Pendrin
From Wikipedia, the free encyclopedia
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Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
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| PDB rendering based on 1okc. | ||||||||||||||
| Available structures: 1okc, 2c3e | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | SLC25A4; ANT; ANT1; PEO2; PEO3; T1 | |||||||||||||
| External IDs | OMIM: 103220 MGI: 1353495 HomoloGene: 36058 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 291 | 11739 | ||||||||||||
| Ensembl | ENSG00000151729 | ENSMUSG00000031633 | ||||||||||||
| Uniprot | P12235 | Q8BVI9 | ||||||||||||
| Refseq | NM_001151 (mRNA) NP_001142 (protein) |
XM_134169 (mRNA) XP_134169 (protein) |
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| Location | Chr 4: 186.3 - 186.31 Mb | Chr 8: 47.71 - 47.71 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Pendrin is an ion exchanger found in the cortical collecting duct.[1]
Disorders are associated with Pendred syndrome.
Pendrin is found at the luminal membrane of follicular cells in the thyroid gland. It transports iodine from the cytoplasm to the follicle lumen. Its activity is necessary for production of thyroid hormone.
Pendrin is also found in the cells of the inner ear, where its function is not well understood.
Defects in Pendrin can cause Pendred syndrome, characterized by Hypothyroidism and deafness.
Pendrin is not SLC25A4 but SLC26A4!
[edit] References
- ^ Wall S (2006). "The renal physiology of pendrin (SLC26A4) and its role in hypertension.". Novartis Found Symp 273: 231–9; discussion 239–43, 261–4. PMID 17120771.
[edit] Further reading
- Vieira HL, Haouzi D, El Hamel C, et al. (2001). "Permeabilization of the mitochondrial inner membrane during apoptosis: impact of the adenine nucleotide translocator.". Cell Death Differ. 7 (12): 1146–54. doi:. PMID 11175251.
- Ferri KF, Jacotot E, Blanco J, et al. (2001). "Mitochondrial control of cell death induced by HIV-1-encoded proteins.". Ann. N. Y. Acad. Sci. 926: 149–64. PMID 11193032.
- Kino T, Pavlakis GN (2004). "Partner molecules of accessory protein Vpr of the human immunodeficiency virus type 1.". DNA Cell Biol. 23 (4): 193–205. doi:. PMID 15142377.
- Andersen JL, Planelles V (2005). "The role of Vpr in HIV-1 pathogenesis.". Curr. HIV Res. 3 (1): 43–51. PMID 15638722.
- Le Rouzic E, Benichou S (2006). "The Vpr protein from HIV-1: distinct roles along the viral life cycle.". Retrovirology 2: 11. doi:. PMID 15725353.
- Zhao RY, Bukrinsky M, Elder RT (2005). "HIV-1 viral protein R (Vpr) & host cellular responses.". Indian J. Med. Res. 121 (4): 270–86. PMID 15817944.
- Muthumani K, Choo AY, Premkumar A, et al. (2006). "Human immunodeficiency virus type 1 (HIV-1) Vpr-regulated cell death: insights into mechanism.". Cell Death Differ. 12 Suppl 1: 962–70. doi:. PMID 15832179.
- Li L, Li HS, Pauza CD, et al. (2006). "Roles of HIV-1 auxiliary proteins in viral pathogenesis and host-pathogen interactions.". Cell Res. 15 (11-12): 923–34. doi:. PMID 16354571.
- Moon HS, Yang JS (2006). "Role of HIV Vpr as a regulator of apoptosis and an effector on bystander cells.". Mol. Cells 21 (1): 7–20. PMID 16511342.
- Fan YS, Yang HM, Lin CC (1992). "Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 60 (1): 29–30. PMID 1582253.
- Cozens AL, Runswick MJ, Walker JE (1989). "DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.". J. Mol. Biol. 206 (2): 261–80. PMID 2541251.
- Li K, Warner CK, Hodge JA, et al. (1989). "A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.". J. Biol. Chem. 264 (24): 13998–4004. PMID 2547778.
- Neckelmann N, Li K, Wade RP, et al. (1987). "cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes.". Proc. Natl. Acad. Sci. U.S.A. 84 (21): 7580–4. PMID 2823266.
- Houldsworth J, Attardi G (1988). "Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.". Proc. Natl. Acad. Sci. U.S.A. 85 (2): 377–81. PMID 2829183.
- Wijmenga C, Winokur ST, Padberg GW, et al. (1993). "The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.". Hum. Genet. 92 (2): 198–203. PMID 8103757.
- Bakker HD, Scholte HR, Van den Bogert C, et al. (1993). "Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.". Pediatr. Res. 33 (4 Pt 1): 412–7. PMID 8479824.
- Kaukonen JA, Amati P, Suomalainen A, et al. (1996). "An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.". Am. J. Hum. Genet. 58 (4): 763–9. PMID 8644740.
- Marzo I, Brenner C, Zamzami N, et al. (1998). "Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis.". Science 281 (5385): 2027–31. PMID 9748162.
- Kaukonen J, Zeviani M, Comi GP, et al. (1999). "A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.". Am. J. Hum. Genet. 65 (1): 256–61. PMID 10364542.
- Jacotot E, Ravagnan L, Loeffler M, et al. (2000). "The HIV-1 viral protein R induces apoptosis via a direct effect on the mitochondrial permeability transition pore.". J. Exp. Med. 191 (1): 33–46. PMID 10620603.
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