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Tetraspan membrane protein of hair cell stereocilia (Lipoma HMGIC fusion partner-like 5 protein)

 TMHS_MOUSE              Reviewed;         219 AA.
Q4KL25; B2KF30;
01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
02-AUG-2005, sequence version 1.
07-JUN-2017, entry version 78.
RecName: Full=Tetraspan membrane protein of hair cell stereocilia;
AltName: Full=Lipoma HMGIC fusion partner-like 5 protein;
Name=Lhfpl5; Synonyms=Tmhs;
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 [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
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.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Thyroid;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=16459341; DOI=10.1136/jmg.2005.039834;
Shabbir M.I., Ahmed Z.M., Khan S.Y., Riazuddin S., Waryah A.M.,
Khan S.N., Camps R.D., Ghosh M., Kabra M., Belyantseva I.A.,
Friedman T.B., Riazuddin S.;
"Mutations of human TMHS cause recessively inherited non-syndromic
hearing loss.";
J. Med. Genet. 43:634-640(2006).
[4]
FUNCTION, INTERACTION WITH PCDH15, SUBCELLULAR LOCATION, TOPOLOGY,
TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=23217710; DOI=10.1016/j.cell.2012.10.041;
Xiong W., Grillet N., Elledge H.M., Wagner T.F., Zhao B.,
Johnson K.R., Kazmierczak P., Muller U.;
"TMHS is an integral component of the mechanotransduction machinery of
cochlear hair cells.";
Cell 151:1283-1295(2012).
[5]
IDENTIFICATION IN A COMPLEX WITH TMIE AND PCDH15.
PubMed=25467981; DOI=10.1016/j.neuron.2014.10.041;
Zhao B., Wu Z., Grillet N., Yan L., Xiong W., Harkins-Perry S.,
Mueller U.;
"TMIE is an essential component of the mechanotransduction machinery
of cochlear hair cells.";
Neuron 84:954-967(2014).
[6]
VARIANT HSCY PHE-161, FUNCTION, AND TISSUE SPECIFICITY.
PubMed=15905332; DOI=10.1073/pnas.0500760102;
Longo-Guess C.M., Gagnon L.H., Cook S.A., Wu J., Zheng Q.Y.,
Johnson K.R.;
"A missense mutation in the previously undescribed gene Tmhs underlies
deafness in hurry-scurry (hscy) mice.";
Proc. Natl. Acad. Sci. U.S.A. 102:7894-7899(2005).
-!- FUNCTION: In the inner ear, may be a component of the hair cell's
mechanotransduction machinery that functionally couples PCDH15 to
the transduction channel. Regulates transducer channel conductance
and is required for fast channel adaptation.
{ECO:0000269|PubMed:15905332, ECO:0000269|PubMed:23217710}.
-!- SUBUNIT: Found in a complex with TMIE and PCDH15
(PubMed:25467981). Interacts with PCDH15; this interaction is
required for efficient localization to hair bundles
(PubMed:23217710). {ECO:0000269|PubMed:23217710,
ECO:0000269|PubMed:25467981}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23217710};
Multi-pass membrane protein {ECO:0000269|PubMed:23217710}.
Note=Efficient localization to the plasma membrane requires the
presence of PCDH15.
-!- TISSUE SPECIFICITY: Brain, inner ear hair cells and vestibular
neuroepithelia of the inner ear. In inner ear, expressed in
stereocilia in a punctate pattern and at the tip-link region (at
protein level). {ECO:0000269|PubMed:15905332,
ECO:0000269|PubMed:16459341, ECO:0000269|PubMed:23217710}.
-!- DEVELOPMENTAL STAGE: Expressed in inner ear hair cells at 16.5
dpc. Expressed postnatally in inner and outer hair cells of the
cochlear, as well as in vestibular hair cells. At the cochlear
apex, levels are low at P1 and increased thereafter. After P7,
hardly detectable at the protein level, while mRNA levels remains
high in adult hair cells. {ECO:0000269|PubMed:16459341,
ECO:0000269|PubMed:23217710}.
-!- DISEASE: Note=Defects in Lhfpl5 are the cause of the hurry-scurry
(hscy) phenotype which is characterized by rapid circling
behavior, frequent shaking of head from side to side, deafness and
vestibular dysfunction.
-!- SIMILARITY: Belongs to the LHFP family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; CT009661; CAQ52029.1; -; Genomic_DNA.
EMBL; BC099483; AAH99483.1; -; mRNA.
CCDS; CCDS37530.1; -.
RefSeq; NP_080847.2; NM_026571.2.
UniGene; Mm.284760; -.
ProteinModelPortal; Q4KL25; -.
IntAct; Q4KL25; 1.
STRING; 10090.ENSMUSP00000079598; -.
PaxDb; Q4KL25; -.
PRIDE; Q4KL25; -.
Ensembl; ENSMUST00000080780; ENSMUSP00000079598; ENSMUSG00000062252.
GeneID; 328789; -.
KEGG; mmu:328789; -.
UCSC; uc008brg.2; mouse.
CTD; 222662; -.
MGI; MGI:1915382; Lhfpl5.
eggNOG; KOG4026; Eukaryota.
eggNOG; ENOG410XSUB; LUCA.
GeneTree; ENSGT00550000074479; -.
HOVERGEN; HBG056723; -.
InParanoid; Q4KL25; -.
OMA; YWIGDSI; -.
OrthoDB; EOG091G0H85; -.
PhylomeDB; Q4KL25; -.
TreeFam; TF321143; -.
PRO; PR:Q4KL25; -.
Proteomes; UP000000589; Chromosome 17.
Bgee; ENSMUSG00000062252; -.
Genevisible; Q4KL25; MM.
GO; GO:0016324; C:apical plasma membrane; IDA:MGI.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IDA:MGI.
GO; GO:0032421; C:stereocilium bundle; IDA:MGI.
GO; GO:0032426; C:stereocilium tip; IDA:MGI.
GO; GO:0060088; P:auditory receptor cell stereocilium organization; IMP:MGI.
GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; IMP:MGI.
GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
InterPro; IPR019372; Lipome_HGMIC_fus_partner-like.
Pfam; PF10242; L_HMGIC_fpl; 1.
1: Evidence at protein level;
Cell membrane; Complete proteome; Disease mutation; Ion transport;
Membrane; Reference proteome; Transmembrane; Transmembrane helix;
Transport.
CHAIN 1 219 Tetraspan membrane protein of hair cell
stereocilia.
/FTId=PRO_0000285923.
TOPO_DOM 1 24 Cytoplasmic. {ECO:0000255}.
TRANSMEM 25 45 Helical. {ECO:0000255}.
TOPO_DOM 46 98 Extracellular. {ECO:0000255}.
TRANSMEM 99 119 Helical. {ECO:0000255}.
TOPO_DOM 120 128 Cytoplasmic. {ECO:0000255}.
TRANSMEM 129 149 Helical. {ECO:0000255}.
TOPO_DOM 150 178 Extracellular. {ECO:0000255}.
TRANSMEM 179 199 Helical. {ECO:0000255}.
TOPO_DOM 200 219 Cytoplasmic. {ECO:0000255}.
VARIANT 161 161 C -> F (in hscy).
{ECO:0000269|PubMed:15905332}.
SEQUENCE 219 AA; 24186 MW; 9BFC49260AE9DD02 CRC64;
MVKLLPAQEA AKIYHTNYVR NSRAVGVMWG TLTICFSVLV MALFIQPYWI GDSVSTPQAG
YFGLFSYCVG NVLSSELICK GGPLDFSSIP SRAFKTAMFF VALAMFLIIG SIICFSLFFV
CNTATVYKIC AWMQLAAATG LMIGCLVYPD GWDSSEVRRM CGEQTGKYTL GHCTIRWAFM
LAILSIGDAL ILSFLAFVLG YRQDKLLPDD YKADGNEEV


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