MYO15_HUMAN
ID MYO15_HUMAN Reviewed; 3530 AA.
AC Q9UKN7; B4DFC7;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=Unconventional myosin-XV;
DE AltName: Full=Unconventional myosin-15;
GN Name=MYO15A; Synonyms=MYO15;
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 [GENOMIC DNA], AND VARIANTS DFNB3 TYR-2111 AND
RP PHE-2113.
RX PubMed=9603736; DOI=10.1126/science.280.5368.1447;
RA Wang A., Liang Y., Fridell R.A., Probst F.J., Wilcox E.R., Touchman J.W.,
RA Morton C.C., Morell R.J., Noben-Trauth K., Camper S.A., Friedman T.B.;
RT "Association of unconventional myosin MYO15 mutations with human
RT nonsyndromic deafness DFNB3.";
RL Science 280:1447-1451(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RX PubMed=10552926; DOI=10.1006/geno.1999.5976;
RA Liang Y., Wang A., Belyantseva I.A., Anderson D.W., Probst F.J.,
RA Barber T.D., Miller W., Touchman J.W., Jin L., Sullivan S.L., Sellers J.R.,
RA Camper S.A., Lloyd R.V., Kachar B., Friedman T.B., Fridell R.A.;
RT "Characterization of the human and mouse unconventional myosin XV genes
RT responsible for hereditary deafness DFNB3 and shaker 2.";
RL Genomics 61:243-258(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP INTERACTION WITH FASLG.
RX PubMed=19807924; DOI=10.1186/1471-2172-10-53;
RA Voss M., Lettau M., Janssen O.;
RT "Identification of SH3 domain interaction partners of human FasL (CD178) by
RT phage display screening.";
RL BMC Immunol. 10:53-53(2009).
RN [6]
RP VARIANT DFNB3 HIS-2716, AND VARIANT ILE-2205.
RX PubMed=11735029; DOI=10.1007/s004390100604;
RA Liburd N., Ghosh M., Riazuddin S., Naz S., Khan S., Ahmed Z., Riazuddin S.,
RA Liang Y., Menon P.S.N., Smith T., Smith A.C.M., Chen K.-S., Lupski J.R.,
RA Wilcox E.R., Potocki L., Friedman T.B.;
RT "Novel mutations of MYO15A associated with profound deafness in
RT consanguineous families and moderately severe hearing loss in a patient
RT with Smith-Magenis syndrome.";
RL Hum. Genet. 109:535-541(2001).
RN [7]
RP INVOLVEMENT IN DFNB3, AND VARIANT DFNB3 PRO-1806.
RX PubMed=24926664; DOI=10.1371/journal.pone.0099797;
RA Riahi Z., Bonnet C., Zainine R., Louha M., Bouyacoub Y., Laroussi N.,
RA Chargui M., Kefi R., Jonard L., Dorboz I., Hardelin J.P., Salah S.B.,
RA Levilliers J., Weil D., McElreavey K., Boespflug O.T., Besbes G.,
RA Abdelhak S., Petit C.;
RT "Whole exome sequencing identifies new causative mutations in Tunisian
RT families with non-syndromic deafness.";
RL PLoS ONE 9:E99797-E99797(2014).
CC -!- FUNCTION: Myosins are actin-based motor molecules with ATPase activity.
CC Unconventional myosins serve in intracellular movements. Their highly
CC divergent tails are presumed to bind to membranous compartments, which
CC would be moved relative to actin filaments. Required for the
CC arrangement of stereocilia in mature hair bundles (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with the third PDZ domain of WHRN which is necessary
CC for localization of WHRN to stereocilium tips. Interacts with EPS8 (By
CC similarity). Interacts with FASLG. {ECO:0000250,
CC ECO:0000269|PubMed:19807924}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}.
CC Cytoplasm, cytoskeleton {ECO:0000250}. Note=Localizes to stereocilium
CC tips in cochlear and vestibular hair cells. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UKN7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UKN7-2; Sequence=VSP_056655, VSP_056656;
CC -!- TISSUE SPECIFICITY: Highly expressed in pituitary. Also expressed at
CC lower levels in adult brain, kidney, liver, lung, pancreas, placenta
CC and skeletal muscle. Not expressed in brain. In the pituitary, highly
CC expressed in anterior gland cells. {ECO:0000269|PubMed:10552926}.
CC -!- DISEASE: Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]: A form
CC of non-syndromic sensorineural hearing loss. Sensorineural deafness
CC results from damage to the neural receptors of the inner ear, the nerve
CC pathways to the brain, or the area of the brain that receives sound
CC information. {ECO:0000269|PubMed:11735029, ECO:0000269|PubMed:24926664,
CC ECO:0000269|PubMed:9603736}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TRAFAC class myosin-kinesin ATPase
CC superfamily. Myosin family. {ECO:0000305}.
CC -!- CAUTION: Represents an unconventional myosin. This protein should not
CC be confused with the conventional myosin-15 (MYH15). {ECO:0000305}.
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DR EMBL; AF051976; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF144094; AAF05903.1; -; mRNA.
DR EMBL; AK294036; BAG57388.1; -; mRNA.
DR EMBL; AC087164; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS42271.1; -. [Q9UKN7-1]
DR PIR; A59266; A59266.
DR RefSeq; NP_057323.3; NM_016239.3. [Q9UKN7-1]
DR PDB; 6KZ1; X-ray; 1.69 A; B=3517-3530.
DR PDBsum; 6KZ1; -.
DR SMR; Q9UKN7; -.
DR BioGRID; 119348; 6.
DR IntAct; Q9UKN7; 6.
DR STRING; 9606.ENSP00000205890; -.
DR BindingDB; Q9UKN7; -.
DR ChEMBL; CHEMBL4295979; -.
DR iPTMnet; Q9UKN7; -.
DR PhosphoSitePlus; Q9UKN7; -.
DR BioMuta; MYO15A; -.
DR DMDM; 296439233; -.
DR EPD; Q9UKN7; -.
DR jPOST; Q9UKN7; -.
DR MassIVE; Q9UKN7; -.
DR MaxQB; Q9UKN7; -.
DR PaxDb; Q9UKN7; -.
DR PeptideAtlas; Q9UKN7; -.
DR PRIDE; Q9UKN7; -.
DR ProteomicsDB; 84825; -. [Q9UKN7-1]
DR Antibodypedia; 58384; 34 antibodies from 13 providers.
DR DNASU; 51168; -.
DR Ensembl; ENST00000418233.7; ENSP00000408800.3; ENSG00000091536.20. [Q9UKN7-2]
DR Ensembl; ENST00000647165.2; ENSP00000495481.1; ENSG00000091536.20. [Q9UKN7-1]
DR GeneID; 51168; -.
DR KEGG; hsa:51168; -.
DR MANE-Select; ENST00000647165.2; ENSP00000495481.1; NM_016239.4; NP_057323.3.
DR UCSC; uc010vxi.3; human. [Q9UKN7-1]
DR CTD; 51168; -.
DR DisGeNET; 51168; -.
DR GeneCards; MYO15A; -.
DR GeneReviews; MYO15A; -.
DR HGNC; HGNC:7594; MYO15A.
DR HPA; ENSG00000091536; Tissue enriched (pituitary).
DR MalaCards; MYO15A; -.
DR MIM; 600316; phenotype.
DR MIM; 602666; gene.
DR neXtProt; NX_Q9UKN7; -.
DR OpenTargets; ENSG00000091536; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA31395; -.
DR VEuPathDB; HostDB:ENSG00000091536; -.
DR eggNOG; KOG4229; Eukaryota.
DR GeneTree; ENSGT00940000155335; -.
DR HOGENOM; CLU_021039_0_0_1; -.
DR InParanoid; Q9UKN7; -.
DR OMA; AIQSMIT; -.
DR OrthoDB; 14609at2759; -.
DR PhylomeDB; Q9UKN7; -.
DR TreeFam; TF316834; -.
DR PathwayCommons; Q9UKN7; -.
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; Q9UKN7; -.
DR BioGRID-ORCS; 51168; 24 hits in 1073 CRISPR screens.
DR ChiTaRS; MYO15A; human.
DR GeneWiki; MYO15A; -.
DR GenomeRNAi; 51168; -.
DR Pharos; Q9UKN7; Tbio.
DR PRO; PR:Q9UKN7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9UKN7; protein.
DR Bgee; ENSG00000091536; Expressed in pituitary gland and 99 other tissues.
DR ExpressionAtlas; Q9UKN7; baseline and differential.
DR Genevisible; Q9UKN7; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IBA:GO_Central.
DR GO; GO:0098858; C:actin-based cell projection; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016459; C:myosin complex; IEA:UniProtKB-KW.
DR GO; GO:0032420; C:stereocilium; IEA:UniProtKB-SubCell.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
DR GO; GO:0000146; F:microfilament motor activity; IBA:GO_Central.
DR GO; GO:0007015; P:actin filament organization; IBA:GO_Central.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0009416; P:response to light stimulus; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR GO; GO:0030050; P:vesicle transport along actin filament; IBA:GO_Central.
DR CDD; cd14473; FERM_B-lobe; 1.
DR CDD; cd13201; FERM_C_MyoXV; 1.
DR CDD; cd01387; MYSc_Myo15; 1.
DR Gene3D; 1.25.40.530; -; 2.
DR Gene3D; 2.30.29.30; -; 1.
DR Gene3D; 3.40.850.10; -; 1.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR036961; Kinesin_motor_dom_sf.
DR InterPro; IPR035487; MYO15A.
DR InterPro; IPR001609; Myosin_head_motor_dom.
DR InterPro; IPR041795; MyoXV_FERM_C.
DR InterPro; IPR036057; MYSc_Myo15.
DR InterPro; IPR000857; MyTH4_dom.
DR InterPro; IPR038185; MyTH4_dom_sf.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR PANTHER; PTHR22692:SF21; PTHR22692:SF21; 1.
DR Pfam; PF00612; IQ; 1.
DR Pfam; PF00063; Myosin_head; 1.
DR Pfam; PF00784; MyTH4; 2.
DR Pfam; PF07653; SH3_2; 1.
DR PRINTS; PR00193; MYOSINHEAVY.
DR SMART; SM00295; B41; 1.
DR SMART; SM00015; IQ; 3.
DR SMART; SM00242; MYSc; 1.
DR SMART; SM00139; MyTH4; 2.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF47031; SSF47031; 1.
DR SUPFAM; SSF50044; SSF50044; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50057; FERM_3; 1.
DR PROSITE; PS50096; IQ; 3.
DR PROSITE; PS51456; MYOSIN_MOTOR; 1.
DR PROSITE; PS51016; MYTH4; 2.
DR PROSITE; PS50002; SH3; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Actin-binding; Alternative splicing; ATP-binding;
KW Calmodulin-binding; Cell projection; Coiled coil; Cytoplasm; Cytoskeleton;
KW Deafness; Disease variant; Hearing; Motor protein; Myosin;
KW Non-syndromic deafness; Nucleotide-binding; Reference proteome; Repeat;
KW SH3 domain.
FT CHAIN 1..3530
FT /note="Unconventional myosin-XV"
FT /id="PRO_0000123474"
FT DOMAIN 1222..1899
FT /note="Myosin motor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00782"
FT DOMAIN 1902..1924
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1925..1954
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 1955..1976
FT /note="IQ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 2065..2217
FT /note="MyTH4 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00359"
FT DOMAIN 2867..2953
FT /note="SH3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT DOMAIN 3050..3204
FT /note="MyTH4 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00359"
FT DOMAIN 3209..3530
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 615..710
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 730..1057
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1792..1799
FT /note="Actin-binding"
FT /evidence="ECO:0000255"
FT REGION 1888..2029
FT /note="Neck or regulatory domain"
FT REGION 2030..3530
FT /note="Tail"
FT REGION 2311..2381
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2414..2446
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2490..2509
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2644..2665
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1323..1350
FT /evidence="ECO:0000255"
FT COMPBIAS 1..31
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 662..686
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 837..853
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 899..915
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 928..942
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1025..1047
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2348..2375
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 1315..1322
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..2736
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056655"
FT VAR_SEQ 3498..3530
FT /note="GLELCRVVAVHVENLLSAHEKRLTLPPSEITLL -> VRAGEVLDGRGLSLS
FT PAGTGTVSCGGRARGEPAQCP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056656"
FT VARIANT 1806
FT /note="L -> P (in DFNB3)"
FT /evidence="ECO:0000269|PubMed:24926664"
FT /id="VAR_071648"
FT VARIANT 1977
FT /note="C -> R (in dbSNP:rs854777)"
FT /id="VAR_037959"
FT VARIANT 2018
FT /note="G -> R (in dbSNP:rs2272571)"
FT /id="VAR_037960"
FT VARIANT 2111
FT /note="N -> Y (in DFNB3; family from Bengkala;
FT dbSNP:rs121908966)"
FT /evidence="ECO:0000269|PubMed:9603736"
FT /id="VAR_010303"
FT VARIANT 2113
FT /note="I -> F (in DFNB3; Indian family; dbSNP:rs121908965)"
FT /evidence="ECO:0000269|PubMed:9603736"
FT /id="VAR_010304"
FT VARIANT 2205
FT /note="T -> I (associated with moderately severe
FT sensorineural hearing loss (DFNB3) in a Smith-Magenis
FT syndrome patient; dbSNP:rs121908970)"
FT /evidence="ECO:0000269|PubMed:11735029"
FT /id="VAR_037961"
FT VARIANT 2490
FT /note="A -> T (in dbSNP:rs16960959)"
FT /id="VAR_037962"
FT VARIANT 2682
FT /note="Y -> F (in dbSNP:rs712270)"
FT /id="VAR_037963"
FT VARIANT 2716
FT /note="Q -> H (in DFNB3; dbSNP:rs121908969)"
FT /evidence="ECO:0000269|PubMed:11735029"
FT /id="VAR_037964"
FT CONFLICT 595
FT /note="A -> T (in Ref. 2; AAF05903/AF051976)"
FT /evidence="ECO:0000305"
FT CONFLICT 718
FT /note="W -> G (in Ref. 2; AAF05903/AF051976)"
FT /evidence="ECO:0000305"
FT CONFLICT 1646
FT /note="C -> R (in Ref. 2; AAF05903)"
FT /evidence="ECO:0000305"
FT CONFLICT 2468
FT /note="E -> G (in Ref. 2; AAF05903)"
FT /evidence="ECO:0000305"
FT STRAND 3526..3530
FT /evidence="ECO:0007829|PDB:6KZ1"
SQ SEQUENCE 3530 AA; 395293 MW; DCCFBAD37BEA6309 CRC64;
MAKEEDEEKK AKKGKKGKKA PEPEKPKRSL KGTSRLFMGF RDRTPKISKK GQFRSASAFF
WGLHTGPQKT KRKRKARTVL KSTSKLMTQM RMGKKKRAMK GKKPSFMVIR FPGRRGYGRL
RPRARSLSKA STAINWLTKK FLLKKAEESG SEQATVDAWL QRSSSRMGSR KLPFPSGAEI
LRPGGRLRRF PRSRSIYASG EPLGFLPFED EAPFHHSGSR KSLYGLEGFQ DLGEYYDYHR
DGDDYYDRQS LHRYEEQEPY LAGLGPYSPA WPPYGDHYYG YPPEDPYDYY HPDYYGGPFD
PGYTYGYGYD DYEPPYAPPS GYSSPYSYHD GYEGEAHPYG YYLDPYAPYD APYPPYDLPY
HTPYDVPYFD PYGVHYTVPY AEGVYGGGDE AIYPPEVPYF YPEESASAFV YPWVPPPIPS
PHNPYAHAMD DIAELEEPED AGVERQGTSF RLPSAAFFEQ QGMDKPARSK LSLIRKFRLF
PRPQVKLFGK EKLEVPLPPS LDIPLPLGDA DEEEDEEELP PVSAVPYGHP FWGFLTPRQR
NLQRALSAFG AHRGLGFGPE FGRPVPRPAT SLARFLKKTL SEKKPIARLR GSQKARAGGP
AVREAAYKRF GYKLAGMDPE KPGTPIVLRR AQPRARSSND ARRPPAPQPA PRTLSHWSAL
LSPPVPPRPP SSGPPPAPPL SPALSGLPRP ASPYGSLRRH PPPWAAPAHV PPAPQASWWA
FVEPPAVSPE VPPDLLAFPG PRPSFRGSRR RGAAFGFPGA SPRASRRRAW SPLASPQPSL
RSSPGLGYCS PLAPPSPQLS LRTGPFQPPF LPPARRPRSL QESPAPRRAA GRLGPPGSPL
PGSPRPPSPP LGLCHSPRRS SLNLPSRLPH TWRRLSEPPT RAVKPQVRLP FHRPPRAGAW
RAPLEHRESP REPEDSETPW TVPPLAPSWD VDMPPTQRPP SPWPGGAGSR RGFSRPPPVP
ENPFLQLLGP VPSPTLQPED PAADMTRVFL GRHHEPGPGQ LTKSAGPTPE KPEEEATLGD
PQLPAETKPP TPAPPKDVTP PKDITPPKDV LPEQKTLRPS LSYPLAACDQ TRATWPPWHR
WGTLPQAAAP LAPIRAPEPL PKGGERRQAA PGRFAVVMPR VQKLSSFQRV GPATLKPQVQ
PIQDPKPRAC SLRWSCLWLR ADAYGPWPRV HTHPQSCHLG PGAACLSLRG SWEEVGPPSW
RNKMHSIRNL PSMRFREQHG EDGVEDMTQL EDLQETTVLS NLKIRFERNL IYTYIGSILV
SVNPYQMFGI YGPEQVQQYN GRALGENPPH LFAVANLAFA KMLDAKQNQC IIISGESGSG
KTEATKLILR YLAAMNQKRE VMQQIKILEA TPLLESFGNA KTVRNDNSSR FGKFVEIFLE
GGVISGAITS QYLLEKSRIV FQAKNERNYH IFYELLAGLP AQLRQAFSLQ EAETYYYLNQ
GGNCEIAGKS DADDFRRLLA AMEVLGFSSE DQDSIFRILA SILHLGNVYF EKYETDAQEV
ASVVSAREIQ AVAELLQISP EGLQKAITFK VTETMREKIF TPLTVESAVD ARDAIAKVLY
ALLFSWLITR VNALVSPRQD TLSIAILDIY GFEDLSFNSF EQLCINYANE NLQYLFNKIV
FQEEQEEYIR EQIDWQEITF ADNQPCINLI SLKPYGILRI LDDQCCFPQA TDHTFLQKCH
YHHGANPLYS KPKMPLPEFT IKHYAGKVTY QVHKFLDKNH DQVRQDVLDL FVRSRTRVVA
HLFSSHAPQA APQRLGKSSS VTRLYKAHTV AAKFQQSLLD LVEKMERCNP LFMRCLKPNH
KKEPGLFEPD VVMAQLRYSG VLETVRIRKE GFPVRLPFQG FIDRYCCLVA LKHDLPANGD
MCVSVLSRLC KVMPNMYRVG VSKLFLKEHL YQLLESMREH VLNLAALTLQ RCLRGFFIKR
RFRSLRHKII LLQSRARGYL ARQRYQQMRR SLVKFRSLVH AYVSRRRYLK LRAEWRCQVE
GALLWEQEEL SKREVVAVGH LEVPAELAGL LQAVAGLGLA QVPQVAPVRT PRLQAEPRVT
LPLDINNYPM AKFVQCHFKE PAFGMLTVPL RTPLTQLPAE HHAEAVSIFK LILRFMGDPH
LHGARENIFG NYIVQKGLAV PELRDEILAQ LANQVWHNHN AHNAERGWLL LAACLSGFAP
SPCFNKYLLK FVSDYGRNGF QAVCQHRLMQ AMGRAQQQGS GAARTLPPTQ LEWTATYEKA
SMALDVGCFN GDQFSCPVHS WSTGEEVAGD ILRHRGLADG WRGWTVAMKN GVQWAELAGH
DYVLDLVSDL ELLRDFPRQK SYFIVGTEGP AASRGGPKVV FGNSWDSDED MSTRPQPQEH
MPKVLDSDGY SSHNQDGTNG ETEAQRGTAT HQESDSLGEP AVPHKGLDCY LDSLFDPVLS
YGDADLEKPT AIAYRMKGGG QPGGGSSSGT EDTPRRPPEP KPIPGLDAST LALQQAFIHK
QAVLLAREMT LQATALQQQP LSAALRSLPA EKPPAPEAQP TSVGTGPPAK PVLLRATPKP
LAPAPLAKAP RLPIKPVAAP VLAQDQASPE TTSPSPELVR YSTLNSEHFP QPTQQIKNIV
RQYQQPFRGG RPEALRKDGG KVFMKRPDPH EEALMILKGQ MTHLAAAPGT QVSREAVALV
KPVTSAPRPS MAPTSALPSR SLEPPEELTQ TRLHRLINPN FYGYQDAPWK IFLRKEVFYP
KDSYSHPVQL DLLFRQILHD TLSEACLRIS EDERLRMKAL FAQNQLDTQK PLVTESVKRA
VVSTARDTWE VYFSRIFPAT GSVGTGVQLL AVSHVGIKLL RMVKGGQEAG GQLRVLRAYS
FADILFVTMP SQNMLEFNLA SEKVILFSAR AHQVKTLVDD FILELKKDSD YVVAVRNFLP
EDPALLAFHK GDIIHLQPLE PPRVGYSAGC VVRRKVVYLE ELRRRGPDFG WRFGTIHGRV
GRFPSELVQP AAAPDFLQLP TEPGRGRAAA VAAAVASAAA AQEVGRRREG PPVRARSADH
GEDALALPPY TMLEFAQKYF RDPQRRPQDG LRLKSKEPRE SRTLEDMLCF TKTPLQESLI
ELSDSSLSKM ATDMFLAVMR FMGDAPLKGQ SDLDVLCNLL KLCGDHEVMR DECYCQVVKQ
ITDNTSSKQD SCQRGWRLLY IVTAYHSCSE VLHPHLTRFL QDVSRTPGLP FQGIAKACEQ
NLQKTLRFGG RLELPSSIEL RAMLAGRSSK RQLFLLPGGL ERHLKIKTCT VALDVVEEIC
AEMALTRPEA FNEYVIFVVT NRGQHVCPLS RRAYILDVAS EMEQVDGGYM LWFRRVLWDQ
PLKFENELYV TMHYNQVLPD YLKGLFSSVP ASRPSEQLLQ QVSKLASLQH RAKDHFYLPS
VREVQEYIPA QLYRTTAGST WLNLVSQHRQ QTQALSPHQA RAQFLGLLSA LPMFGSSFFF
IQSCSNIAVP APCILAINHN GLNFLSTETH ELMVKFPLKE IQSTRTQRPT ANSSYPYVEI
ALGDVAAQRT LQLQLEQGLE LCRVVAVHVE NLLSAHEKRL TLPPSEITLL
