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Transmembrane inner ear expressed protein

 TMIE_MOUSE              Reviewed;         153 AA.
Q8K467;
29-MAR-2005, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
10-MAY-2017, entry version 91.
RecName: Full=Transmembrane inner ear expressed protein;
Flags: Precursor;
Name=Tmie;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND INVOLVEMENT IN
SPINNER MUTANT STRAIN PHENOTYPE.
STRAIN=C57BL/6J;
PubMed=12140191; DOI=10.1093/hmg/11.16.1887;
Mitchem K.L., Hibbard E., Beyer L.A., Bosom K., Dootz G.A.,
Dolan D.F., Johnson K.R., Raphael Y., Kohrman D.C.;
"Mutation of the novel gene Tmie results in sensory cell defects in
the inner ear of spinner, a mouse model of human hearing loss DFNB6.";
Hum. Mol. Genet. 11:1887-1898(2002).
-!- FUNCTION: Unknown. The protein may play some role in a cellular
membrane location. May reside within an internal membrane
compartment and function in pathways such as those involved in
protein and/or vesicle trafficking. Alternatively, the mature
protein may be localized in the plasma membrane and serve as a
site of interaction for other molecules through its highly charged
C-terminal domain.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
membrane protein {ECO:0000305}.
-!- TISSUE SPECIFICITY: Expressed in brain, kidney, liver, lung and
cochlea. {ECO:0000269|PubMed:12140191}.
-!- DEVELOPMENTAL STAGE: Required for normal postnatal maturation of
sensory hair cells in the cochlea, including correct development
of stereocilia bundles.
-!- DISEASE: Note=Defects in Tmie are the cause of the spinner mutant
strain phenotype (sr). This disorder results in hearing loss and
vestibular dysfunction due to neuroepithelial defects in the inner
ear. It is recognized by behavioral dysfunction, including
bidirectional circling and head shaking. Auditory function in
spinner mice is found to be reduced, based upon the lack of a
startle reflex to sound at any age. Breeding experiments indicated
that these defects are inherited in an autosomal recessive
fashion. The postnatal defects present in the cochleae of sr/sr
mice suggest a requirement for Tmie during maturation of sensory
cells, including the normal development or maintenance of
stereocilia bundles. {ECO:0000269|PubMed:12140191}.
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EMBL; AF481143; AAM89222.1; -; mRNA.
CCDS; CCDS23578.1; -.
RefSeq; NP_666372.1; NM_146260.2.
RefSeq; XP_006512070.1; XM_006512007.3.
RefSeq; XP_006512071.1; XM_006512008.3.
RefSeq; XP_006512072.1; XM_006512009.3.
RefSeq; XP_006512073.1; XM_006512010.3.
RefSeq; XP_006512076.1; XM_006512013.3.
RefSeq; XP_011241246.1; XM_011242944.2.
RefSeq; XP_011241247.1; XM_011242945.2.
UniGene; Mm.390229; -.
ProteinModelPortal; Q8K467; -.
STRING; 10090.ENSMUSP00000060148; -.
TCDB; 9.A.30.1.1; the putative tmie gentamiein uptake mechanosensitive channel (tmie) family.
iPTMnet; Q8K467; -.
PhosphoSitePlus; Q8K467; -.
PaxDb; Q8K467; -.
PRIDE; Q8K467; -.
Ensembl; ENSMUST00000050958; ENSMUSP00000060148; ENSMUSG00000049555.
GeneID; 20776; -.
KEGG; mmu:20776; -.
UCSC; uc009rvb.1; mouse.
CTD; 259236; -.
MGI; MGI:2159400; Tmie.
eggNOG; ENOG410IYQZ; Eukaryota.
eggNOG; ENOG4111RFP; LUCA.
GeneTree; ENSGT00390000005082; -.
HOGENOM; HOG000060175; -.
HOVERGEN; HBG079268; -.
InParanoid; Q8K467; -.
OMA; CCIFNCR; -.
OrthoDB; EOG091G188E; -.
PhylomeDB; Q8K467; -.
TreeFam; TF332314; -.
PRO; PR:Q8K467; -.
Proteomes; UP000000589; Chromosome 9.
Bgee; ENSMUSG00000049555; -.
CleanEx; MM_TMIE; -.
ExpressionAtlas; Q8K467; baseline and differential.
Genevisible; Q8K467; MM.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0042472; P:inner ear morphogenesis; IMP:MGI.
GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
InterPro; IPR032006; TMIE.
Pfam; PF16038; TMIE; 1.
2: Evidence at transcript level;
Complete proteome; Deafness; Membrane; Reference proteome; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 28 {ECO:0000255}.
CHAIN 29 153 Transmembrane inner ear expressed
protein.
/FTId=PRO_0000022556.
TOPO_DOM 29 58 Extracellular. {ECO:0000255}.
TRANSMEM 59 79 Helical. {ECO:0000255}.
TOPO_DOM 80 153 Cytoplasmic. {ECO:0000255}.
COMPBIAS 124 153 Lys-rich.
SEQUENCE 153 AA; 17027 MW; 2B22474B275CBBD8 CRC64;
MAGRQHGSGR LWALGGAALG ACLAGVATQL VEPSTAPPKP KPPPLTKETV VFWDMRLWHV
VGIFSLFVLS IIITLCCVFN CRVPRTRKEI EARYLQRKAA KMYTDKLETV PPLNELTEIP
GEDKKKKKKD SVDTVAIKVE EDEKNEAKKK GEK


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