNF2 ZSCAN5C RCOR1 FOS ZNF391 PDZK1 CD160 PIR35710
GH01G145736 0.5 ENCODE 12.3 -28.7 -28749 0.8 ZNF362 ZNF512 NFE2 FOS ZNF592 NUDT17 PDZK1 CD160 PIR35710
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDZK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDZK1 Gene

Chromosome:
1
Start:
145,670,852 bp from pter
End:
145,708,148 bp from pter
Size:
37,297 bases
Orientation:
Minus strand

Genomic View for PDZK1 Gene

Genes around PDZK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZK1 Gene

Proteins for PDZK1 Gene

  • Protein details for PDZK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T2W1-NHRF3_HUMAN
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF3
    Protein Accession:
    Q5T2W1
    Secondary Accessions:
    • B4DPB9
    • E7EU02
    • O60450
    • Q5T5P6
    • Q9BQ41

    Protein attributes for PDZK1 Gene

    Size:
    519 amino acids
    Molecular mass:
    57129 Da
    Quaternary structure:
    • 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-terminal domain) (By similarity). Interacts (via C-terminal PDZ domain) with SLC9A3 (via C-terminal domain).

    Three dimensional structures from OCA and Proteopedia for PDZK1 Gene

    Alternative splice isoforms for PDZK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDZK1 Gene

Post-translational modifications for PDZK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDZK1 Gene

Domains & Families for PDZK1 Gene

Gene Families for PDZK1 Gene

Protein Domains for PDZK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDZK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T2W1

UniProtKB/Swiss-Prot:

NHRF3_HUMAN :
  • The PDZ 2 and 3 domains seem to be involved in the interaction with SLC26A3.
  • Belongs to the NHER family.
Domain:
  • The PDZ 2 and 3 domains seem to be involved in the interaction with SLC26A3.
  • Interaction with the C-terminus of CFTR could be mediated through independent binding of PDZ 1, 3 and 4 domains.
  • The PDZ 1 and 3 domains seem to be involved in the interaction with SLCO1A1.
  • The PDZ 1 domain interacts with BCR.
  • The PDZ 2 and 4 domains do not interact with the C-terminal region of SCARB1.
Family:
  • Belongs to the NHER family.
genes like me logo Genes that share domains with PDZK1: view

Function for PDZK1 Gene

Molecular function for PDZK1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PDZK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005124 scavenger receptor binding IEA --
GO:0005215 transporter activity TAS 9461128
GO:0005515 protein binding IPI 12471024
GO:0030165 PDZ domain binding IPI 16236806
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with PDZK1: view
genes like me logo Genes that share phenotypes with PDZK1: view

Animal Models for PDZK1 Gene

MGI Knock Outs for PDZK1:

Animal Model Products

CRISPR Products

miRNA for PDZK1 Gene

miRTarBase miRNAs that target PDZK1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDZK1 Gene

Localization for PDZK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZK1 Gene

Membrane; Peripheral membrane protein. Cell membrane. Note=Associated with peripheral membranes. Localizes to the apical compartment of proximal tubular cells and to sinusoidal liver membranes. {ECO:0000250 UniProtKB:Q9JJ40}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDZK1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDZK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0031526 brush border membrane ISS 15523054
GO:0031528 microvillus membrane IEA --
genes like me logo Genes that share ontologies with PDZK1: view

Pathways & Interactions for PDZK1 Gene

genes like me logo Genes that share pathways with PDZK1: view

Pathways by source for PDZK1 Gene

1 PharmGKB pathway for PDZK1 Gene
1 GeneGo (Thomson Reuters) pathway for PDZK1 Gene

Gene Ontology (GO) - Biological Process for PDZK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IDA 15523054
GO:0008283 cell proliferation TAS 9461128
GO:0015879 carnitine transport IDA 15523054
GO:0015893 drug transport NAS 16738539
GO:0034767 positive regulation of ion transmembrane transport IDA 15523054
genes like me logo Genes that share ontologies with PDZK1: view

No data available for SIGNOR curated interactions for PDZK1 Gene

Drugs & Compounds for PDZK1 Gene

(2) Drugs for PDZK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PDZK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with PDZK1: view

Transcripts for PDZK1 Gene

Unigene Clusters for PDZK1 Gene

PDZ domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDZK1 Gene

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

Relevant External Links for PDZK1 Gene

GeneLoc Exon Structure for
PDZK1
ECgene alternative splicing isoforms for
PDZK1

Expression for PDZK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDZK1 Gene

This gene is overexpressed in Kidney - Cortex (x30.0) and Liver (x8.4).

Protein differential expression in normal tissues from HIPED for PDZK1 Gene

This gene is overexpressed in Kidney (35.2) and Urine (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDZK1 Gene



Protein tissue co-expression partners for PDZK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDZK1 Gene:

PDZK1

SOURCE GeneReport for Unigene cluster for PDZK1 Gene:

Hs.444751

mRNA Expression by UniProt/SwissProt for PDZK1 Gene:

Q5T2W1-NHRF3_HUMAN
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.

Evidence on tissue expression from TISSUES for PDZK1 Gene

  • Kidney(4.9)
  • Liver(4.6)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with PDZK1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZK1 Gene

Orthologs for PDZK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDZK1 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia PDZK1 34
  • 89.19 (n)
-- 35
  • 86 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PDZK1 34 35
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Pdzk1 34 16 35
  • 80.92 (n)
rat
(Rattus norvegicus)
Mammalia Pdzk1 34
  • 80.6 (n)
oppossum
(Monodelphis domestica)
Mammalia PDZK1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZK1 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZK1 34 35
  • 62.66 (n)
lizard
(Anolis carolinensis)
Reptilia PDZK1 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzk1 34
  • 59.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23538 34
zebrafish
(Danio rerio)
Actinopterygii pdzk1 34 35
  • 56.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sip1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
Species where no ortholog for PDZK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDZK1 Gene

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

Paralogs for PDZK1 Gene

Paralogs for PDZK1 Gene

(4) SIMAP similar genes for PDZK1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PDZK1 Gene

genes like me logo Genes that share paralogs with PDZK1: view

Variants for PDZK1 Gene

Sequence variations from dbSNP and Humsavar for PDZK1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs387907448 Uncertain significance 145,687,960(-) CTATG(A/G)CTTCT reference, missense, utr-variant-5-prime
rs1000424277 -- 145,696,920(+) GTCGA(A/G)GTTTG intron-variant
rs1000727288 -- 145,703,114(+) GGCTC(A/C)GTTCA intron-variant
rs1000759288 -- 145,695,241(+) CATGG(C/T)GAAAC intron-variant
rs1001109905 -- 145,708,081(+) CAGAG(C/T)CTCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PDZK1 Gene

Variant ID Type Subtype PubMed ID
dgv331n100 CNV gain 25217958
dgv332n100 CNV gain+loss 25217958
dgv33n27 CNV loss 19166990
dgv531n54 CNV loss 21841781
dgv532n54 CNV gain 21841781
dgv533n54 CNV gain 21841781
dgv95e212 CNV gain 25503493
esv3572342 CNV gain 25503493
esv3587421 CNV loss 21293372
esv3587422 CNV gain 21293372
esv3894089 CNV loss 25118596
nsv1005055 CNV loss 25217958
nsv1015025 CNV gain 25217958
nsv463494 CNV gain 19166990
nsv469752 CNV loss 16826518
nsv470735 CNV gain 18288195
nsv547665 CNV gain+loss 21841781
nsv547670 CNV loss 21841781
nsv818411 CNV loss 17921354
nsv831392 CNV gain 17160897
nsv998178 CNV loss 25217958

Variation tolerance for PDZK1 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDZK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZK1 Gene

Disorders for PDZK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDZK1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
multiple myeloma
  • myeloma, multiple amyloidosis, systemic, included
- elite association - COSMIC cancer census association via MalaCards
Search PDZK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDZK1

Genetic Association Database (GAD)
PDZK1
Human Genome Epidemiology (HuGE) Navigator
PDZK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDZK1
genes like me logo Genes that share disorders with PDZK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDZK1 Gene

Publications for PDZK1 Gene

  1. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. (PMID: 19890391) Stark K. … Hengstenberg C. (PLoS ONE 2009) 3 22 46 64
  2. The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa. (PMID: 15766278) Rossmann H. … Lamprecht G. (Biochemistry 2005) 3 4 22 64
  3. Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains. (PMID: 9461128) Kocher O. … Brown L.F. (Lab. Invest. 1998) 2 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Predictive value of 8 genetic loci for serum uric acid concentration. (PMID: 20162742) Gunjaca G. … Polasek O. (Croat. Med. J. 2010) 3 22 64

Products for PDZK1 Gene

Sources for PDZK1 Gene

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