TMIE_MOUSE
ID TMIE_MOUSE Reviewed; 153 AA.
AC Q8K467;
DT 29-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Transmembrane inner ear expressed protein;
DE Flags: Precursor;
GN Name=Tmie;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND INVOLVEMENT IN SPINNER
RP MUTANT STRAIN PHENOTYPE.
RC STRAIN=C57BL/6J;
RX PubMed=12140191; DOI=10.1093/hmg/11.16.1887;
RA Mitchem K.L., Hibbard E., Beyer L.A., Bosom K., Dootz G.A., Dolan D.F.,
RA Johnson K.R., Raphael Y., Kohrman D.C.;
RT "Mutation of the novel gene Tmie results in sensory cell defects in the
RT inner ear of spinner, a mouse model of human hearing loss DFNB6.";
RL Hum. Mol. Genet. 11:1887-1898(2002).
RN [2]
RP INTERACTION WITH TOMT.
RX PubMed=28504928; DOI=10.7554/elife.24318;
RA Cunningham C.L., Wu Z., Jafari A., Zhao B., Schrode K., Harkins-Perry S.,
RA Lauer A., Mueller U.;
RT "The murine catecholamine methyltransferase mTOMT is essential for
RT mechanotransduction by cochlear hair cells.";
RL Elife 6:0-0(2017).
CC -!- FUNCTION: Unknown. The protein may play some role in a cellular
CC membrane location. May reside within an internal membrane compartment
CC and function in pathways such as those involved in protein and/or
CC vesicle trafficking. Alternatively, the mature protein may be localized
CC in the plasma membrane and serve as a site of interaction for other
CC molecules through its highly charged C-terminal domain.
CC -!- SUBUNIT: Interacts with TOMT. {ECO:0000269|PubMed:28504928}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in brain, kidney, liver, lung and
CC cochlea. {ECO:0000269|PubMed:12140191}.
CC -!- DEVELOPMENTAL STAGE: Required for normal postnatal maturation of
CC sensory hair cells in the cochlea, including correct development of
CC stereocilia bundles.
CC -!- DISEASE: Note=Defects in Tmie are the cause of the spinner mutant
CC strain phenotype (sr). This disorder results in hearing loss and
CC vestibular dysfunction due to neuroepithelial defects in the inner ear.
CC It is recognized by behavioral dysfunction, including bidirectional
CC circling and head shaking. Auditory function in spinner mice is found
CC to be reduced, based upon the lack of a startle reflex to sound at any
CC age. Breeding experiments indicated that these defects are inherited in
CC an autosomal recessive fashion. The postnatal defects present in the
CC cochleae of sr/sr mice suggest a requirement for Tmie during maturation
CC of sensory cells, including the normal development or maintenance of
CC stereocilia bundles. {ECO:0000269|PubMed:12140191}.
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DR EMBL; AF481143; AAM89222.1; -; mRNA.
DR CCDS; CCDS23578.1; -.
DR RefSeq; NP_666372.1; NM_146260.2.
DR RefSeq; XP_006512070.1; XM_006512007.3.
DR RefSeq; XP_006512071.1; XM_006512008.3.
DR RefSeq; XP_006512072.1; XM_006512009.3.
DR RefSeq; XP_006512073.1; XM_006512010.3.
DR RefSeq; XP_006512076.1; XM_006512013.3.
DR RefSeq; XP_011241246.1; XM_011242944.2.
DR RefSeq; XP_011241247.1; XM_011242945.2.
DR AlphaFoldDB; Q8K467; -.
DR SMR; Q8K467; -.
DR STRING; 10090.ENSMUSP00000060148; -.
DR TCDB; 8.A.116.1.1; the transmembrane inner ear (tmie) family.
DR iPTMnet; Q8K467; -.
DR PhosphoSitePlus; Q8K467; -.
DR PaxDb; Q8K467; -.
DR PRIDE; Q8K467; -.
DR ProteomicsDB; 259254; -.
DR Antibodypedia; 29762; 78 antibodies from 19 providers.
DR DNASU; 20776; -.
DR Ensembl; ENSMUST00000050958; ENSMUSP00000060148; ENSMUSG00000049555.
DR GeneID; 20776; -.
DR KEGG; mmu:20776; -.
DR UCSC; uc009rvb.1; mouse.
DR CTD; 259236; -.
DR MGI; MGI:2159400; Tmie.
DR VEuPathDB; HostDB:ENSMUSG00000049555; -.
DR eggNOG; ENOG502RY3K; Eukaryota.
DR GeneTree; ENSGT00390000005082; -.
DR HOGENOM; CLU_106776_1_0_1; -.
DR InParanoid; Q8K467; -.
DR OMA; CCIFNCR; -.
DR OrthoDB; 1622008at2759; -.
DR PhylomeDB; Q8K467; -.
DR TreeFam; TF332314; -.
DR BioGRID-ORCS; 20776; 2 hits in 71 CRISPR screens.
DR PRO; PR:Q8K467; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q8K467; protein.
DR Bgee; ENSMUSG00000049555; Expressed in otolith organ and 121 other tissues.
DR ExpressionAtlas; Q8K467; baseline and differential.
DR Genevisible; Q8K467; MM.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0042472; P:inner ear morphogenesis; IMP:MGI.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR InterPro; IPR032006; TMIE.
DR PANTHER; PTHR28635; PTHR28635; 1.
DR Pfam; PF16038; TMIE; 1.
PE 1: Evidence at protein level;
KW Deafness; Membrane; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..153
FT /note="Transmembrane inner ear expressed protein"
FT /id="PRO_0000022556"
FT TOPO_DOM 29..58
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 59..79
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 80..153
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
SQ SEQUENCE 153 AA; 17027 MW; 2B22474B275CBBD8 CRC64;
MAGRQHGSGR LWALGGAALG ACLAGVATQL VEPSTAPPKP KPPPLTKETV VFWDMRLWHV
VGIFSLFVLS IIITLCCVFN CRVPRTRKEI EARYLQRKAA KMYTDKLETV PPLNELTEIP
GEDKKKKKKD SVDTVAIKVE EDEKNEAKKK GEK
