LOCUS NP_766297 600 aa linear ROD 12-OCT-2008
DEFINITION otopetrin 1 [Mus musculus].
ACCESSION NP_766297
VERSION NP_766297.2 GI:145208004
DBSOURCE REFSEQ: accession NM_172709.3
KEYWORDS .
SOURCE Mus musculus (house mouse)
ORGANISM Mus musculus
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia;
Sciurognathi; Muroidea; Muridae; Murinae; Mus.
REFERENCE 1 (residues 1 to 600)
AUTHORS Seale,P., Bjork,B., Yang,W., Kajimura,S., Chin,S., Kuang,S.,
Scime,A., Devarakonda,S., Conroe,H.M., Erdjument-Bromage,H.,
Tempst,P., Rudnicki,M.A., Beier,D.R. and Spiegelman,B.M.
TITLE PRDM16 controls a brown fat/skeletal muscle switch
JOURNAL Nature 454 (7207), 961-967 (2008)
PUBMED 18719582
REFERENCE 2 (residues 1 to 600)
AUTHORS Zhao,X., Jones,S.M., Yamoah,E.N. and Lundberg,Y.W.
TITLE Otoconin-90 deletion leads to imbalance but normal hearing: a
comparison with other otoconia mutants
JOURNAL Neuroscience 153 (1), 289-299 (2008)
PUBMED 18355969
REFERENCE 3 (residues 1 to 600)
AUTHORS Besson,V., Nalesso,V., Herpin,A., Bizot,J.C., Messaddeq,N.,
Romand,R., Puech,A., Blanquet,V. and Herault,Y.
TITLE Training and aging modulate the loss-of-balance phenotype observed
in a new ENU-induced allele of Otopetrin1
JOURNAL Biol. Cell 97 (10), 787-798 (2005)
PUBMED 15730345
REFERENCE 4 (residues 1 to 600)
AUTHORS de Caprona,M.D., Beisel,K.W., Nichols,D.H. and Fritzsch,B.
TITLE Partial behavioral compensation is revealed in balance tasked
mutant mice lacking otoconia
JOURNAL Brain Res. Bull. 64 (4), 289-301 (2004)
PUBMED 15561463
REFERENCE 5 (residues 1 to 600)
AUTHORS Jones,S.M., Erway,L.C., Johnson,K.R., Yu,H. and Jones,T.A.
TITLE Gravity receptor function in mice with graded otoconial
deficiencies
JOURNAL Hear. Res. 191 (1-2), 34-40 (2004)
PUBMED 15109702
REMARK Erratum:[Hear Res. 2004 Aug;194(1-2):143]
REFERENCE 6 (residues 1 to 600)
AUTHORS Hurle,B., Ignatova,E., Massironi,S.M., Mashimo,T., Rios,X.,
Thalmann,I., Thalmann,R. and Ornitz,D.M.
TITLE Non-syndromic vestibular disorder with otoconial agenesis in
tilted/mergulhador mice caused by mutations in otopetrin 1
JOURNAL Hum. Mol. Genet. 12 (7), 777-789 (2003)
PUBMED 12651873
REMARK GeneRIF: a non-syndromic vestibular disorder with otoconial
agenesis in tilted/mergulhador mice is caused by mutations in
otopetrin 1
GeneRIF: Otopetrin 1 encodes a multi-transmembrane domain protein
expressed in the developing otocyst. Mouse mutants tilted and
mergulhador carry recessive mutations in Otop1 that result in
otoconial agenesis without causing collateral deafness.
REFERENCE 7 (residues 1 to 600)
AUTHORS Smith,M., Yuan Wang,X., Wolgemuth,D.J. and Murashov,A.K.
TITLE Development of the mouse vestibular system in the absence of
gravity perception
JOURNAL Brain Res. Dev. Brain Res. 140 (1), 133-135 (2003)
PUBMED 12524184
REFERENCE 8 (residues 1 to 600)
AUTHORS Hurle,B., Lane,K., Kenney,J., Tarantino,L.M., Bucan,M.,
Brownstein,B.H. and Ornitz,D.M.
TITLE Physical mapping of the mouse tilted locus identifies an
association between human deafness loci DFNA6/14 and vestibular
system development
JOURNAL Genomics 77 (3), 189-199 (2001)
PUBMED 11597144
REFERENCE 9 (residues 1 to 600)
AUTHORS Ying,H.C., Hurle,B., Wang,Y., Bohne,B.A., Wuerffel,M.K. and
Ornitz,D.M.
TITLE High-resolution mapping of tlt, a mouse mutant lacking otoconia
JOURNAL Mamm. Genome 10 (6), 544-548 (1999)
PUBMED 10341082
REFERENCE 10 (residues 1 to 600)
AUTHORS Ornitz,D.M., Bohne,B.A., Thalmann,I., Harding,G.W. and Thalmann,R.
TITLE Otoconial agenesis in tilted mutant mice
JOURNAL Hear. Res. 122 (1-2), 60-70 (1998)
PUBMED 9714575
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF548337.1, AK040792.1 and EH101457.1.
On Apr 13, 2007 this sequence version replaced gi:27370034.
FEATURES Location/Qualifiers
source 1..600
/organism="Mus musculus"
/strain="C57BL/6"
/db_xref="taxon:10090"
/chromosome="5"
/map="5 24.0 cM"
Protein 1..600
/product="otopetrin 1"
/note="tilted"
/calculated_mol_wt=65624
CDS 1..600
/gene="Otop1"
/gene_synonym="tlt"
/gene_synonym="Otp1"
/gene_synonym="A530025J20Rik"
/coded_by="NM_172709.3:25..1827"
/db_xref="GeneID:21906"
/db_xref="MGI:2388363"
ORIGIN
1 mpggpgapss paassgssra apsgiaacpl sppplargsp qasgprrgas vpqklaetls
61 sqyglnvfva gllfllawav hatgvgksdl lcvltalmll qllwmlwyvg rsymqrrlir
121 pkdthagarw lrgsitlfaf itvvlgclkv ayfigfsecl sategvfpvt havhtllqvy
181 flwghakdii msfktlerfg vihsvftnll lwansvlnes khqlnehker litlgfgnit
241 ivlddhtpqc nctppalcsa lshgiyylyp fnieyqilas tmlyvlwkni grrvdssqhq
301 kmqcrfdgvl vgsvlgltvl aatiavvvvy mihigrsksk sesalimfyl yaitvlllmg
361 aaglvgswiy rvdeksldes knparkldvd llvatgsgsw llswgsilai acaetrppyt
421 wynlpysvlv ivekyvqnif iiesvhlepe gvpedvrtlr vvtvcsseaa alaastlgsq
481 gmaqdgspav ngnlclqqrc gkedqesgwe gatgttrcld flqggmkrrl lrnitaflfl
541 cnislwippa fgcrpeydng leeivfgfep wiivvnlamp fsifyrmhaa aalfevycki
//