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Showing Protein Barttin (HMDBP08179)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP08179
Secondary Accession Numbers
  • 13890
Name Barttin
Synonyms Not Available
Gene Name BSND
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Cell membrane
  2. Cytoplasm
  3. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 1p32.1
SNPs BSND
Gene Sequence 
>963 bp
ATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCC
CTCGGTACGTTCCTCATGAGCCATGATCGGCCCCAGGTCTACGGCACCTTCTATGCCATG
GGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATGTGCCAGTGCTACCCCAAGATC
ACCTTCGTCCCTGCTGACTCTGACTTTCAAGGCATCCTCTCCCCAAAGGCCATGGGCCTG
CTGGAGAATGGGCTTGCTGCCGAGATGAAGAGCCCCAGTCCCCAGCCGCCCTATGTAAGG
CTGTGGGAGGAAGCCGCCTATGACCAGAGCCTGCCTGACTTCAGCCACATCCAGATGAAA
GTCATGAGCTACAGTGAGGACCACCGCTCCTTGCTGGCCCCTGAGATGGGGCAGCCGAAG
CTGGGAACCAGTGATGGAGGAGAAGGTGGCCCTGGCGACGTTCAGGCCTGGATGGAGGCT
GCCGTGGTCATCCACAAGGGCTCAGACGAGAGTGAAGGGGAAAGACGCCTAACTCAGAGC
TGGCCCGGCCCCCTGGCCTGTCCCCAGGGCCCTGCCCCCTTGGCTTCCTTCCAAGATGAC
CTGGACATGGACTCCAGTGAAGGCAGCAGCCCCAATGCATCTCCACATGACAGGGAGGAA
GCTTGTTCCCCACAACAGGAACCTCAGGGCTGCAGGTGCCCGCTGGACCGCTTCCAAGAC
TTTGCCCTGATTGATGCCCCAACGTTGGAGGATGAGCCCCAAGAGGGGCAGCAGTGGGAA
ATAGCCCTGCCCAACAACTGGCAGCGGTACCCAAGGACAAAGGTGGAGGAGAAGGAGGCT
TCGGACACAGGTGGGGAGGAACCTGAGAAGGAAGAGGAAGACCTGTACTATGGGCTGCCA
GATGGAGCCGGGGACCTCCTCCCGGACAAGGAGCTGGGTTTTGAGCCTGACACCCAAGGC
TGA
Protein Properties
Number of Residues 320
Molecular Weight 35196.9
Theoretical pI 3.99
Pfam Domain Function Not Available
Signals
  • None
Transmembrane Regions
  • 6-26
  • 33-53
Protein Sequence 
>Barttin
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
DGAGDLLPDKELGFEPDTQG
GenBank ID Protein 16923149
UniProtKB/Swiss-Prot ID Q8WZ55
UniProtKB/Swiss-Prot Entry Name BSND_HUMAN
PDB IDs Not Available
GenBank Gene ID AY034632
GeneCard ID BSND
GenAtlas ID BSND
HGNC ID HGNC:16512
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4. [PubMed:11687798 ]
  3. Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29;414(6863):558-61. [PubMed:11734858 ]
  4. Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW: Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch. 2002 Jun;444(3):411-8. Epub 2002 Apr 9. [PubMed:12111250 ]
  5. Hayama A, Rai T, Sasaki S, Uchida S: Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Histochem Cell Biol. 2003 Jun;119(6):485-93. Epub 2003 May 22. [PubMed:12761627 ]
  6. Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E: Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab. 2003 Feb;88(2):781-6. [PubMed:12574213 ]