PDZK1

PDZ domain containing 1
Rendering based on PDB 2EEI​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2EEI​, 2EEJ​, 2VSP​, 3TMH​, 4Q2P​
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 • protein complex binding Cellular component • cytoplasm • plasma membrane • apical plasma membrane • brush border membrane • microvillus membrane • membrane raft • extracellular exosome Biological process • transport • cell proliferation • carnitine transport • drug transport • positive regulation of ion transmembrane transport • regulation of anion transport • positive regulation of protein targeting to membrane Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5174	59020
Ensembl	ENSG00000174827	ENSMUSG00000038298
UniProt	Q5T2W1	Q9JIL4
RefSeq (mRNA)	NM_001201325	NM_001146001
RefSeq (protein)	NP_001188254	NP_001139473
Location (UCSC)	Chr 1: 145.67 – 145.71 Mb	Chr 3: 96.83 – 96.87 Mb
PubMed search

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]
• CLCN3,^[4]
• Cystic fibrosis transmembrane conductance regulator^[4][5]
• FARP2,^[3]
• PDZK1IP1,^[3][6][7]
• SLC22A12,^[3]
• SLC22A4,^[3]
• SLC34A3,^[3]
• SLK,^[3] and
• Sodium-hydrogen antiporter 3 regulator 1.^[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 (March 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".
3. Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "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.
4. Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (February 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.
5. Wang S, Yue H, Derin RB, Guggino WB, Li M (September 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.
6. Pribanic S, Gisler SM, Bacic D, Madjdpour C, Hernando N, Sorribas V, Gantenbein A, Biber J, Murer H (October 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.
7. Silver DL, Wang N, Vogel S (August 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.
8. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S (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.

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, Pal R, Tognazzi K, Brown LF, Knoll JH (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, Tanaka K, Aoki J, Dohmae N, Takio K, Adachi H, Tsujimoto M, Inoue K (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.
• Wang S, Yue H, Derin RB, Guggino WB, Li M (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.
• Gisler SM, Stagljar I, Traebert M, Bacic D, Biber J, Murer H (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, Quack I, Pavenstädt H, Walz G (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, Chang XB, Chen JH, Riordan JR (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.
• Hegedüs T, Sessler T, Scott R, Thelin W, Bakos E, Váradi A, Szabó K, Homolya L, Milgram SL, Sarkadi B (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, Madjdpour C, Hernando N, Sorribas V, Gantenbein A, Biber J, Murer H (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, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (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, Pal R, Rigotti A, Krieger M (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.
• Inoue J, Otsuki T, Hirasawa A, Imoto I, Matsuo Y, Shimizu S, Taniwaki M, Inazawa J (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.
• Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin HJ, Enomoto A, Sakamoto S, Hirata T, Tomita K, Kanai Y, Endou H (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.