Q8VIM4 (BSND_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Barttin

Gene names

Name:

Bsnd

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	307 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	Interacts with CLCNK channels. Forms probably heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments. Ref.6
Subcellular location	Basolateral cell membrane; Multi-pass membrane protein. Note: Staining in membranes of the renal tubule is basolateral. Also detected in basolateral membranes of intercalated cells of the collecting duct, which are known to express CLCNKB as well. Both acid-secreting alpha-intercalated cells and base-secreting beta-intercalated cells express this protein basolaterally, but intervening AQP2-expressing principal cells appear devoid of protein expression. In the inner ear, colocalizes with CLCNK in K+-secreting marginal cells of the stria vascularis. The basolateral staining contrasts with the apical localization of the KCNQ1 K+ channel. Also found in K+-secreting vestibular dark cells, where it colocalized in basolateral membranes with CLCNK below apical membranes that expressed KCNQ1. Ref.6
Tissue specificity	Expression is evident in inner and outer stripes of the outer medulla of the kidney, most probably representing thin limbs of Henle's loop together with some collecting duct coursing through the outer stripe. In situ hybridization in fetal kidney at 18.5 dpc revealed a clear continuity between hybridization signals from the thin limb of Henle's loop and the distal convoluted tubule, suggesting that part of the expression pattern may result from expression in the thick ascending limb of Henle's loop. In addition, strong signals are present in a subset of cortical tubules, representing distal convoluted tubules or cortical collecting duct. Strong expression is also observed in the inner medulla of the kidney. This expression does not extend all the way to the tip of the papilla. Thus this signal most probably represents cells of the thin ascending limbs. In the inner ear, strong and exclusive expression is detected in marginal cells of the stria vascularis. In addition to cochlear signal, expression is observed in dark cells localized at the base of the crista ampullaris of the vestibular organ. Ref.1 Ref.6

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular chloride ion homeostasis Non-traceable author statement Ref.6. Source: UniProtKB cellular potassium ion homeostasis Non-traceable author statement Ref.6. Source: UniProtKB chloride transport Inferred from electronic annotation. Source: Compara sensory perception of sound Non-traceable author statement Ref.6. Source: UniProtKB
Cellular_component	basolateral plasma membrane Inferred from direct assay Ref.6. Source: UniProtKB integral to plasma membrane Inferred from direct assay Ref.6. Source: UniProtKB protein complex Inferred from direct assay Ref.6. Source: UniProtKB
Molecular_function	chloride channel regulator activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 307	307	Barttin		PRO_0000065000
Regions
	Topological domain	1 – 5	5	Cytoplasmic Potential
	Transmembrane	6 – 26	21	Helical; Potential
	Topological domain	27 – 32	6	Extracellular Potential
	Transmembrane	33 – 53	21	Helical; Potential
	Topological domain	54 – 307	254	Cytoplasmic Potential
Experimental info
	Sequence conflict	83	1	T → A in AAL33907. Ref.1
	Sequence conflict	292	1	N → D in AAQ81629. Ref.2
	Sequence conflict	292	1	N → D in AAH38287. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q8VIM4 [UniParc]. Last modified October 3, 2012. Version 3. Checksum: BB837B92EC39F2CF	FASTA	307	33,813
	10 20 30 40 50 60 MADEKTFRIG FIVLGLFLLS LGTFLMSHDR PQVYGTFYAM GSVMVIGGVI WSMCQCYPKI 70 80 90 100 110 120 TFVPADSDFQ GILSPKALSL LETGLSEVKS PQPPYVRLWE EAAYDQSLPD FTHIQMKVMG 130 140 150 160 170 180 YSEDPRPLLA PELKTGASSV REGEPRTAQA WMEAPVVVHR GSDENEGEKS HSQSSPSVGP 190 200 210 220 230 240 QGSAPLASFH DDLDVGSSEG SSLQPSPNRD EPHRQVPWAS RGPLDRFSDF ALIDDTPTSE 250 260 270 280 290 300 DTVLDGQARE AALPRKQQWS LRMKGETVQA RAEEPEQEEE DLYYGLPDSP GNPLPDKELG FEPDIQG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure." Birkenhaeger R., Otto E., Schuermann M.J., Vollmer M., Ruf E.-M., Maier-Lutz I., Beekmann F., Fekete A., Omran H., Feldmann D., Milford D.V., Jeck N., Konrad M., Landau D., Knoers N.V.A.M., Antignac C., Sudbrak R., Kispert A., Hildebrandt F. Nat. Genet. 29:310-314(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Strain: C57BL/6.
[2]	"Functional phenotype of inner ear-specific chloride channel ClC-K and its accessory subunit." Nie L., Feng W., Dinglasan J.N., Yamoah E.N. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6. Tissue: Cochlea.
[3]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: C57BL/6J. Tissue: Kidney.
[4]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: FVB/N. Tissue: Kidney.
[6]	"Barttin is a Cl- channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion." Estevez R., Boettger T., Stein V., Birkenhaeger R., Otto E., Hildebrandt F., Jentsch T.J. Nature 414:558-561(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF391088 mRNA. Translation: AAL33907.1. AY373833 mRNA. Translation: AAQ81629.1. AK052587 mRNA. Translation: BAC35049.1. AL954352 Genomic DNA. Translation: CAM15752.1. BC038287 mRNA. Translation: AAH38287.1.
IPI	IPI00312342.
RefSeq	NP_536706.2. NM_080458.2.
UniGene	Mm.135448.
3D structure databases
ProteinModelPortal	Q8VIM4.
ModBase	Search...
PTM databases
PhosphoSite	Q8VIM4.
Proteomic databases
PaxDb	Q8VIM4.
PRIDE	Q8VIM4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000054472; ENSMUSP00000049563; ENSMUSG00000025418.
GeneID	140475.
KEGG	mmu:140475.
Organism-specific databases
CTD	7809.
MGI	MGI:2153465. Bsnd.
Phylogenomic databases
eggNOG	NOG45959.
GeneTree	ENSGT00390000008549.
HOGENOM	HOG000049268.
HOVERGEN	HBG050739.
InParanoid	Q8VIM4.
OMA	DKELGFE.
OrthoDB	EOG4T4CW5.
Gene expression databases
Genevestigator	Q8VIM4.
GermOnline	ENSMUSG00000025418. Mus musculus.
Family and domain databases
ProtoNet	Search...
Other
NextBio	369764.
SOURCE	Search...

Entry information

Entry name

BSND_MOUSE

Accession

Primary (citable) accession number: Q8VIM4
Secondary accession number(s): B1AZI5, Q8C740, Q8CHY0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2004
Last sequence update:	October 3, 2012
Last modified:	May 1, 2013
This is version 64 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program