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Q8VIM4 (BSND_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Barttin
Gene names
Name:Bsnd
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length307 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 307307Barttin
PRO_0000065000

Regions

Topological domain1 – 55Cytoplasmic Potential
Transmembrane6 – 2621Helical; Potential
Topological domain27 – 326Extracellular Potential
Transmembrane33 – 5321Helical; Potential
Topological domain54 – 307254Cytoplasmic Potential

Experimental info

Sequence conflict831T → A in AAL33907. Ref.1
Sequence conflict2921N → D in AAQ81629. Ref.2
Sequence conflict2921N → D in AAH38287. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8VIM4 [UniParc].

Last modified October 3, 2012. Version 3.
Checksum: BB837B92EC39F2CF

FASTA30733,813
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS18419.1.
RefSeqNP_536706.2. NM_080458.2.
UniGeneMm.135448.

3D structure databases

ProteinModelPortalQ8VIM4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8VIM4. 1 interaction.
MINTMINT-4089408.

PTM databases

PhosphoSiteQ8VIM4.

Proteomic databases

MaxQBQ8VIM4.
PaxDbQ8VIM4.
PRIDEQ8VIM4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000054472; ENSMUSP00000049563; ENSMUSG00000025418.
GeneID140475.
KEGGmmu:140475.
UCSCuc008tyj.1. mouse.

Organism-specific databases

CTD7809.
MGIMGI:2153465. Bsnd.

Phylogenomic databases

eggNOGNOG45959.
GeneTreeENSGT00390000008549.
HOGENOMHOG000049268.
HOVERGENHBG050739.
InParanoidQ8VIM4.
OMACYPKITF.
OrthoDBEOG7BS4BK.
TreeFamTF335975.

Gene expression databases

GenevestigatorQ8VIM4.

Family and domain databases

InterProIPR029181. Barttin_dom.
[Graphical view]
PfamPF15462. Barttin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio369764.
PROQ8VIM4.
SOURCESearch...

Entry information

Entry nameBSND_MOUSE
AccessionPrimary (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: July 9, 2014
This is version 74 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot