Human Metabolome Database: Showing Protein Barttin (HMDBP08179)

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Identification Biological properties Gene properties Protein properties External links References XML Show 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	Cell membrane Cytoplasm 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
External Links
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	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 ] 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 ] 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 ] 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 ] 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 ] 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 ]