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 29-SEP-2021, entry version 143. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 BioGRID; 128811; 127. 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 PaxDb; Q8TAF8; -. DR PRIDE; Q8TAF8; -. DR ProteomicsDB; 73878; -. DR Antibodypedia; 55280; 90 antibodies. DR DNASU; 222662; -. DR Ensembl; ENST00000360215; ENSP00000353346; ENSG00000197753. DR Ensembl; ENST00000651132; ENSP00000498322; ENSG00000197753. DR Ensembl; ENST00000651676; ENSP00000498699; ENSG00000197753. DR GeneID; 222662; -. DR KEGG; hsa:222662; -. 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; Group enriched (bone marrow, brain, epididymis, pancreas). 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; VLMVMGC; -. 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 SIGNOR; Q8TAF8; -. DR BioGRID-ORCS; 222662; 9 hits in 946 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 51 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 //