LOXH1_HUMAN
ID LOXH1_HUMAN Reviewed; 2067 AA.
AC Q8IVV2; B7WNN3; B7WNT1; B7WPI9; H7BZ41; Q6ZRY7; Q86WW9; Q96DL7;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 4.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Lipoxygenase homology domain-containing protein 1;
GN Name=LOXHD1;
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] (ISOFORM 5).
RC TISSUE=Testis;
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=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Brain, and Testis;
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 [5]
RP INVOLVEMENT IN DFNB77, AND FUNCTION.
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).
CC -!- FUNCTION: Involved in hearing. Required for normal function of hair
CC cells in the inner ear (By similarity). {ECO:0000250,
CC ECO:0000269|PubMed:19732867}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8IVV2-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q8IVV2-3; Sequence=VSP_059671, VSP_059672, VSP_059674;
CC Name=4;
CC IsoId=Q8IVV2-4; Sequence=VSP_028947, VSP_059673;
CC Name=5;
CC IsoId=Q8IVV2-5; Sequence=VSP_028947;
CC -!- DISEASE: Deafness, autosomal recessive, 77 (DFNB77) [MIM:613079]: A
CC form of non-syndromic deafness characterized by preserved low-frequency
CC hearing, and a trend toward mild to moderate mid-frequency and high-
CC frequency hearing loss during childhood and adolescence. Hearing loss
CC progresses to become moderate to severe at mid and high frequencies
CC during adulthood. {ECO:0000269|PubMed:19732867}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
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DR EMBL; AK057232; BAB71390.1; -; mRNA.
DR EMBL; AK127869; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC018931; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC064800; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC091139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KC877690; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471088; EAX01479.1; -; Genomic_DNA.
DR EMBL; CH471088; EAX01480.1; -; Genomic_DNA.
DR EMBL; BC041860; AAH41860.1; -; mRNA.
DR EMBL; BC047720; AAH47720.1; -; mRNA.
DR CCDS; CCDS45861.1; -. [Q8IVV2-3]
DR CCDS; CCDS45862.1; -. [Q8IVV2-5]
DR CCDS; CCDS54184.1; -. [Q8IVV2-4]
DR RefSeq; NP_001138944.1; NM_001145472.2. [Q8IVV2-3]
DR RefSeq; NP_001138945.1; NM_001145473.2. [Q8IVV2-5]
DR RefSeq; NP_001166600.1; NM_001173129.1. [Q8IVV2-4]
DR RefSeq; NP_653213.6; NM_144612.6.
DR RefSeq; XP_011524113.1; XM_011525811.2. [Q8IVV2-5]
DR RefSeq; XP_016881037.1; XM_017025548.1. [Q8IVV2-1]
DR AlphaFoldDB; Q8IVV2; -.
DR SMR; Q8IVV2; -.
DR BioGRID; 125926; 4.
DR IntAct; Q8IVV2; 1.
DR STRING; 9606.ENSP00000300591; -.
DR CarbonylDB; Q8IVV2; -.
DR GlyGen; Q8IVV2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IVV2; -.
DR PhosphoSitePlus; Q8IVV2; -.
DR BioMuta; LOXHD1; -.
DR DMDM; 294862503; -.
DR EPD; Q8IVV2; -.
DR jPOST; Q8IVV2; -.
DR MassIVE; Q8IVV2; -.
DR PaxDb; Q8IVV2; -.
DR PeptideAtlas; Q8IVV2; -.
DR PRIDE; Q8IVV2; -.
DR Antibodypedia; 49424; 37 antibodies from 6 providers.
DR DNASU; 125336; -.
DR Ensembl; ENST00000300591.11; ENSP00000300591.6; ENSG00000167210.17. [Q8IVV2-3]
DR Ensembl; ENST00000398686.8; ENSP00000381676.4; ENSG00000167210.17. [Q8IVV2-5]
DR Ensembl; ENST00000398705.7; ENSP00000381692.2; ENSG00000167210.17. [Q8IVV2-4]
DR Ensembl; ENST00000441551.6; ENSP00000387621.2; ENSG00000167210.17. [Q8IVV2-1]
DR GeneID; 125336; -.
DR KEGG; hsa:125336; -.
DR UCSC; uc002lcd.5; human. [Q8IVV2-1]
DR CTD; 125336; -.
DR DisGeNET; 125336; -.
DR GeneCards; LOXHD1; -.
DR GeneReviews; LOXHD1; -.
DR HGNC; HGNC:26521; LOXHD1.
DR HPA; ENSG00000167210; Group enriched (epididymis, testis).
DR MalaCards; LOXHD1; -.
DR MIM; 613072; gene.
DR MIM; 613079; phenotype.
DR neXtProt; NX_Q8IVV2; -.
DR OpenTargets; ENSG00000167210; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA134878065; -.
DR VEuPathDB; HostDB:ENSG00000167210; -.
DR eggNOG; KOG3599; Eukaryota.
DR GeneTree; ENSGT00390000018830; -.
DR HOGENOM; CLU_009895_1_0_1; -.
DR InParanoid; Q8IVV2; -.
DR OMA; MICEMPA; -.
DR OrthoDB; 20587at2759; -.
DR PhylomeDB; Q8IVV2; -.
DR TreeFam; TF350466; -.
DR PathwayCommons; Q8IVV2; -.
DR SignaLink; Q8IVV2; -.
DR BioGRID-ORCS; 125336; 6 hits in 1063 CRISPR screens.
DR ChiTaRS; LOXHD1; human.
DR GeneWiki; LOXHD1; -.
DR GenomeRNAi; 125336; -.
DR Pharos; Q8IVV2; Tbio.
DR PRO; PR:Q8IVV2; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q8IVV2; protein.
DR Bgee; ENSG00000167210; Expressed in left testis and 92 other tissues.
DR ExpressionAtlas; Q8IVV2; baseline and differential.
DR Genevisible; Q8IVV2; HS.
DR GO; GO:0032420; C:stereocilium; ISS:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
DR InterPro; IPR001024; PLAT/LH2_dom.
DR InterPro; IPR036392; PLAT/LH2_dom_sf.
DR Pfam; PF01477; PLAT; 15.
DR SMART; SM00308; LH2; 12.
DR SUPFAM; SSF49723; SSF49723; 15.
DR PROSITE; PS50095; PLAT; 15.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Deafness; Hearing;
KW Non-syndromic deafness; Reference proteome; Repeat.
FT CHAIN 1..2067
FT /note="Lipoxygenase homology domain-containing protein 1"
FT /id="PRO_0000308256"
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 969..1087
FT /note="PLAT 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1100..1225
FT /note="PLAT 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1254..1372
FT /note="PLAT 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1421..1539
FT /note="PLAT 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1552..1667
FT /note="PLAT 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1679..1797
FT /note="PLAT 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1810..1931
FT /note="PLAT 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT DOMAIN 1948..2064
FT /note="PLAT 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00152"
FT VAR_SEQ 1..1555
FT /note="Missing (in isoform 5 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028947"
FT VAR_SEQ 1..905
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059671"
FT VAR_SEQ 2008..2019
FT /note="GELRKVRLEHDS -> VVTRLGLAAECG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059672"
FT VAR_SEQ 2013..2067
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059673"
FT VAR_SEQ 2020..2067
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059674"
FT VARIANT 363
FT /note="V -> I (in dbSNP:rs10163657)"
FT /id="VAR_056923"
FT VARIANT 626
FT /note="G -> C (in dbSNP:rs34589386)"
FT /id="VAR_056924"
FT VARIANT 632
FT /note="G -> C (in dbSNP:rs35088381)"
FT /id="VAR_056925"
FT VARIANT 676
FT /note="D -> G (in dbSNP:rs16978578)"
FT /id="VAR_056926"
FT VARIANT 825
FT /note="V -> M (in dbSNP:rs36086089)"
FT /id="VAR_056927"
FT VARIANT 1177
FT /note="T -> M (in dbSNP:rs7244681)"
FT /id="VAR_056928"
FT VARIANT 1417
FT /note="E -> G (in dbSNP:rs12606417)"
FT /id="VAR_056929"
FT CONFLICT 949
FT /note="R -> G (in Ref. 4; AAH41860)"
FT /evidence="ECO:0000305"
FT CONFLICT 1040
FT /note="H -> N (in Ref. 4; AAH41860)"
FT /evidence="ECO:0000305"
FT CONFLICT 1221
FT /note="I -> V (in Ref. 4; AAH41860)"
FT /evidence="ECO:0000305"
FT CONFLICT 1892
FT /note="A -> V (in Ref. 4; AAH47720)"
FT /evidence="ECO:0000305"
FT CONFLICT 1910
FT /note="F -> L (in Ref. 1; BAB71390)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2067 AA; 235677 MW; DE990B7BB824A094 CRC64;
MMPQKKRRRK KDIDFLALYE AELLNYASED DEGELEHEYY KARVYEVVTA TGDVRGAGTD
ANVFITLFGE NGLSPKLQLT SKSKSAFEKG NVDVFRVRTN NVGLIYKVRI EHDNTGLNAS
WYLDHVIVTD MKRPHLRYYF NCNNWLSKVE GDRQWCRDLL ASFNPMDMPR GNKYEVKVYT
GDVIGAGTDA DVFINIFGEY GDTGERRLEN EKDNFEKGAE DRFILDAPDL GQLMKINVGH
NNKGGSAGWF LSQIVIEDIG NKRKYDFPLN RWLALDEDDG KIQRDILVGG AETTAITYIV
TVFTGDVRGA GTKSKIYLVM YGARGNKNSG KIFLEGGVFD RGRTDIFHIE LAVLLSPLSR
VSVGHGNVGV NRGWFCEKVV ILCPFTGIQQ TFPCSNWLDE KKADGLIERQ LYEMVSLRKK
RLKKFPWSLW VWTTDLKKAG TNSPIFIQIY GQKGRTDEIL LNPNNKWFKP GIIEKFRIEL
PDLGRFYKIR VWHDKRSSGS GWHLERMTLM NTLNKDKYNF NCNRWLDANE DDNEIVREMT
AEGPTVRRIM GMARYHVTVC TGELEGAGTD ANVYLCLFGD VGDTGERLLY NCRNNTDLFE
KGNADEFTIE SVTMRNVRRV RIRHDGKGSG SGWYLDRVLV REEGQPESDN VEFPCLRWLD
KDKDDGQLVR ELLPSDSSAT LKNFRYHISL KTGDVSGAST DSRVYIKLYG DKSDTIKQVL
LVSDNNLKDY FERGRVDEFT LETLNIGNIN RLVIGHDSTG MHASWFLGSV QIRVPRQGKQ
YTFPANRWLD KNQADGRLEV ELYPSEVVEI QKLVHYEVEI WTGDVGGAGT SARVYMQIYG
EKGKTEVLFL SSRSKVFERA SKDTFQTDTF TIYAIDLGAL TKIRIRHDNT GNRAGWFLDR
IDITDMNNEI TYYFPCQRWL AVEEDDGQLS RELLPVDESY VLPQSEEGRG GGDNNPLDNL
ALEQKDKSTT FSVTIKTGVK KNAGTDANVF ITLFGTQDDT GMTLLKSSKT NSDKFERDSI
EIFTVETLDL GDLWKVRLGH DNTGKAPGWF VDWVEVDAPS LGKCMTFPCG RWLAKNEDDG
SIIRDLFHAE LQTRLYTPFV PYEITLYTSD VFAAGTDANI FIIIYGCDAV CTQQKYLCTN
KREQKQFFER KSASRFIVEL EDVGEIIEKI RIGHNNTGMN PGWHCSHVDI RRLLPDKDGA
ETLTFPCDRW LATSEDDKKT IRELVPYDIF TEKYMKDGSL RQVYKEVEEP LDIVLYSVQI
FTGNIPGAGT DAKVYITIYG DLGDTGERYL GKSENRTNKF ERGTADTFII EAADLGVIYK
IKLRHDNSKW CADWYVEKVE IWNDTNEDEF LFLCGRWLSL KKEDGRLERL FYEKEYTGDR
SSNCSSPADF WEIALSSKMA DVDISTVTGP MADYVQEGPI IPYYVSVTTG KHKDAATDSR
AFIFLIGEDD ERSKRIWLDY PRGKRGFSRG SVEEFYVAGL DVGIIKKIEL GHDGASPESC
WLVEELCLAV PTQGTKYMLN CNCWLAKDRG DGITSRVFDL LDAMVVNIGV KVLYEMTVWT
GDVVGGGTDS NIFMTLYGIN GSTEEMQLDK KKARFEREQN DTFIMEILDI APFTKMRIRI
DGLGSRPEWF LERILLKNMN TGDLTMFYYG DWLSQRKGKK TLVCEMCAVI DEEEMMEWTS
YTVAVKTSDI LGAGTDANVF IIIFGENGDS GTLALKQSAN WNKFERNNTD TFNFPDMLSL
GHLCKLRVWH DNKGIFPGWH LSYVDVKDNS RDETFHFQCD CWLSKSEGDG QTVRDFACAN
NKICDELEET TYEIVIETGN GGETRENVWL ILEGRKNRSK EFLMENSSRQ RAFRKGTTDT
FEFDSIYLGD IASLCVGHLA REDRFIPKRE LAWHVKTITI TEMEYGNVYF FNCDCLIPLK
RKRKYFKVFE VTKTTESFAS KVQSLVPVKY EVIVTTGYEP GAGTDANVFV TIFGANGDTG
KRELKQKMRN LFERGSTDRF FLETLELGEL RKVRLEHDSS GYCSGWLVEK VEVTNTSTGV
ATIFNCGRWL DKKRGDGLTW RDLFPSV
