LOXH1_MOUSE
ID LOXH1_MOUSE Reviewed; 2068 AA.
AC C8YR32; Q8BMY5;
DT 20-APR-2010, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 1.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Lipoxygenase homology domain-containing protein 1;
GN Name=Loxhd1;
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], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, AND VARIANT ASN-1342.
RC STRAIN=C57BL/6J; TISSUE=Organ of Corti;
RX PubMed=19732867; DOI=10.1016/j.ajhg.2009.07.017;
RA Grillet N., Schwander M., Hildebrand M.S., Sczaniecka A., Kolatkar A.,
RA Velasco J., Webster J.A., Kahrizi K., Najmabadi H., Kimberling W.J.,
RA Stephan D., Bahlo M., Wiltshire T., Tarantino L.M., Kuhn P., Smith R.J.H.,
RA Mueller U.;
RT "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein,
RT disrupt hair cell function in mice and cause progressive hearing loss in
RT humans.";
RL Am. J. Hum. Genet. 85:328-337(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1948-2068.
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
CC -!- FUNCTION: Required for normal function of hair cells in the inner ear.
CC {ECO:0000269|PubMed:19732867}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium
CC {ECO:0000269|PubMed:19732867}.
CC -!- TISSUE SPECIFICITY: Expressed in the inner ear, specifically in hair
CC cells. Higher expression is detected in the cochlea.
CC {ECO:0000269|PubMed:19732867}.
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DR EMBL; FJ750876; ACV52550.1; -; mRNA.
DR EMBL; AK007091; BAC25164.1; -; mRNA.
DR CCDS; CCDS50326.1; -.
DR RefSeq; NP_766422.2; NM_172834.2.
DR AlphaFoldDB; C8YR32; -.
DR SMR; C8YR32; -.
DR BioGRID; 232198; 1.
DR STRING; 10090.ENSMUSP00000094294; -.
DR iPTMnet; C8YR32; -.
DR PhosphoSitePlus; C8YR32; -.
DR PaxDb; C8YR32; -.
DR PRIDE; C8YR32; -.
DR ProteomicsDB; 292352; -.
DR Antibodypedia; 49424; 37 antibodies from 6 providers.
DR Ensembl; ENSMUST00000096547; ENSMUSP00000094294; ENSMUSG00000032818.
DR GeneID; 240411; -.
DR KEGG; mmu:240411; -.
DR UCSC; uc012bfd.1; mouse.
DR CTD; 125336; -.
DR MGI; MGI:1914609; Loxhd1.
DR VEuPathDB; HostDB:ENSMUSG00000032818; -.
DR eggNOG; KOG3599; Eukaryota.
DR GeneTree; ENSGT00390000018830; -.
DR HOGENOM; CLU_000717_0_0_1; -.
DR InParanoid; C8YR32; -.
DR OrthoDB; 20587at2759; -.
DR PhylomeDB; C8YR32; -.
DR TreeFam; TF350466; -.
DR BioGRID-ORCS; 240411; 2 hits in 73 CRISPR screens.
DR PRO; PR:C8YR32; -.
DR Proteomes; UP000000589; Chromosome 18.
DR RNAct; C8YR32; protein.
DR Bgee; ENSMUSG00000032818; Expressed in spermatocyte and 2 other tissues.
DR ExpressionAtlas; C8YR32; baseline and differential.
DR GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR InterPro; IPR001024; PLAT/LH2_dom.
DR InterPro; IPR036392; PLAT/LH2_dom_sf.
DR Pfam; PF01477; PLAT; 15.
DR SMART; SM00308; LH2; 13.
DR SUPFAM; SSF49723; SSF49723; 15.
DR PROSITE; PS50095; PLAT; 15.
PE 2: Evidence at transcript level;
KW Cell projection; Hearing; Reference proteome; Repeat.
FT CHAIN 1..2068
FT /note="Lipoxygenase homology domain-containing protein 1"
FT /id="PRO_0000393330"
FT DOMAIN 43..160
FT /note="PLAT 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 172..287
FT /note="PLAT 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 296..412
FT /note="PLAT 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 425..540
FT /note="PLAT 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 553..673
FT /note="PLAT 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 684..803
FT /note="PLAT 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 814..934
FT /note="PLAT 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 970..1088
FT /note="PLAT 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1101..1226
FT /note="PLAT 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1255..1373
FT /note="PLAT 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1422..1540
FT /note="PLAT 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1553..1668
FT /note="PLAT 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1680..1798
FT /note="PLAT 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1811..1932
FT /note="PLAT 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1949..2065
FT /note="PLAT 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT VARIANT 1342
FT /note="I -> N (in the samba murine model of hearing loss)"
FT /evidence="ECO:0000269|PubMed:19732867"
SQ SEQUENCE 2068 AA; 235757 MW; 65B9CEE21632016B CRC64;
MMAQKKKRRK KDIDFLGLYE EELLNYDSED GEDELEHEYY KAKVYEVVTA TGDVRGAGTD
ANVFITLFGE NGLSPKLHLT SKSESAFEKA NVDVFRVRTN NVGLIYKIRI EHDNTGLNAS
WYLDRVIVTD MKRPHLRYYF NCNNWLSKVE GDRQWCRDLL ASFDPMDMPR GNKYEIKVYT
GDVIGAGTDA DVFINIFGEY GDTGERRLEN EKDNFEKGAE DKFTLDAPDL GQLMKINVGH
NNKGGSAGWF LSKIIIEDIG NKRKYDFPLN RWLALDEDDG KIQRDILVGG AETTAITYIV
TVFTGDIRGA GTKSKIYLVM YGARGNKNSG KIFLEGGVFD RGRTDIFHID LAVLLSPLSR
VSIGHGNIGV NRGWYCEKVV ILCPFTGIQQ TFPCSNWLDE KKADGLIERQ LYEMVSLRKK
RLKKYPWSLW VWTTDLKKAG TNSPIFIQIY GKKGRTDEIL LNPNNKWFKP GIIEKFRMEL
PDLGRFYKIR AWHDRQNPGS GWHLEKMTLM NTINKDKYNF NCNRWLDANE DDNEIVREMT
AEGPTVRRIM GMARYRVTVC TGELEGAGTD ANVYLCLFGD VGDTGERLLY NCRNNTDLFE
KGNADEFTIE SVTMRKVRRV RVRHDGKGSG SGWYLDRVLV REEGQPESDN VEFPCLRWLD
KDKDDGQLVR ELLPSDSNAT LKNFRYHISV KTGDVSGAST DSRVYIKLYG EKSDTIKQVL
LVSDNNLKDY FERGRVDEFT LETLNIGTIN RLVIGHDSTG MHAGWFLGSV QIRVPRQGKQ
YTFPANRWLD KNQADGRLEV ELYPSEVVEI QKLVHYEIEI WTGDVGGAGT TSRVFVQIYG
EEGKTEVLFL SSRSKVFDRG SKDIFQTDTF TIYAIDLGAL TKIRIRHDNT GNRPGWFLDR
VDITDVNNET TYYFPCQRWL AVEEDDGQLS RELLPVDESY VLPSEDEEGG GQGDNNPLDN
LALEQKDKST TFSVTIKTGD KKNAGTDANV FITLFGTQDN NGMTLLKSSK TNSDKFERDS
IEIFTVETLD LGDLWKVRIG HDNTGKAPGW FVDWVEVDAP SLGKCMTFPC GRWLAKNEDD
GSIVRDLFHA ELQTRLYTPF VPYEITLYTS DVFAAGTDAN IFIVIYGCDA VCTRQKFLCT
NKREQKLFFE RKSASRFIVE LEDVGEIIEK IRIGHDNTGI NPGWHCSHVD IRRLLPEKDG
TETLTFPCDR WLATSEDDKK TIRELVPYDI FTEKYMKDGS LRQVYKEVEE PLDIVLYSVQ
IFTGNVPGAG TDAKVYITIY GDLGDTGERY LGKSENRTNK FEKGTADTFI IEAADLGVIY
KIKLRHDNTK WCADWYVEKV EIWNDTNEDE FLFLCGRWLS LKKEDGRLER LFYEKEYTGD
RSSNCSSPAD FWEIALSSKM ADVDIDTVTG PMVDYVQDGP VIPYYVSVTT GKHKEAATDS
RAFVLLIGED DECTNRIWLD YPQGKRGFSC GSVEEFYVGG LDVGIIKKIE LGHDGASPES
CWLVEELCLA VPTQGTKYTL RCNCWLAKDR GDGVTSRVFD LLDAMVVNIG KKVLYEMTVW
TGDVVGGGTD SNIFMTLYGI NGSTEEVQLD KKKARFEREQ NDTFIMEILD IAPFTKMRIR
IDGMGSRPEW FLERILLKNM NTGDLTMFYY GDWLSQKKGK KTLVCEICAV IDGEEMMEWT
SYTVSVKTSD ILGAGTDANV FIIIFGENGD SGTLALKQSA NWNKFERNNT DTFNFSDMLS
LGHLCKLRVW HDNKGIFPGW HLSYVDVKDN SRDETFRFQC DCWLSKSEGD RQTLRDFACA
NNEIRDELEE TTYEIVIETG NGGETRENVW LILEGRKNRS KEFLVENSSR QRAFRKGTTD
TFEFDSIFLG DIASLCVGHL AREDRFIPKR ELVWHVKTIT ITEMEYGNVY FFNCDCLIPL
KRKRKYFKVF EVTKTTESFA SKIQSLVPVK YEVIVTTGYE PGAGTDANVF VTIFGANGDT
GKRELKQKMR NLFERGSTDR FFLETLELGE LRKVRLEHDS SGYYSGWLVE KVEVTNTSTG
VATIFSCGRW LDKSRGDGLT WRELFPSV
