LHPL5_HUMAN
ID LHPL5_HUMAN Reviewed; 219 AA.
AC Q8TAF8; B3KX66;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=LHFPL tetraspan subfamily member 5 protein {ECO:0000312|HGNC:HGNC:21253};
DE AltName: Full=Lipoma HMGIC fusion partner-like 5 protein {ECO:0000312|HGNC:HGNC:21253};
DE AltName: Full=Tetraspan membrane protein of hair cell stereocilia {ECO:0000250|UniProtKB:Q4KL25};
GN Name=LHFPL5 {ECO:0000312|HGNC:HGNC:21253};
GN Synonyms=TMHS {ECO:0000250|UniProtKB:Q4KL25};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANTS DFNB67 MET-165 AND LEU-176.
RX PubMed=16752389; DOI=10.1002/humu.20368;
RA Kalay E., Li Y., Uzumcu A., Uyguner O., Collin R.W., Caylan R.,
RA Ulubil-Emiroglu M., Kersten F.F.J., Hafiz G., van Wijk E., Kayserili H.,
RA Rohmann E., Wagenstaller J., Hoefsloot L.H., Strom T.M., Nuernberg G.,
RA Baserer N., den Hollander A.I., Cremers F.P.M., Cremers C.W.R.J.,
RA Becker C., Brunner H.G., Nuernberg P., Karaguzel A., Basaran S.,
RA Kubisch C., Kremer H., Wollnik B.;
RT "Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause
RT autosomal recessive nonsyndromic hearing loss.";
RL Hum. Mutat. 27:633-639(2006).
RN [5]
RP VARIANT DFNB67 CYS-127.
RX PubMed=16459341; DOI=10.1136/jmg.2005.039834;
RA Shabbir M.I., Ahmed Z.M., Khan S.Y., Riazuddin S., Waryah A.M., Khan S.N.,
RA Camps R.D., Ghosh M., Kabra M., Belyantseva I.A., Friedman T.B.,
RA Riazuddin S.;
RT "Mutations of human TMHS cause recessively inherited non-syndromic hearing
RT loss.";
RL J. Med. Genet. 43:634-640(2006).
RN [6]
RP VARIANT DFNB67 TRP-158.
RX PubMed=26437881; DOI=10.1002/ajmg.a.37421;
RA Komara M., John A., Suleiman J., Ali B.R., Al-Gazali L.;
RT "Clinical and molecular delineation of dysequilibrium syndrome type 2 and
RT profound sensorineural hearing loss in an inbred Arab family.";
RL Am. J. Med. Genet. A 170A:540-543(2016).
RN [7]
RP INVOLVEMENT IN DFNB67.
RX PubMed=28281779; DOI=10.1089/gtmb.2016.0328;
RA Wang R., Han S., Khan A., Zhang X.;
RT "Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or
RT Syndromic Hearing Loss.";
RL Genet. Test. Mol. Biomarkers 21:316-321(2017).
CC -!- FUNCTION: In the inner ear, may be a component of the hair cell's
CC mechanotransduction machinery that functionally couples PCDH15 to the
CC transduction channel. Regulates transducer channel conductance and is
CC required for fast channel adaptation (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Found in a complex with TMIE and PCDH15. Interacts with
CC PCDH15; this interaction is required for efficient localization to hair
CC bundles. Interacts with TOMT. {ECO:0000250|UniProtKB:Q4KL25}.
CC -!- INTERACTION:
CC Q8TAF8; Q86Y34: ADGRG3; NbExp=3; IntAct=EBI-2820517, EBI-17979264;
CC Q8TAF8; O95236-2: APOL3; NbExp=3; IntAct=EBI-2820517, EBI-11976321;
CC Q8TAF8; P41181: AQP2; NbExp=3; IntAct=EBI-2820517, EBI-12701138;
CC Q8TAF8; Q13520: AQP6; NbExp=3; IntAct=EBI-2820517, EBI-13059134;
CC Q8TAF8; O43315: AQP9; NbExp=3; IntAct=EBI-2820517, EBI-17444777;
CC Q8TAF8; Q8WVV5: BTN2A2; NbExp=3; IntAct=EBI-2820517, EBI-8648738;
CC Q8TAF8; Q6UWT4: C5orf46; NbExp=3; IntAct=EBI-2820517, EBI-11986083;
CC Q8TAF8; P11049: CD37; NbExp=3; IntAct=EBI-2820517, EBI-6139068;
CC Q8TAF8; P19397: CD53; NbExp=3; IntAct=EBI-2820517, EBI-6657396;
CC Q8TAF8; P21854: CD72; NbExp=3; IntAct=EBI-2820517, EBI-307924;
CC Q8TAF8; P11912: CD79A; NbExp=3; IntAct=EBI-2820517, EBI-7797864;
CC Q8TAF8; P60033: CD81; NbExp=3; IntAct=EBI-2820517, EBI-712921;
CC Q8TAF8; O95674: CDS2; NbExp=3; IntAct=EBI-2820517, EBI-3913685;
CC Q8TAF8; Q9HA82: CERS4; NbExp=3; IntAct=EBI-2820517, EBI-2622997;
CC Q8TAF8; P51798: CLCN7; NbExp=3; IntAct=EBI-2820517, EBI-4402346;
CC Q8TAF8; Q8N7P3: CLDN22; NbExp=3; IntAct=EBI-2820517, EBI-17766761;
CC Q8TAF8; O00501: CLDN5; NbExp=3; IntAct=EBI-2820517, EBI-18400628;
CC Q8TAF8; Q8NHS1: CLDND2; NbExp=3; IntAct=EBI-2820517, EBI-11959453;
CC Q8TAF8; Q86T13: CLEC14A; NbExp=3; IntAct=EBI-2820517, EBI-17710733;
CC Q8TAF8; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-2820517, EBI-2807956;
CC Q8TAF8; O43889-2: CREB3; NbExp=4; IntAct=EBI-2820517, EBI-625022;
CC Q8TAF8; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-2820517, EBI-6942903;
CC Q8TAF8; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-2820517, EBI-12019274;
CC Q8TAF8; P49447: CYB561; NbExp=3; IntAct=EBI-2820517, EBI-8646596;
CC Q8TAF8; Q9Y4D2: DAGLA; NbExp=3; IntAct=EBI-2820517, EBI-12808806;
CC Q8TAF8; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-2820517, EBI-18535450;
CC Q8TAF8; P54849: EMP1; NbExp=3; IntAct=EBI-2820517, EBI-4319440;
CC Q8TAF8; P54852: EMP3; NbExp=3; IntAct=EBI-2820517, EBI-3907816;
CC Q8TAF8; O75355-2: ENTPD3; NbExp=3; IntAct=EBI-2820517, EBI-12279764;
CC Q8TAF8; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-2820517, EBI-711490;
CC Q8TAF8; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-2820517, EBI-781551;
CC Q8TAF8; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-2820517, EBI-18304435;
CC Q8TAF8; P12314: FCGR1A; NbExp=3; IntAct=EBI-2820517, EBI-2869867;
CC Q8TAF8; O15552: FFAR2; NbExp=3; IntAct=EBI-2820517, EBI-2833872;
CC Q8TAF8; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-2820517, EBI-12142257;
CC Q8TAF8; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-2820517, EBI-713304;
CC Q8TAF8; Q9UJ14: GGT7; NbExp=11; IntAct=EBI-2820517, EBI-1058791;
CC Q8TAF8; P48165: GJA8; NbExp=3; IntAct=EBI-2820517, EBI-17458373;
CC Q8TAF8; P29033: GJB2; NbExp=3; IntAct=EBI-2820517, EBI-3905204;
CC Q8TAF8; O75712: GJB3; NbExp=3; IntAct=EBI-2820517, EBI-3908586;
CC Q8TAF8; Q9NTQ9: GJB4; NbExp=3; IntAct=EBI-2820517, EBI-12831526;
CC Q8TAF8; O95452: GJB6; NbExp=3; IntAct=EBI-2820517, EBI-13345609;
CC Q8TAF8; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-2820517, EBI-13345167;
CC Q8TAF8; O60883: GPR37L1; NbExp=3; IntAct=EBI-2820517, EBI-2927498;
CC Q8TAF8; O15529: GPR42; NbExp=3; IntAct=EBI-2820517, EBI-18076404;
CC Q8TAF8; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-2820517, EBI-13067820;
CC Q8TAF8; Q8TED1: GPX8; NbExp=3; IntAct=EBI-2820517, EBI-11721746;
CC Q8TAF8; O00219-2: HAS3; NbExp=3; IntAct=EBI-2820517, EBI-17186025;
CC Q8TAF8; P01906: HLA-DQA2; NbExp=3; IntAct=EBI-2820517, EBI-19949550;
CC Q8TAF8; Q9Y5U4: INSIG2; NbExp=3; IntAct=EBI-2820517, EBI-8503746;
CC Q8TAF8; P05107: ITGB2; NbExp=3; IntAct=EBI-2820517, EBI-300173;
CC Q8TAF8; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-2820517, EBI-10266796;
CC Q8TAF8; Q8N6L0: KASH5; NbExp=9; IntAct=EBI-2820517, EBI-749265;
CC Q8TAF8; O95279: KCNK5; NbExp=3; IntAct=EBI-2820517, EBI-3934936;
CC Q8TAF8; P43628: KIR2DL3; NbExp=3; IntAct=EBI-2820517, EBI-8632435;
CC Q8TAF8; Q86UP2-3: KTN1; NbExp=3; IntAct=EBI-2820517, EBI-12007212;
CC Q8TAF8; O43561-2: LAT; NbExp=3; IntAct=EBI-2820517, EBI-8070286;
CC Q8TAF8; Q9H400: LIME1; NbExp=3; IntAct=EBI-2820517, EBI-2830566;
CC Q8TAF8; Q9UIQ6-2: LNPEP; NbExp=3; IntAct=EBI-2820517, EBI-12133176;
CC Q8TAF8; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-2820517, EBI-12033434;
CC Q8TAF8; Q8N386: LRRC25; NbExp=3; IntAct=EBI-2820517, EBI-11304917;
CC Q8TAF8; Q9HCJ2: LRRC4C; NbExp=3; IntAct=EBI-2820517, EBI-3925442;
CC Q8TAF8; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-2820517, EBI-11956541;
CC Q8TAF8; Q6N075: MFSD5; NbExp=3; IntAct=EBI-2820517, EBI-3920969;
CC Q8TAF8; P30301: MIP; NbExp=3; IntAct=EBI-2820517, EBI-8449636;
CC Q8TAF8; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-2820517, EBI-12070086;
CC Q8TAF8; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-2820517, EBI-3923617;
CC Q8TAF8; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-2820517, EBI-10317425;
CC Q8TAF8; Q0D2K0: NIPAL4; NbExp=3; IntAct=EBI-2820517, EBI-9550165;
CC Q8TAF8; Q16617: NKG7; NbExp=3; IntAct=EBI-2820517, EBI-3919611;
CC Q8TAF8; Q8N912: NRAC; NbExp=3; IntAct=EBI-2820517, EBI-12051377;
CC Q8TAF8; Q8WWG1: NRG4; NbExp=3; IntAct=EBI-2820517, EBI-8637292;
CC Q8TAF8; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-2820517, EBI-716063;
CC Q8TAF8; Q9Y342: PLLP; NbExp=3; IntAct=EBI-2820517, EBI-3919291;
CC Q8TAF8; P60201-2: PLP1; NbExp=3; IntAct=EBI-2820517, EBI-12188331;
CC Q8TAF8; Q04941: PLP2; NbExp=3; IntAct=EBI-2820517, EBI-608347;
CC Q8TAF8; Q96TC7: RMDN3; NbExp=3; IntAct=EBI-2820517, EBI-1056589;
CC Q8TAF8; Q9NS64: RPRM; NbExp=3; IntAct=EBI-2820517, EBI-1052363;
CC Q8TAF8; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-2820517, EBI-8636004;
CC Q8TAF8; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-2820517, EBI-3920694;
CC Q8TAF8; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-2820517, EBI-8652744;
CC Q8TAF8; O75396: SEC22B; NbExp=3; IntAct=EBI-2820517, EBI-1058865;
CC Q8TAF8; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-2820517, EBI-10329948;
CC Q8TAF8; Q8N6R1: SERP2; NbExp=3; IntAct=EBI-2820517, EBI-749270;
CC Q8TAF8; A2A2V5: SERTM1; NbExp=3; IntAct=EBI-2820517, EBI-17284533;
CC Q8TAF8; O95436-2: SLC34A2; NbExp=3; IntAct=EBI-2820517, EBI-12811757;
CC Q8TAF8; P78382: SLC35A1; NbExp=3; IntAct=EBI-2820517, EBI-12870360;
CC Q8TAF8; Q969S0: SLC35B4; NbExp=3; IntAct=EBI-2820517, EBI-10281213;
CC Q8TAF8; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-2820517, EBI-17295964;
CC Q8TAF8; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-2820517, EBI-12266234;
CC Q8TAF8; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-2820517, EBI-12188413;
CC Q8TAF8; P57105: SYNJ2BP; NbExp=3; IntAct=EBI-2820517, EBI-1049004;
CC Q8TAF8; Q9Y6I9: TEX264; NbExp=3; IntAct=EBI-2820517, EBI-10329860;
CC Q8TAF8; P02786: TFRC; NbExp=3; IntAct=EBI-2820517, EBI-355727;
CC Q8TAF8; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-2820517, EBI-6268651;
CC Q8TAF8; Q96CE8: TM4SF18; NbExp=3; IntAct=EBI-2820517, EBI-13351685;
CC Q8TAF8; P48230: TM4SF4; NbExp=3; IntAct=EBI-2820517, EBI-8650934;
CC Q8TAF8; Q9NV29: TMEM100; NbExp=3; IntAct=EBI-2820517, EBI-8644968;
CC Q8TAF8; Q6UX40: TMEM107; NbExp=3; IntAct=EBI-2820517, EBI-12845616;
CC Q8TAF8; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-2820517, EBI-10694905;
CC Q8TAF8; Q5SNT2-2: TMEM201; NbExp=3; IntAct=EBI-2820517, EBI-11994282;
CC Q8TAF8; A2RU14: TMEM218; NbExp=3; IntAct=EBI-2820517, EBI-10173151;
CC Q8TAF8; Q8NBD8: TMEM229B; NbExp=3; IntAct=EBI-2820517, EBI-12195227;
CC Q8TAF8; Q9NWD8: TMEM248; NbExp=3; IntAct=EBI-2820517, EBI-10314986;
CC Q8TAF8; Q8TBM7: TMEM254; NbExp=3; IntAct=EBI-2820517, EBI-11956809;
CC Q8TAF8; Q69YG0: TMEM42; NbExp=3; IntAct=EBI-2820517, EBI-12038591;
CC Q8TAF8; P56557: TMEM50B; NbExp=3; IntAct=EBI-2820517, EBI-12366453;
CC Q8TAF8; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-2820517, EBI-18178701;
CC Q8TAF8; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-2820517, EBI-2852148;
CC Q8TAF8; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-2820517, EBI-12015604;
CC Q8TAF8; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-2820517, EBI-12111910;
CC Q8TAF8; Q9H3N1: TMX1; NbExp=3; IntAct=EBI-2820517, EBI-1051115;
CC Q8TAF8; Q9Y320: TMX2; NbExp=3; IntAct=EBI-2820517, EBI-6447886;
CC Q8TAF8; Q86UF1: TSPAN33; NbExp=3; IntAct=EBI-2820517, EBI-12045841;
CC Q8TAF8; P41732: TSPAN7; NbExp=3; IntAct=EBI-2820517, EBI-1042779;
CC Q8TAF8; P30536: TSPO; NbExp=3; IntAct=EBI-2820517, EBI-6623146;
CC Q8TAF8; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-2820517, EBI-10243654;
CC Q8TAF8; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-2820517, EBI-11988865;
CC Q8TAF8; Q9Y5Z9: UBIAD1; NbExp=3; IntAct=EBI-2820517, EBI-2819725;
CC Q8TAF8; Q15836: VAMP3; NbExp=3; IntAct=EBI-2820517, EBI-722343;
CC Q8TAF8; Q3ZAQ7: VMA21; NbExp=3; IntAct=EBI-2820517, EBI-1055364;
CC Q8TAF8; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-2820517, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q4KL25};
CC Multi-pass membrane protein {ECO:0000255}. Note=Efficient localization
CC to the plasma membrane requires the presence of PCDH15.
CC {ECO:0000250|UniProtKB:Q4KL25}.
CC -!- DISEASE: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]: A
CC form of non-syndromic sensorineural hearing loss. Sensorineural
CC deafness results from damage to the neural receptors of the inner ear,
CC the nerve pathways to the brain, or the area of the brain that receives
CC sound information. {ECO:0000269|PubMed:16459341,
CC ECO:0000269|PubMed:16752389, ECO:0000269|PubMed:26437881,
CC ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the LHFP family. {ECO:0000305}.
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DR EMBL; AK126841; BAG54378.1; -; mRNA.
DR EMBL; AL157823; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028630; AAH28630.1; -; mRNA.
DR CCDS; CCDS4812.1; -.
DR RefSeq; NP_872354.1; NM_182548.3.
DR AlphaFoldDB; Q8TAF8; -.
DR SMR; Q8TAF8; -.
DR BioGRID; 128811; 137.
DR IntAct; Q8TAF8; 124.
DR STRING; 9606.ENSP00000353346; -.
DR TCDB; 1.A.82.1.1; the lhfpl tetraspan protein (ltsp) family.
DR BioMuta; LHFPL5; -.
DR DMDM; 74751349; -.
DR MassIVE; Q8TAF8; -.
DR PaxDb; Q8TAF8; -.
DR PRIDE; Q8TAF8; -.
DR Antibodypedia; 55280; 90 antibodies from 17 providers.
DR DNASU; 222662; -.
DR Ensembl; ENST00000360215.3; ENSP00000353346.1; ENSG00000197753.11.
DR Ensembl; ENST00000651132.1; ENSP00000498322.1; ENSG00000197753.11.
DR Ensembl; ENST00000651676.1; ENSP00000498699.1; ENSG00000197753.11.
DR GeneID; 222662; -.
DR KEGG; hsa:222662; -.
DR MANE-Select; ENST00000360215.3; ENSP00000353346.1; NM_182548.4; NP_872354.1.
DR UCSC; uc003olg.2; human.
DR CTD; 222662; -.
DR DisGeNET; 222662; -.
DR GeneCards; LHFPL5; -.
DR GeneReviews; LHFPL5; -.
DR HGNC; HGNC:21253; LHFPL5.
DR HPA; ENSG00000197753; Tissue enhanced (bone marrow, epididymis).
DR MalaCards; LHFPL5; -.
DR MIM; 609427; gene.
DR MIM; 610265; phenotype.
DR neXtProt; NX_Q8TAF8; -.
DR OpenTargets; ENSG00000197753; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA134943389; -.
DR VEuPathDB; HostDB:ENSG00000197753; -.
DR eggNOG; KOG4026; Eukaryota.
DR GeneTree; ENSGT00990000203541; -.
DR HOGENOM; CLU_084868_1_2_1; -.
DR InParanoid; Q8TAF8; -.
DR OMA; HPRWIDS; -.
DR OrthoDB; 1219117at2759; -.
DR PhylomeDB; Q8TAF8; -.
DR TreeFam; TF321143; -.
DR PathwayCommons; Q8TAF8; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR SignaLink; Q8TAF8; -.
DR SIGNOR; Q8TAF8; -.
DR BioGRID-ORCS; 222662; 14 hits in 1005 CRISPR screens.
DR ChiTaRS; LHFPL5; human.
DR GenomeRNAi; 222662; -.
DR Pharos; Q8TAF8; Tbio.
DR PRO; PR:Q8TAF8; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8TAF8; protein.
DR Bgee; ENSG00000197753; Expressed in body of pancreas and 95 other tissues.
DR ExpressionAtlas; Q8TAF8; baseline and differential.
DR Genevisible; Q8TAF8; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032426; C:stereocilium tip; IEA:Ensembl.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl.
DR GO; GO:0050974; P:detection of mechanical stimulus involved in sensory perception; IBA:GO_Central.
DR GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR GO; GO:0007605; P:sensory perception of sound; IBA:GO_Central.
DR InterPro; IPR019372; LHFPL.
DR PANTHER; PTHR12489; PTHR12489; 1.
DR Pfam; PF10242; L_HMGIC_fpl; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Deafness; Disease variant; Ion transport; Membrane;
KW Non-syndromic deafness; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..219
FT /note="LHFPL tetraspan subfamily member 5 protein"
FT /id="PRO_0000285922"
FT TOPO_DOM 1..24
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 25..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 46..99
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 121..128
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 129..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 150..178
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 200..219
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VARIANT 127
FT /note="Y -> C (in DFNB67; dbSNP:rs104893975)"
FT /evidence="ECO:0000269|PubMed:16459341"
FT /id="VAR_032055"
FT VARIANT 158
FT /note="R -> W (in DFNB67; dbSNP:rs753739358)"
FT /evidence="ECO:0000269|PubMed:26437881"
FT /id="VAR_079038"
FT VARIANT 165
FT /note="T -> M (in DFNB67; dbSNP:rs104893976)"
FT /evidence="ECO:0000269|PubMed:16752389"
FT /id="VAR_032056"
FT VARIANT 176
FT /note="R -> L (in DFNB67; dbSNP:rs774466373)"
FT /evidence="ECO:0000269|PubMed:16752389"
FT /id="VAR_032057"
FT CONFLICT 4
FT /note="L -> M (in Ref. 1; BAG54378)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 219 AA; 24201 MW; 1972C1A8F0FAE545 CRC64;
MVKLLPAQEA AKIYHTNYVR NSRAVGVMWG TLTICFSVLV MALFIQPYWI GDSVNTPQAG
YFGLFSYCVG NVLSSELICK GGPLDFSSIP SRAFKTAMFF VALGMFLIIG SIICFSLFFI
CNTATVYKIC AWMQLAAATG LMIGCLVYPD GWDSSEVRRM CGEQTGKYTL GHCTIRWAFM
LAILSIGDAL ILSFLAFVLG YRQDKLLPDD YKADGTEEV
