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Aliases for PDZK1 Gene

Aliases for PDZK1 Gene

  • PDZ Domain Containing 1 2 3
  • 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 myeloma and multiple myeloma. Among its related pathways are Regulation of CFTR activity (norm and CF). GO annotations related to this gene include transporter activity and scavenger receptor binding. An important paralog of this gene is SLC9A3R1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZK1 Gene

Genomics for PDZK1 Gene

Regulatory Elements for PDZK1 Gene

Genomic Location for PDZK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PDZK1 Gene at MOPED

Post-translational modifications for PDZK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZK1 Gene

No data available for DME Specific Peptides for PDZK1 Gene

Domains 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 :
  • Q5T2W1
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.
  • Contains 4 PDZ (DHR) domains.
Family:
  • Belongs to the NHER family.
genes like me logo Genes that share domains with PDZK1: view

No data available for Gene Families for PDZK1 Gene

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

Phenotypes for PDZK1 Gene

MGI mutant phenotypes for PDZK1:
inferred from 2 alleles
GenomeRNAi human phenotypes for PDZK1:
genes like me logo Genes that share phenotypes with PDZK1: view

Animal Models for PDZK1 Gene

MGI Knock Outs for PDZK1:

miRNA for PDZK1 Gene

miRTarBase miRNAs that target PDZK1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PDZK1 Gene

Localization for PDZK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZK1 Gene

Cytoplasm. 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 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDZK1 Gene COMPARTMENTS Subcellular localization image for PDZK1 gene
Compartment Confidence
cytosol 3
endoplasmic reticulum 3
plasma membrane 3
nucleus 2
cytoskeleton 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDZK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane ISS --
GO:0016324 apical plasma membrane IEA --
GO:0031526 brush border membrane ISS --
GO:0031528 microvillus membrane IEA --
genes like me logo Genes that share ontologies with PDZK1: view

Pathways for PDZK1 Gene

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

Pathways by source 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

Compounds for PDZK1 Gene

(1) HMDB Compounds for PDZK1 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6

(2) Novoseek inferred chemical compound relationships for PDZK1 Gene

Compound -log(P) Hits PubMed IDs
carnitine 60.1 3
uric acid 43.7 3
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:

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 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 (30.0) and Liver (8.4).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for PDZK1 Gene

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.
genes like me logo Genes that share expressions with PDZK1: view

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 35
  • 99.49 (n)
  • 99.23 (a)
PDZK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDZK1 35
  • 88.14 (n)
  • 86.65 (a)
PDZK1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
PDZK1 35
  • 89.19 (n)
  • 87.26 (a)
mouse
(Mus musculus)
Mammalia Pdzk1 35
  • 80.92 (n)
  • 78.23 (a)
Pdzk1 16
Pdzk1 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDZK1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZK1 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdzk1 35
  • 80.6 (n)
  • 78.42 (a)
chicken
(Gallus gallus)
Aves PDZK1 35
  • 62.66 (n)
  • 56.62 (a)
PDZK1 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDZK1 36
  • 56 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23538 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzk1 35
  • 59.05 (n)
  • 52.2 (a)
zebrafish
(Danio rerio)
Actinopterygii pdzk1 35
  • 56.8 (n)
  • 49.56 (a)
pdzk1 36
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sip1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
Species with no ortholog for PDZK1:
  • 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

Selected 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 MAF
rs880279 -- 145,701,184(+) tgggc(A/G)acaga intron-variant
rs882210 -- 145,702,119(-) TCTGG(C/G)ATCAC intron-variant
rs882211 -- 145,702,397(-) GCTGT(C/G)TATCA intron-variant
rs900347 -- 145,708,339(+) CAGGC(C/T)GAGGA upstream-variant-2KB
rs974615 -- 145,672,207(-) AGGTA(A/T)TCCAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
dgv15n16 CNV Deletion 17901297
dgv46e201 CNV Deletion 23290073
esv529 CNV CNV 17122850
dgv33n27 CNV Loss 19166990
dgv349n71 CNV Loss 21882294
dgv350n71 CNV Gain 21882294
nsv428224 CNV Gain 18775914
dgv351n71 CNV Gain 21882294
nsv872241 CNV Gain+Loss 21882294
nsv831392 CNV Gain 17160897
nsv470735 CNV Gain 18288195
nsv818411 CNV Loss 17921354
esv33868 CNV Loss 17666407
essv3464 CNV CNV 17122850
nsv469752 CNV Loss 16826518
nsv463494 CNV Gain 19166990
dgv352n71 CNV Gain 21882294

Relevant External Links for PDZK1 Gene

HapMap Linkage Disequilibrium report
PDZK1

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

Disorders for PDZK1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for PDZK1 Gene including...

Search for PDZK1 Gene in MalaCards »

Relevant External Links for PDZK1

Genetic Association Database (GAD)
PDZK1
Human Genome Epidemiology (HuGE) Navigator
PDZK1
genes like me logo Genes that share disorders with PDZK1: view

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

Publications for PDZK1 Gene

  1. 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 23
  2. 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 23 48
  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
  4. Predictive value of 8 genetic loci for serum uric acid concentration. (PMID: 20162742) Gunjaca G. … Polasek O. (Croat. Med. J. 2010) 3 23
  5. Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series. (PMID: 20162743) Polasek O. … KolciA8 I. (Croat. Med. J. 2010) 3 23

Products for PDZK1 Gene

Sources for PDZK1 Gene

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