PDZD7_HUMAN
ID PDZD7_HUMAN Reviewed; 1033 AA.
AC Q9H5P4; D5FJ77; Q8N321;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-DEC-2018, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=PDZ domain-containing protein 7 {ECO:0000305};
GN Name=PDZD7 {ECO:0000312|HGNC:HGNC:26257};
GN Synonyms=PDZK7 {ECO:0000312|HGNC:HGNC:26257};
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 [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, INTERACTION WITH ADGRV1 AND USH2A, INVOLVEMENT IN USH2A AND
RP USH2C, AND ALTERNATIVE SPLICING.
RX PubMed=20440071; DOI=10.1172/jci39715;
RA Ebermann I., Phillips J.B., Liebau M.C., Koenekoop R.K., Schermer B.,
RA Lopez I., Schafer E., Roux A.F., Dafinger C., Bernd A., Zrenner E.,
RA Claustres M., Blanco B., Nurnberg G., Nurnberg P., Ruland R.,
RA Westerfield M., Benzing T., Bolz H.J.;
RT "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher
RT syndrome.";
RL J. Clin. Invest. 120:1812-1823(2010).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP STRUCTURE BY NMR OF 76-170.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of first PDZ domain of PDZ domain containing protein
RT 7.";
RL Submitted (AUG-2007) to the PDB data bank.
RN [7]
RP INVOLVEMENT IN DFNB57, TISSUE SPECIFICITY, INTERACTION WITH USH1G, AND
RP CHROMOSOMAL TRANSLOCATION.
RX PubMed=19028668; DOI=10.1093/hmg/ddn395;
RA Schneider E., Marker T., Daser A., Frey-Mahn G., Beyer V., Farcas R.,
RA Schneider-Ratzke B., Kohlschmidt N., Grossmann B., Bauss K., Napiontek U.,
RA Keilmann A., Bartsch O., Zechner U., Wolfrum U., Haaf T.;
RT "Homozygous disruption of PDZD7 by reciprocal translocation in a
RT consanguineous family: a new member of the Usher syndrome protein
RT interactome causing congenital hearing impairment.";
RL Hum. Mol. Genet. 18:655-666(2009).
RN [8]
RP INVOLVEMENT IN DFNB57, AND VARIANTS DFNB57 ARG-103; ARG-228; ARG-285;
RP 500-TYR--GLY-517 DEL AND 526-GLN--PRO-1033 DEL.
RX PubMed=26416264; DOI=10.1002/ajmg.a.37274;
RA Booth K.T., Azaiez H., Kahrizi K., Simpson A.C., Tollefson W.T.,
RA Sloan C.M., Meyer N.C., Babanejad M., Ardalani F., Arzhangi S.,
RA Schnieders M.J., Najmabadi H., Smith R.J.;
RT "PDZD7 and hearing loss: More than just a modifier.";
RL Am. J. Med. Genet. A 167A:2957-2965(2015).
RN [9]
RP INVOLVEMENT IN DFNB57, AND VARIANT DFNB57 550-GLN--PRO-1033 DEL.
RX PubMed=26849169; DOI=10.1097/aud.0000000000000278;
RA Vona B., Lechno S., Hofrichter M.A., Hopf S., Laeig A.K., Haaf T.,
RA Keilmann A., Zechner U., Bartsch O.;
RT "Confirmation of PDZD7 as a nonsyndromic hearing loss gene.";
RL Ear Hear. 37:E238-E246(2016).
RN [10]
RP INVOLVEMENT IN DFNB57, AND VARIANT DFNB57 LEU-66.
RX PubMed=29048736; DOI=10.1002/ajmg.a.38477;
RA Guan J., Wang H., Lan L., Wang L., Yang J., Xie L., Yin Z., Xiong W.,
RA Zhao L., Wang D., Wang Q.;
RT "Novel recessive PDZD7 biallelic mutations in two Chinese families with
RT non-syndromic hearing loss.";
RL Am. J. Med. Genet. A 176:99-106(2018).
CC -!- FUNCTION: In cochlear developing hair cells, essential in organizing
CC the USH2 complex at stereocilia ankle links. Blocks inhibition of
CC adenylate cyclase activity mediated by ADGRV1.
CC {ECO:0000250|UniProtKB:E9Q9W7}.
CC -!- SUBUNIT: Homodimerizes (via PDZ2 domain). Component of USH2 complex,
CC composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts (via PDZ domains)
CC with WHRN; the interaction is direct (By similarity). Interacts with
CC USH1G (PubMed:19028668). Interacts with ADGRV1 (via the cytoplasmic
CC region) (PubMed:20440071). Interacts with USH2A (via the cytoplasmic
CC region) (PubMed:20440071). Interacts with MYO7A (via MyTH4-FERM
CC domains) (By similarity). {ECO:0000250|UniProtKB:E9Q9W7,
CC ECO:0000269|PubMed:19028668, ECO:0000269|PubMed:20440071}.
CC -!- INTERACTION:
CC Q9H5P4; Q8WXG9: ADGRV1; NbExp=3; IntAct=EBI-20859318, EBI-7851128;
CC Q9H5P4; O75445: USH2A; NbExp=2; IntAct=EBI-20859318, EBI-9996372;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:20440071}. Nucleus {ECO:0000269|PubMed:20440071}.
CC Cell projection, stereocilium {ECO:0000250|UniProtKB:E9Q9W7}.
CC Note=Localizes at the ankle region of the stereocilia.
CC {ECO:0000250|UniProtKB:E9Q9W7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H5P4-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H5P4-1; Sequence=VSP_059942, VSP_059943;
CC Name=3;
CC IsoId=Q9H5P4-2; Sequence=VSP_059941;
CC -!- TISSUE SPECIFICITY: Weakly expressed in the inner ear. Expressed in the
CC retinal pigment epithelium. {ECO:0000269|PubMed:19028668,
CC ECO:0000269|PubMed:20440071}.
CC -!- DISEASE: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]: A
CC form of non-syndromic, sensorineural deafness characterized by
CC symmetric, bilateral hearing loss with onset in early childhood.
CC Vestibular function is preserved. Sensorineural deafness results from
CC damage to the neural receptors of the inner ear, the nerve pathways to
CC the brain, or the area of the brain that receives sound information.
CC DFNB57 severity ranges from moderate to severe.
CC {ECO:0000269|PubMed:19028668, ECO:0000269|PubMed:26416264,
CC ECO:0000269|PubMed:26849169, ECO:0000269|PubMed:29048736}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Note=A chromosomal aberration disrupting PDZD7 has been found
CC in patients with non-syndromic sensorineural deafness. Translocation
CC t(10;11),t(10;11). {ECO:0000269|PubMed:19028668}.
CC -!- DISEASE: Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically
CC heterogeneous condition characterized by the association of retinitis
CC pigmentosa with sensorineural deafness. Age at onset and differences in
CC auditory and vestibular function distinguish Usher syndrome type 1
CC (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
CC USH2 is characterized by congenital mild hearing impairment with normal
CC vestibular responses. {ECO:0000269|PubMed:20440071}. Note=The disease
CC is caused by variants affecting distinct genetic loci, including the
CC gene represented in this entry. A PDZD7 mutation has been found in
CC combination with a mutation in ADGRV1 in a patient affected by Usher
CC syndrome, suggesting PDZD7 mutations contribute to digenic Usher
CC syndrome. {ECO:0000269|PubMed:20440071}.
CC -!- DISEASE: Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically
CC heterogeneous condition characterized by the association of retinitis
CC pigmentosa with sensorineural deafness. Age at onset and differences in
CC auditory and vestibular function distinguish Usher syndrome type 1
CC (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
CC USH2 is characterized by congenital mild hearing impairment with normal
CC vestibular responses. {ECO:0000269|PubMed:20440071}. Note=The gene
CC represented in this entry acts as a disease modifier.
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DR EMBL; FJ617449; ACU45386.1; -; mRNA.
DR EMBL; AK026862; BAB15577.1; -; mRNA.
DR EMBL; AL133215; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029054; AAH29054.1; -; mRNA.
DR CCDS; CCDS31269.1; -. [Q9H5P4-1]
DR CCDS; CCDS73182.1; -. [Q9H5P4-3]
DR RefSeq; NP_001182192.1; NM_001195263.1. [Q9H5P4-3]
DR RefSeq; NP_079171.1; NM_024895.4. [Q9H5P4-1]
DR RefSeq; XP_011538479.1; XM_011540177.2. [Q9H5P4-3]
DR PDB; 2EEH; NMR; -; A=81-167.
DR PDBsum; 2EEH; -.
DR AlphaFoldDB; Q9H5P4; -.
DR SMR; Q9H5P4; -.
DR BioGRID; 123024; 9.
DR ComplexPortal; CPX-2821; USH2 complex.
DR CORUM; Q9H5P4; -.
DR IntAct; Q9H5P4; 4.
DR STRING; 9606.ENSP00000480489; -.
DR iPTMnet; Q9H5P4; -.
DR PhosphoSitePlus; Q9H5P4; -.
DR BioMuta; PDZD7; -.
DR DMDM; 73621380; -.
DR jPOST; Q9H5P4; -.
DR MassIVE; Q9H5P4; -.
DR PaxDb; Q9H5P4; -.
DR PeptideAtlas; Q9H5P4; -.
DR PRIDE; Q9H5P4; -.
DR Antibodypedia; 31245; 57 antibodies from 13 providers.
DR DNASU; 79955; -.
DR Ensembl; ENST00000370215.7; ENSP00000359234.3; ENSG00000186862.20. [Q9H5P4-1]
DR Ensembl; ENST00000619208.6; ENSP00000480489.1; ENSG00000186862.20. [Q9H5P4-3]
DR GeneID; 79955; -.
DR KEGG; hsa:79955; -.
DR MANE-Select; ENST00000619208.6; ENSP00000480489.1; NM_001195263.2; NP_001182192.1.
DR UCSC; uc001kso.3; human. [Q9H5P4-3]
DR CTD; 79955; -.
DR DisGeNET; 79955; -.
DR GeneCards; PDZD7; -.
DR HGNC; HGNC:26257; PDZD7.
DR HPA; ENSG00000186862; Group enriched (brain, intestine, pituitary gland).
DR MalaCards; PDZD7; -.
DR MIM; 276901; phenotype.
DR MIM; 605472; phenotype.
DR MIM; 612971; gene.
DR MIM; 618003; phenotype.
DR neXtProt; NX_Q9H5P4; -.
DR OpenTargets; ENSG00000186862; -.
DR Orphanet; 231178; Usher syndrome type 2.
DR PharmGKB; PA142671189; -.
DR VEuPathDB; HostDB:ENSG00000186862; -.
DR eggNOG; KOG3528; Eukaryota.
DR GeneTree; ENSGT00950000183002; -.
DR HOGENOM; CLU_304541_0_0_1; -.
DR InParanoid; Q9H5P4; -.
DR OMA; REHPPHG; -.
DR OrthoDB; 168224at2759; -.
DR PhylomeDB; Q9H5P4; -.
DR TreeFam; TF325033; -.
DR PathwayCommons; Q9H5P4; -.
DR SignaLink; Q9H5P4; -.
DR BioGRID-ORCS; 79955; 14 hits in 1074 CRISPR screens.
DR EvolutionaryTrace; Q9H5P4; -.
DR GenomeRNAi; 79955; -.
DR Pharos; Q9H5P4; Tbio.
DR PRO; PR:Q9H5P4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9H5P4; protein.
DR Bgee; ENSG00000186862; Expressed in right hemisphere of cerebellum and 117 other tissues.
DR ExpressionAtlas; Q9H5P4; baseline and differential.
DR Genevisible; Q9H5P4; HS.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0002141; C:stereocilia ankle link; ISS:UniProtKB.
DR GO; GO:0002142; C:stereocilia ankle link complex; ISS:UniProtKB.
DR GO; GO:0032420; C:stereocilium; ISS:UniProtKB.
DR GO; GO:0032426; C:stereocilium tip; IBA:GO_Central.
DR GO; GO:1990696; C:USH2 complex; IEA:Ensembl.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0060117; P:auditory receptor cell development; ISS:UniProtKB.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; ISS:UniProtKB.
DR GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; ISS:UniProtKB.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0045184; P:establishment of protein localization; ISS:UniProtKB.
DR GO; GO:0060113; P:inner ear receptor cell differentiation; IC:ComplexPortal.
DR GO; GO:0007605; P:sensory perception of sound; IBA:GO_Central.
DR CDD; cd07358; HN_PDZD7_like; 1.
DR Gene3D; 2.30.42.10; -; 3.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR InterPro; IPR042786; PDZD7_HN-like.
DR Pfam; PF00595; PDZ; 3.
DR SMART; SM00228; PDZ; 3.
DR SUPFAM; SSF50156; SSF50156; 3.
DR PROSITE; PS50106; PDZ; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell projection;
KW Chromosomal rearrangement; Cilium; Deafness; Disease variant;
KW Non-syndromic deafness; Nucleus; Reference proteome; Repeat;
KW Retinitis pigmentosa; Usher syndrome.
FT CHAIN 1..1033
FT /note="PDZ domain-containing protein 7"
FT /id="PRO_0000058297"
FT DOMAIN 86..168
FT /note="PDZ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 210..293
FT /note="PDZ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 862..934
FT /note="PDZ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT REGION 323..380
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 444..464
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 754..864
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 943..1033
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 323..341
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 986..1033
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 508..1033
FT /note="AGGVGPVQKFVTWRLRRDQERGRALLSARSGSPSSQLPNVDEQVQAWESRRP
FT LIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAILDRPEKLLLLQDIRSVVA
FT PTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFYLL
FT PVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPP
FT QLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRR
FT SPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPSESGTEGTAKEAAMK
FT NPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAFLSGALQAGFELVA
FT VDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPAD
FT HLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPR
FT IP -> EMGAT (in isoform 3)"
FT /id="VSP_059941"
FT VAR_SEQ 508..517
FT /note="AGGVGPVQKF -> EMGVSPCCPG (in isoform 2)"
FT /id="VSP_059942"
FT VAR_SEQ 518..1033
FT /note="Missing (in isoform 2)"
FT /id="VSP_059943"
FT VARIANT 66
FT /note="R -> L (in DFNB57; unknown pathological
FT significance; dbSNP:rs1426679303)"
FT /evidence="ECO:0000269|PubMed:29048736"
FT /id="VAR_080820"
FT VARIANT 103
FT /note="G -> R (in DFNB57; dbSNP:rs148695069)"
FT /evidence="ECO:0000269|PubMed:26416264"
FT /id="VAR_080821"
FT VARIANT 228
FT /note="G -> R (in DFNB57; dbSNP:rs753034799)"
FT /evidence="ECO:0000269|PubMed:26416264"
FT /id="VAR_080822"
FT VARIANT 285
FT /note="M -> R (in DFNB57; dbSNP:rs1554835827)"
FT /evidence="ECO:0000269|PubMed:26416264"
FT /id="VAR_080823"
FT VARIANT 500..1033
FT /note="Missing (in DFNB57)"
FT /evidence="ECO:0000269|PubMed:26416264"
FT /id="VAR_080824"
FT VARIANT 526..1033
FT /note="Missing (in DFNB57)"
FT /evidence="ECO:0000269|PubMed:26416264"
FT /id="VAR_081066"
FT VARIANT 550..1033
FT /note="Missing (in DFNB57)"
FT /evidence="ECO:0000269|PubMed:26849169"
FT /id="VAR_081067"
FT CONFLICT 449
FT /note="Missing (in Ref. 4; AAH29054)"
FT /evidence="ECO:0000305"
FT STRAND 87..89
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 93..96
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 98..102
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 105..108
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 111..116
FT /evidence="ECO:0007829|PDB:2EEH"
FT HELIX 121..125
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 132..136
FT /evidence="ECO:0007829|PDB:2EEH"
FT HELIX 146..154
FT /evidence="ECO:0007829|PDB:2EEH"
FT STRAND 157..165
FT /evidence="ECO:0007829|PDB:2EEH"
SQ SEQUENCE 1033 AA; 111752 MW; F267D0911E73ECBC CRC64;
MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA
SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS
SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT
WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK
VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM
VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG
PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL
LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL
ARDGRREAWT LDSGSLAKTY PRLDIEKAGG VGPVQKFVTW RLRRDQERGR ALLSARSGSP
SSQLPNVDEQ VQAWESRRPL IQDLAQRLLT DDEVLAVTRH CSRYVHEGGI EDLVRPLLAI
LDRPEKLLLL QDIRSVVAPT DLGRFDSMVM LVELEAFEAL KSRAVRPPAL RPARQDTPPK
RHLITPVPDS RGGFYLLPVN GFPEEEDNGE LRERLGALKV SPSASAPRHP HKGIPPLQDV
PVDAFTPLRI ACTPPPQLPP VAPRPLRPNW LLTEPLSREH PPQSQIRGRA QSRSRSRSRS
RSRSSRGQGK SPGRRSPSPV PTPAPSMTNG RYHKPRKARP PLPRPLDGEA AKVGAKQGPS
ESGTEGTAKE AAMKNPSGEL KTVTLSKMKQ SLGISISGGI ESKVQPMVKI EKIFPGGAAF
LSGALQAGFE LVAVDGENLE QVTHQRAVDT IRRAYRNKAR EPMELVVRVP GPSPRPSPSD
SSALTDGGLP ADHLPAHQPL DAAPVPAHWL PEPPTNPQTP PTDARLLQPT PSPAPSPALQ
TPDSKPAPSP RIP
