PDZK1

PDZ domain containing 1
Rendering based on PDB 2EEI.
Available structures PDB 2EEI, 2EEJ, 2VSP
Identifiers
Symbols	PDZK1; CAP70; CLAMP; NHERF-3; NHERF3; PDZD1
External IDs	OMIM: 603831 MGI: 1928901 HomoloGene: 1964 GeneCards: PDZK1 Gene
Gene Ontology Molecular function • scavenger receptor binding • transporter activity • protein binding • PDZ domain binding Cellular component • cytoplasm • membrane • brush border membrane Biological process • transport • transport • cell proliferation • carnitine transport • drug transport • positive regulation of ion transmembrane transport
Orthologs
Species	Human	Mouse
Entrez	5174	59020
Ensembl	ENSG00000174827	ENSMUSG00000038298
UniProt	n/a	Q9JIL4
RefSeq (mRNA)	NM_001201325.1	NM_021517
RefSeq (protein)	NP_001188254.1	NP_067492
Location (UCSC)	Chr 1: 145.73 – 145.76 Mb	Chr 3: 96.63 – 96.67 Mb
PubMed search	[1]	[2]

Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the PDZK1 gene.^[1][2]

Interactions

PDZK1 has been shown to interact with AKAP10,^[3] FARP2,^[3] Sodium-hydrogen antiporter 3 regulator 1,^[3] SLC22A12,^[3] SLK,^[3] SLC22A4,^[3] CLCN3,^[4] PDZK1IP1,^[3][5][6] Cystic fibrosis transmembrane conductance regulator^[4][7] and SLC34A3.^[3]

Related gene problems

• TAR syndrome^[8]
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome

References

1. ^ Kocher O, Comella N, Tognazzi K, Brown LF (Mar 1998). "Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains". Lab Invest 78 (1): 117–25. PMID 9461128. 
2. ^ "Entrez Gene: PDZK1 PDZ domain containing 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5174. 
3. ^ ^{a b c d e f g h} Gisler, Serge M; Pribanic Sandra, Bacic Desa, Forrer Patrik, Gantenbein Andrea, Sabourin Luc A, Tsuji Akira, Zhao Zhuo-Shen, Manser Edward, Biber Jürg, Murer Heini (Nov. 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. (United States) 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. ISSN 0085-2538. PMID 14531806. 
4. ^ ^{a b} Gentzsch, Martina; Cui Liying, Mengos April, Chang Xiu-Bao, Chen Jey-Hsin, Riordan John R (Feb. 2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. (United States) 278 (8): 6440–9. doi:10.1074/jbc.M211050200. ISSN 0021-9258. PMID 12471024. 
5. ^ Pribanic, Sandra; Gisler Serge Mike, Bacic Desa, Madjdpour Caveh, Hernando Nati, Sorribas Victor, Gantenbein Andrea, Biber Jürg, Murer Heini (Oct. 2003). "Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells". Am. J. Physiol. Renal Physiol. (United States) 285 (4): F784–91. doi:10.1152/ajprenal.00109.2003. ISSN 0363-6127. PMID 12837682. 
6. ^ Silver, David L; Wang Nan, Vogel Silke (Aug. 2003). "Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels". J. Biol. Chem. (United States) 278 (31): 28528–32. doi:10.1074/jbc.M304109200. ISSN 0021-9258. PMID 12754212. 
7. ^ Wang, S; Yue H, Derin R B, Guggino W B, Li M (Sep. 2000). "Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity". Cell (UNITED STATES) 103 (1): 169–79. doi:10.1016/S0092-8674(00)00096-9. ISSN 0092-8674. PMID 11051556. 
8. ^ Klopocki E, Schulze H, Strauss G et al. (February 2007). "Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome". Am. J. Hum. Genet. 80 (2): 232–40. doi:10.1086/510919. PMC 1785342. PMID 17236129. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1785342. 

Further reading

• White KE, Biber J, Murer H, Econs MJ (1999). "A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21". Ann. Hum. Genet. 62 (Pt 4): 287–90. doi:10.1046/j.1469-1809.1998.6240287.x. PMID 9924606. 
• Kocher O, Comella N, Gilchrist A et al. (1999). "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". Lab. Invest. 79 (9): 1161–70. PMID 10496535. 
• Ikemoto M, Arai H, Feng D et al. (2000). "Identification of a PDZ-domain-containing protein that interacts with the scavenger receptor class B type I". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6538–43. doi:10.1073/pnas.100114397. PMC 18651. PMID 10829064. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=18651. 
• Wang S, Yue H, Derin RB et al. (2000). "Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity". Cell 103 (1): 169–79. doi:10.1016/S0092-8674(00)00096-9. PMID 11051556. 
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310948. 
• Gisler SM, Stagljar I, Traebert M et al. (2001). "Interaction of the type IIa Na/Pi cotransporter with PDZ proteins". J. Biol. Chem. 276 (12): 9206–13. doi:10.1074/jbc.M008745200. PMID 11099500. 
• Silver DL (2002). "A carboxyl-terminal PDZ-interacting domain of scavenger receptor B, type I is essential for cell surface expression in liver". J. Biol. Chem. 277 (37): 34042–7. doi:10.1074/jbc.M206584200. PMID 12119305. 
• Sellin L, Huber TB, Gerke P et al. (2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB J. 17 (1): 115–7. doi:10.1096/fj.02-0242fje. PMID 12424224. 
• Gentzsch M, Cui L, Mengos A et al. (2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Hegedüs T, Sessler T, Scott R et al. (2003). "C-terminal phosphorylation of MRP2 modulates its interaction with PDZ proteins". Biochem. Biophys. Res. Commun. 302 (3): 454–61. doi:10.1016/S0006-291X(03)00196-7. PMID 12615054. 
• Silver DL, Wang N, Vogel S (2003). "Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels". J. Biol. Chem. 278 (31): 28528–32. doi:10.1074/jbc.M304109200. PMID 12754212. 
• Pribanic S, Gisler SM, Bacic D et al. (2003). "Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells". Am. J. Physiol. Renal Physiol. 285 (4): F784–91. doi:10.1152/ajprenal.00109.2003. PMID 12837682. 
• Gisler SM, Pribanic S, Bacic D et al. (2004). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806. 
• Kocher O, Yesilaltay A, Cirovic C et al. (2004). "Targeted disruption of the PDZK1 gene in mice causes tissue-specific depletion of the high density lipoprotein receptor scavenger receptor class B type I and altered lipoprotein metabolism". J. Biol. Chem. 278 (52): 52820–5. doi:10.1074/jbc.M310482200. PMID 14551195. 
• Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Inoue J, Otsuki T, Hirasawa A et al. (2004). "Overexpression of PDZK1 within the 1q12-q22 Amplicon Is Likely To Be Associated with Drug-Resistance Phenotype in Multiple Myeloma". Am. J. Pathol. 165 (1): 71–81. doi:10.1016/S0002-9440(10)63276-2. PMC 1618545. PMID 15215163. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1618545. 
• Anzai N, Miyazaki H, Noshiro R et al. (2004). "The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus". J. Biol. Chem. 279 (44): 45942–50. doi:10.1074/jbc.M406724200. PMID 15304510. 
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 

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