QuickView for PDZK1;jsessionid=92BB3F68556BF22B30BF4D2FDC885E82 (gene)

Gene Symbol:

PDZK1 Homo sapiens

Full name:

PDZ domain containing 1

Synonyms:

CAP70, CLAMP, NHERF-3, NHERF3, PDZD1, Na(+)/H(+) exchange regulatory cofactor NHE-RF3, CFTR-associated protein of 70 kDa, PDZ-containing kidney protein 1, na/Pi cotransporter C-terminal-associated protein 1, naPi-Cap1, sodium-hydrogen exchanger regulatory factor 3

Genomic Location:

Chr 1: 144439083-144475430

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NKX25_01 ,  HNF4ALPHA_Q6 ,  TCANNTGAY_SREBP1_01 ,  PPARA_01 ,  TGACCTY_ERR1_Q2 ,  HEB_Q6 ,  AML1_01 ,  HNF4_DR1_Q3 ,  HNF4_01 ,  DR1_Q3 ,  HNF4_Q6 ,  AML1_Q6 ,  COUP_DR1_Q6 ,  ER_Q6_01 ,  FOXM1_01 ,  PPAR_DR1_Q2 ,  COREBINDINGFACTOR_Q6 ,  CEBPGAMMA_Q6 ,  HNF4_01_B ,  HNF6_Q6

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Cytogenetic Map:

1q21.1

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