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PDZK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EEI, 2EEJ, 2VSP, 3TMH, 4Q2P
Identifiers
Aliases	PDZK1, CAP70, CLAMP, NHERF-3, NHERF3, PDZD1, PDZ domain containing 1
External IDs	OMIM: 603831; MGI: 1928901; HomoloGene: 1964; GeneCards: PDZK1; OMA:PDZK1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q21.1 Start 145,670,852 bp End 145,708,148 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.1 Start 96,736,600 bp End 96,778,242 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum right lobe of liver cerebellar cortex cerebellar hemisphere gallbladder human kidney right hemisphere of cerebellum body of pancreas islet of Langerhans testicle Top expressed in right kidney human kidney proximal tubule efferent ductule yolk sac seminiferous tubule jejunum spermatid primary oocyte ileum More reference expression data BioGPS n/a
Gene ontology Molecular function scavenger receptor binding protein-containing complex binding PDZ domain binding protein binding transporter activity Cellular component membrane raft brush border membrane plasma membrane extracellular exosome apical plasma membrane membrane microvillus membrane Biological process cell population proliferation carnitine transport positive regulation of ion transmembrane transport regulation of anion transport positive regulation of protein targeting to membrane transport positive regulation of ion transmembrane transporter activity positive regulation of cation transmembrane transport xenobiotic detoxification by transmembrane export across the plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5174 59020 Ensembl ENSG00000174827 ENSMUSG00000038298 UniProt Q5T2W1 Q9JIL4 RefSeq (mRNA) NM_001201325 NM_001201326 NM_002614 NM_001146001 NM_021517 NM_001355710 RefSeq (protein) NP_001188254 NP_001188255 NP_002605 NP_001358288 NP_001358290 NP_001139473 NP_067492 NP_001342639 Location (UCSC) Chr 1: 145.67 – 145.71 Mb Chr 3: 96.74 – 96.78 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

Interactions

PDZK1 has been shown to interact with:

• AKAP10,
• CLCN3,
• Cystic fibrosis transmembrane conductance regulator
• FARP2,
• PDZK1IP1,
• SLC22A12,
• SLC22A4,
• SLC34A3,
• SLK, and
• Sodium-hydrogen antiporter 3 regulator 1.

Related gene problems

• TAR syndrome
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome

References

1. ^ GRCh38: Ensembl release 89: ENSG00000174827 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000038298 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: PDZK1 PDZ domain containing 1".
7. ^ 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.
8. ^ 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.
9. 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. S2CID 16697781.
10. 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. S2CID 25450845.
11. 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.
12. 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. Bibcode:2000PNAS...97.6538I. 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. S2CID 16697781.
• 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. S2CID 17732086.
• 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. S2CID 25450845.
• 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.

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