VSX1_HUMAN
ID VSX1_HUMAN Reviewed; 365 AA.
AC Q9NZR4; B9EGJ4; D1MF28; Q0GM60; Q0GM61; Q0GM62; Q0GM63; Q0GM64; Q0GM65;
AC Q5TF40; Q5TF41; Q9HCU3; Q9NU27;
DT 08-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 2.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Visual system homeobox 1;
DE AltName: Full=Homeodomain protein RINX;
DE AltName: Full=Retinal inner nuclear layer homeobox protein;
DE AltName: Full=Transcription factor VSX1;
GN Name=VSX1; Synonyms=RINX;
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), AND TISSUE SPECIFICITY.
RC TISSUE=Craniofacial;
RX PubMed=10673340; DOI=10.1006/geno.1999.6093;
RA Semina E.V., Mintz-Hittner H.A., Murray J.C.;
RT "Isolation and characterization of a novel human paired-like homeodomain-
RT containing transcription factor gene, VSX1, expressed in ocular tissues.";
RL Genomics 63:289-293(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), FUNCTION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Retina;
RX PubMed=10903837; DOI=10.1006/geno.2000.6248;
RA Hayashi T., Huang J., Deeb S.S.;
RT "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of
RT the adult retina.";
RL Genomics 67:128-139(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 5; 6; 7 AND 8), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Retina;
RX PubMed=18253095;
RA Hosseini S.M., Herd S., Vincent A.L., Heon E.;
RT "Genetic analysis of chromosome 20-related posterior polymorphous corneal
RT dystrophy: genetic heterogeneity and exclusion of three candidate genes.";
RL Mol. Vis. 14:71-80(2008).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 168-186 (ISOFORMS 1/2/3/5/6/7/8), AND
RP VARIANT KTCN1 HIS-175.
RX PubMed=19956409;
RA Paliwal P., Singh A., Tandon R., Titiyal J.S., Sharma A.;
RT "A novel VSX1 mutation identified in an individual with keratoconus in
RT India.";
RL Mol. Vis. 15:2475-2479(2009).
RN [7]
RP TISSUE SPECIFICITY, VARIANTS KTCN1 MET-159; ASP-160; TRP-166; ARG-244 AND
RP ARG-247, AND VARIANT GLU-144.
RX PubMed=11978762; DOI=10.1093/hmg/11.9.1029;
RA Heon E., Greenberg A., Kopp K.K., Rootman D., Vincent A.L., Billingsley G.,
RA Priston M., Dorval K.M., Chow R.L., McInnes R.R., Heathcote G., Westall C.,
RA Sutphin J.E., Semina E., Bremner R., Stone E.M.;
RT "VSX1: a gene for posterior polymorphous dystrophy and keratoconus.";
RL Hum. Mol. Genet. 11:1029-1036(2002).
RN [8]
RP VARIANT CAASDS SER-256, AND VARIANT SER-131.
RX PubMed=15051220; DOI=10.1016/j.ophtha.2003.07.006;
RA Mintz-Hittner H.A., Semina E.V., Frishman L.J., Prager T.C., Murray J.C.;
RT "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal
RT endothelial changes, and abnormal retinal and auditory bipolar cells.";
RL Ophthalmology 111:828-836(2004).
RN [9]
RP VARIANTS KTCN1 PRO-17; ASP-160 AND ARG-247, AND VARIANT GLU-144.
RX PubMed=15623752; DOI=10.1167/iovs.04-0533;
RA Bisceglia L., Ciaschetti M., De Bonis P., Campo P.A., Pizzicoli C.,
RA Scala C., Grifa M., Ciavarella P., Delle Noci N., Vaira F., Macaluso C.,
RA Zelante L.;
RT "VSX1 mutational analysis in a series of Italian patients affected by
RT keratoconus: detection of a novel mutation.";
RL Invest. Ophthalmol. Vis. Sci. 46:39-45(2005).
RN [10]
RP VARIANT KTCN1 MET-159, AND VARIANT ARG-244.
RX PubMed=18216574; DOI=10.1097/ico.0b013e31815a50e7;
RA Tang Y.G., Picornell Y., Su X., Li X., Yang H., Rabinowitz Y.S.;
RT "Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated
RT with keratoconus.";
RL Cornea 27:189-192(2008).
RN [11]
RP VARIANT GLU-144, AND VARIANT KTCN1 ASP-160.
RX PubMed=19763142; DOI=10.1038/eye.2009.217;
RA Dash D.P., George S., O'Prey D., Burns D., Nabili S., Donnelly U.,
RA Hughes A.E., Silvestri G., Jackson J., Frazer D., Heon E., Willoughby C.E.;
RT "Mutational screening of VSX1 in keratoconus patients from the European
RT population.";
RL Eye 24:1085-1092(2010).
RN [12]
RP VARIANTS KTCN1 PRO-17; ASP-160; ARG-239 AND ARG-247, AND VARIANT GLU-144.
RX PubMed=21976959;
RA De Bonis P., Laborante A., Pizzicoli C., Stallone R., Barbano R., Longo C.,
RA Mazzilli E., Zelante L., Bisceglia L.;
RT "Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in
RT keratoconus.";
RL Mol. Vis. 17:2482-2494(2011).
CC -!- FUNCTION: Binds to the 37-bp core of the locus control region (LCR) of
CC the red/green visual pigment gene cluster (PubMed:10903837). May
CC regulate the activity of the LCR and the cone opsin genes at earlier
CC stages of development (PubMed:10903837). Dispensable in early retinal
CC development (By similarity). {ECO:0000250|UniProtKB:Q91V10,
CC ECO:0000269|PubMed:10903837}.
CC -!- INTERACTION:
CC Q9NZR4; P46379-2: BAG6; NbExp=3; IntAct=EBI-21789837, EBI-10988864;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q91V10}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=8;
CC Comment=Additional isoforms seem to exist.;
CC Name=1; Synonyms=L1;
CC IsoId=Q9NZR4-1; Sequence=Displayed;
CC Name=2; Synonyms=S1, L3;
CC IsoId=Q9NZR4-2; Sequence=VSP_002302, VSP_002303;
CC Name=3; Synonyms=S2;
CC IsoId=Q9NZR4-3; Sequence=VSP_002299, VSP_002302, VSP_002303;
CC Name=4; Synonyms=S3;
CC IsoId=Q9NZR4-4; Sequence=VSP_002300, VSP_002301;
CC Name=5;
CC IsoId=Q9NZR4-5; Sequence=VSP_039144, VSP_039146;
CC Name=6;
CC IsoId=Q9NZR4-6; Sequence=VSP_039140, VSP_039142;
CC Name=7;
CC IsoId=Q9NZR4-7; Sequence=VSP_039141, VSP_039143;
CC Name=8;
CC IsoId=Q9NZR4-8; Sequence=VSP_039145, VSP_039147;
CC -!- TISSUE SPECIFICITY: In the adult eye, expressed in lens, iris, ciliary
CC body, choroid, optical nerve head and, most strongly, in retina, but
CC not expressed in sclera and cornea. According to PubMed:11978762,
CC expressed in adult retina but not in lens and cornea. Within adult
CC retina, found exclusively in the inner nuclear layer. Isoform 1,
CC isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not
CC in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal
CC muscle. Not expressed in thymus and spleen. Expressed in embryonic
CC craniofacial tissue. Expressed in fetal (week 14) retina. Strongly
CC expressed in neonatal retina, weakly in neonatal lens, choroid and
CC cornea (day 1, 4; month 9). {ECO:0000269|PubMed:10673340,
CC ECO:0000269|PubMed:10903837, ECO:0000269|PubMed:11978762,
CC ECO:0000269|PubMed:18253095}.
CC -!- DISEASE: Keratoconus 1 (KTCN1) [MIM:148300]: Frequent corneal dystrophy
CC with an incidence that varies from 50 to 230 per 100'000. The cornea
CC assumes a conical shape as a result of a progressive non-inflammatory
CC thinning of the corneal stroma. Keratoconus is most often an isolated
CC sporadic condition with cases of autosomal dominant and autosomal
CC recessive transmission. {ECO:0000269|PubMed:11978762,
CC ECO:0000269|PubMed:15623752, ECO:0000269|PubMed:18216574,
CC ECO:0000269|PubMed:19763142, ECO:0000269|PubMed:19956409,
CC ECO:0000269|PubMed:21976959}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Craniofacial anomalies and anterior segment dysgenesis
CC syndrome (CAASDS) [MIM:614195]: A disorder with extremely variable
CC expressivity. Clinical features include wide interpupillary distance,
CC abnormal corneal endothelium, unusual pinnae, partially to completely
CC empty sella turcica, posterior fossa cyst, anterior encephalocele,
CC and/or hydrocephalus. {ECO:0000269|PubMed:15051220}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: Major form.
CC -!- MISCELLANEOUS: [Isoform 2]: Major form. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Minor form. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: Minor form. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; AF176797; AAF37425.2; -; mRNA.
DR EMBL; AF251033; AAF99656.1; -; mRNA.
DR EMBL; AF251034; AAF99657.1; -; mRNA.
DR EMBL; DQ854807; ABI23973.1; -; mRNA.
DR EMBL; DQ854808; ABI23974.1; -; mRNA.
DR EMBL; DQ854809; ABI23975.1; -; mRNA.
DR EMBL; DQ854810; ABI23976.1; -; mRNA.
DR EMBL; DQ854811; ABI23977.1; -; mRNA.
DR EMBL; DQ854812; ABI23978.1; -; mRNA.
DR EMBL; AL080312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126228; AAI26229.1; -; mRNA.
DR EMBL; BC136497; AAI36498.1; -; mRNA.
DR EMBL; GU138372; ACZ01961.1; -; Genomic_DNA.
DR CCDS; CCDS13168.1; -. [Q9NZR4-1]
DR CCDS; CCDS13169.1; -. [Q9NZR4-2]
DR CCDS; CCDS58766.1; -. [Q9NZR4-7]
DR CCDS; CCDS58767.1; -. [Q9NZR4-8]
DR RefSeq; NP_001243200.1; NM_001256271.1. [Q9NZR4-7]
DR RefSeq; NP_001243201.1; NM_001256272.1. [Q9NZR4-8]
DR RefSeq; NP_055403.2; NM_014588.5. [Q9NZR4-1]
DR RefSeq; NP_955457.1; NM_199425.2. [Q9NZR4-2]
DR RefSeq; XP_016883326.1; XM_017027837.1. [Q9NZR4-5]
DR RefSeq; XP_016883327.1; XM_017027838.1. [Q9NZR4-6]
DR AlphaFoldDB; Q9NZR4; -.
DR SMR; Q9NZR4; -.
DR BioGRID; 119037; 68.
DR IntAct; Q9NZR4; 61.
DR STRING; 9606.ENSP00000365899; -.
DR iPTMnet; Q9NZR4; -.
DR PhosphoSitePlus; Q9NZR4; -.
DR BioMuta; VSX1; -.
DR DMDM; 25009572; -.
DR MassIVE; Q9NZR4; -.
DR PaxDb; Q9NZR4; -.
DR PeptideAtlas; Q9NZR4; -.
DR PRIDE; Q9NZR4; -.
DR ProteomicsDB; 83493; -. [Q9NZR4-1]
DR ProteomicsDB; 83497; -. [Q9NZR4-5]
DR ProteomicsDB; 83500; -. [Q9NZR4-8]
DR Antibodypedia; 9932; 155 antibodies from 23 providers.
DR DNASU; 30813; -.
DR Ensembl; ENST00000376707.4; ENSP00000365897.3; ENSG00000100987.15. [Q9NZR4-2]
DR Ensembl; ENST00000376709.9; ENSP00000365899.3; ENSG00000100987.15. [Q9NZR4-1]
DR Ensembl; ENST00000409285.6; ENSP00000386612.2; ENSG00000100987.15. [Q9NZR4-5]
DR Ensembl; ENST00000409958.6; ENSP00000387069.2; ENSG00000100987.15. [Q9NZR4-6]
DR Ensembl; ENST00000429762.7; ENSP00000401690.3; ENSG00000100987.15. [Q9NZR4-8]
DR Ensembl; ENST00000444511.6; ENSP00000387720.2; ENSG00000100987.15. [Q9NZR4-7]
DR GeneID; 30813; -.
DR KEGG; hsa:30813; -.
DR MANE-Select; ENST00000376709.9; ENSP00000365899.3; NM_014588.6; NP_055403.2.
DR UCSC; uc002wuf.5; human. [Q9NZR4-1]
DR CTD; 30813; -.
DR DisGeNET; 30813; -.
DR GeneCards; VSX1; -.
DR HGNC; HGNC:12723; VSX1.
DR HPA; ENSG00000100987; Group enriched (brain, retina).
DR MalaCards; VSX1; -.
DR MIM; 148300; phenotype.
DR MIM; 605020; gene.
DR MIM; 614195; phenotype.
DR neXtProt; NX_Q9NZR4; -.
DR OpenTargets; ENSG00000100987; -.
DR Orphanet; 2335; NON RARE IN EUROPE: Isolated keratoconus.
DR Orphanet; 98973; Posterior polymorphous corneal dystrophy.
DR PharmGKB; PA37334; -.
DR VEuPathDB; HostDB:ENSG00000100987; -.
DR eggNOG; KOG0494; Eukaryota.
DR GeneTree; ENSGT00940000160793; -.
DR HOGENOM; CLU_049243_1_1_1; -.
DR InParanoid; Q9NZR4; -.
DR OMA; WGSDHLK; -.
DR OrthoDB; 1348807at2759; -.
DR PhylomeDB; Q9NZR4; -.
DR TreeFam; TF350743; -.
DR PathwayCommons; Q9NZR4; -.
DR SignaLink; Q9NZR4; -.
DR BioGRID-ORCS; 30813; 12 hits in 1093 CRISPR screens.
DR GeneWiki; VSX1; -.
DR GenomeRNAi; 30813; -.
DR Pharos; Q9NZR4; Tbio.
DR PRO; PR:Q9NZR4; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NZR4; protein.
DR Bgee; ENSG00000100987; Expressed in cerebellar hemisphere and 79 other tissues.
DR Genevisible; Q9NZR4; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IBA:GO_Central.
DR GO; GO:0048666; P:neuron development; IBA:GO_Central.
DR GO; GO:0042551; P:neuron maturation; IEA:Ensembl.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0060040; P:retinal bipolar neuron differentiation; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR023339; CVC.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS51496; CVC; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Corneal dystrophy; Developmental protein;
KW Disease variant; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Sensory transduction; Transcription; Transcription regulation; Vision.
FT CHAIN 1..365
FT /note="Visual system homeobox 1"
FT /id="PRO_0000049355"
FT DOMAIN 224..277
FT /note="CVC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00829"
FT DNA_BIND 164..223
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..37
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 113..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 290..365
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 31..38
FT /note="Octapeptide motif"
FT MOTIF 161..166
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT COMPBIAS 1..15
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 136..158
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..315
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 141
FT /note="S -> SGNQARAFRSCPCPLGSEPRRGHRPSPHRTPGPSGPDLGGEPRARPR
FT RGRGIRGAAPPAPCCILNPCLSSGVLFPQRCETATTWFRVEPFDETLGSSTTISRGPFF
FT PPAPGASLRLWQLRGSGRPGPVVVTSSTEQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10903837"
FT /id="VSP_002299"
FT VAR_SEQ 142..143
FT /note="DE -> AM (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:10903837"
FT /id="VSP_002300"
FT VAR_SEQ 144..365
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:10903837"
FT /id="VSP_002301"
FT VAR_SEQ 210..236
FT /note="VWFQNRRAKWRKREKRWGGSSVMAEYG -> CKLLLLEAPVHWTLQETHRLP
FT RPRGGA (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039141"
FT VAR_SEQ 210..218
FT /note="VWFQNRRAK -> RVRHWAAEK (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039140"
FT VAR_SEQ 211..239
FT /note="WFQNRRAKWRKREKRWGGSSVMAEYGLYG -> SGVPFLRSKDTTENVSFPH
FT SVSQSAVPSL (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:10903837,
FT ECO:0000303|PubMed:18253095"
FT /id="VSP_002302"
FT VAR_SEQ 219..365
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039142"
FT VAR_SEQ 237..365
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039143"
FT VAR_SEQ 240..365
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:10903837,
FT ECO:0000303|PubMed:18253095"
FT /id="VSP_002303"
FT VAR_SEQ 270..301
FT /note="GMHKKSMGMIRKPGSEDKLAGLWGSDHFKEGS -> VQTSAPGGSRSLDFAG
FT DTQAPQTPWWCLMTFS (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039145"
FT VAR_SEQ 270..280
FT /note="GMHKKSMGMIR -> EGETLGCREMK (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039144"
FT VAR_SEQ 281..365
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039146"
FT VAR_SEQ 302..365
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:18253095"
FT /id="VSP_039147"
FT VARIANT 17
FT /note="L -> P (in KTCN1; dbSNP:rs74315436)"
FT /evidence="ECO:0000269|PubMed:15623752,
FT ECO:0000269|PubMed:21976959"
FT /id="VAR_066670"
FT VARIANT 131
FT /note="R -> S (in dbSNP:rs6050307)"
FT /evidence="ECO:0000269|PubMed:15051220"
FT /id="VAR_066671"
FT VARIANT 144
FT /note="D -> E (in dbSNP:rs140122268)"
FT /evidence="ECO:0000269|PubMed:11978762,
FT ECO:0000269|PubMed:15623752, ECO:0000269|PubMed:19763142,
FT ECO:0000269|PubMed:21976959"
FT /id="VAR_014243"
FT VARIANT 159
FT /note="L -> M (in KTCN1; unknown pathological significance;
FT dbSNP:rs74315434)"
FT /evidence="ECO:0000269|PubMed:11978762,
FT ECO:0000269|PubMed:18216574"
FT /id="VAR_014244"
FT VARIANT 160
FT /note="G -> D (in KTCN1; unknown pathological significance;
FT dbSNP:rs74315433)"
FT /evidence="ECO:0000269|PubMed:11978762,
FT ECO:0000269|PubMed:15623752, ECO:0000269|PubMed:19763142,
FT ECO:0000269|PubMed:21976959"
FT /id="VAR_014245"
FT VARIANT 166
FT /note="R -> W (in KTCN1; sporadic; dbSNP:rs74315432)"
FT /evidence="ECO:0000269|PubMed:11978762"
FT /id="VAR_014246"
FT VARIANT 175
FT /note="Q -> H (in KTCN1; dbSNP:rs771561481)"
FT /evidence="ECO:0000269|PubMed:19956409"
FT /id="VAR_063100"
FT VARIANT 239
FT /note="G -> R (in KTCN1; unknown pathological significance;
FT dbSNP:rs749663315)"
FT /evidence="ECO:0000269|PubMed:21976959"
FT /id="VAR_076692"
FT VARIANT 244
FT /note="H -> R (in KTCN1; unknown pathological significance;
FT dbSNP:rs148957473)"
FT /evidence="ECO:0000269|PubMed:11978762,
FT ECO:0000269|PubMed:18216574"
FT /id="VAR_014247"
FT VARIANT 247
FT /note="P -> R (in KTCN1; unknown pathological significance;
FT also in a patient with retinal dysfunction;
FT dbSNP:rs576300014)"
FT /evidence="ECO:0000269|PubMed:11978762,
FT ECO:0000269|PubMed:15623752, ECO:0000269|PubMed:21976959"
FT /id="VAR_014248"
FT VARIANT 256
FT /note="A -> S (in CAASDS; dbSNP:rs74315435)"
FT /evidence="ECO:0000269|PubMed:15051220"
FT /id="VAR_066672"
SQ SEQUENCE 365 AA; 38431 MW; C58BE94767D66FCB CRC64;
MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG QGSGCEGPAV
APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC LLLADVPFLP PRGPEPAAPL
APSRPPPALG RQKRSDSVST SDEDSQSEDR NDLKASPTLG KRKKRRHRTV FTAHQLEELE
KAFSEAHYPD VYAREMLAVK TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA
MVRHCIPLPD SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG
SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN STALEGPQPG
KVGAT
