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Q9NZR4

- VSX1_HUMAN

UniProt

Q9NZR4 - VSX1_HUMAN

Protein

Visual system homeobox 1

Gene

VSX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi164 – 22360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. neuron maturation Source: Ensembl
    2. response to stimulus Source: UniProtKB-KW
    3. retinal bipolar neuron differentiation Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW
    5. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Sensory transduction, Transcription, Transcription regulation, Vision

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Visual system homeobox 1
    Alternative name(s):
    Homeodomain protein RINX
    Retinal inner nuclear layer homeobox protein
    Transcription factor VSX1
    Gene namesi
    Name:VSX1
    Synonyms:RINX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:12723. VSX1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Corneal dystrophy, posterior polymorphous, 1 (PPCD1) [MIM:122000]: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441D → E in PPCD1 and KTCN1. 2 Publications
    Corresponds to variant rs140122268 [ dbSNP | Ensembl ].
    VAR_014243
    Natural varianti160 – 1601G → D in PPCD1; also in a patient with keratoconus; unknown pathological significance. 2 Publications
    Corresponds to variant rs74315433 [ dbSNP | Ensembl ].
    VAR_014245
    Keratoconus 1 (KTCN1) [MIM:148300]: Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171L → P in KTCN1. 1 Publication
    VAR_066670
    Natural varianti144 – 1441D → E in PPCD1 and KTCN1. 2 Publications
    Corresponds to variant rs140122268 [ dbSNP | Ensembl ].
    VAR_014243
    Natural varianti159 – 1591L → M in KTCN1. 1 Publication
    VAR_014244
    Natural varianti166 – 1661R → W in KTCN1; sporadic. 1 Publication
    VAR_014246
    Natural varianti175 – 1751Q → H in KTCN1. 1 Publication
    VAR_063100
    Natural varianti244 – 2441H → R in KTCN1; unknown pathological significance. 1 Publication
    Corresponds to variant rs148957473 [ dbSNP | Ensembl ].
    VAR_014247
    Natural varianti247 – 2471P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 2 Publications
    VAR_014248
    Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]: A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti256 – 2561A → S in CAASDS. 1 Publication
    Corresponds to variant rs74315435 [ dbSNP | Ensembl ].
    VAR_066672

    Keywords - Diseasei

    Corneal dystrophy, Disease mutation

    Organism-specific databases

    MIMi122000. phenotype.
    148300. phenotype.
    614195. phenotype.
    Orphaneti2335. Isolated keratoconus.
    98973. Posterior polymorphous corneal dystrophy.
    PharmGKBiPA37334.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 365365Visual system homeobox 1PRO_0000049355Add
    BLAST

    Proteomic databases

    PaxDbiQ9NZR4.
    PRIDEiQ9NZR4.

    PTM databases

    PhosphoSiteiQ9NZR4.

    Expressioni

    Tissue specificityi

    In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed 11978762, expressed in adult retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1, isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina (day 0), weakly in neonatal lens (day 0), choroid (day 0) and cornea (day 0, 4; month 9).4 Publications

    Gene expression databases

    BgeeiQ9NZR4.
    CleanExiHS_VSX1.
    GenevestigatoriQ9NZR4.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000365899.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZR4.
    SMRiQ9NZR4. Positions 171-220.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini224 – 27754CVCPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi31 – 388Octapeptide motif
    Motifi161 – 1666Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi44 – 12784Pro-richAdd
    BLAST
    Compositional biasi76 – 8914Gly/Leu-richAdd
    BLAST
    Compositional biasi142 – 15211Asp/Glu-rich (acidic)Add
    BLAST

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 CVC domain.PROSITE-ProRule annotation
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG237888.
    HOVERGENiHBG036251.
    InParanoidiQ9NZR4.
    KOiK09335.
    OMAiWGSDHLK.
    OrthoDBiEOG76474B.
    PhylomeDBiQ9NZR4.
    TreeFamiTF350743.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR023339. CVC.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS51496. CVC. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9NZR4-1) [UniParc]FASTAAdd to Basket

    Also known as: L1

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG    50
    QGSGCEGPAV APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC 100
    LLLADVPFLP PRGPEPAAPL APSRPPPALG RQKRSDSVST SDEDSQSEDR 150
    NDLKASPTLG KRKKRRHRTV FTAHQLEELE KAFSEAHYPD VYAREMLAVK 200
    TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA MVRHCIPLPD 250
    SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG 300
    SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN 350
    STALEGPQPG KVGAT 365

    Note: Major form.

    Length:365
    Mass (Da):38,431
    Last modified:March 1, 2001 - v2
    Checksum:iC58BE94767D66FCB
    GO
    Isoform 2 (identifier: Q9NZR4-2) [UniParc]FASTAAdd to Basket

    Also known as: S1, L3

    The sequence of this isoform differs from the canonical sequence as follows:
         211-239: WFQNRRAKWRKREKRWGGSSVMAEYGLYG → SGVPFLRSKDTTENVSFPHSVSQSAVPSL
         240-365: Missing.

    Note: Major form.

    Show »
    Length:239
    Mass (Da):24,996
    Checksum:i8F16E19365A59829
    GO
    Isoform 3 (identifier: Q9NZR4-3) [UniParc]FASTAAdd to Basket

    Also known as: S2

    The sequence of this isoform differs from the canonical sequence as follows:
         141-141: S → SGNQARAFRS...PVVVTSSTEQ
         211-239: WFQNRRAKWRKREKRWGGSSVMAEYGLYG → SGVPFLRSKDTTENVSFPHSVSQSAVPSL
         240-365: Missing.

    Note: Minor form.

    Show »
    Length:374
    Mass (Da):39,343
    Checksum:i999B9D725C347B0B
    GO
    Isoform 4 (identifier: Q9NZR4-4) [UniParc]FASTAAdd to Basket

    Also known as: S3

    The sequence of this isoform differs from the canonical sequence as follows:
         142-143: DE → AM
         144-365: Missing.

    Note: Minor form.

    Show »
    Length:143
    Mass (Da):14,049
    Checksum:i4B1228D8FBF47C95
    GO
    Isoform 5 (identifier: Q9NZR4-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         270-280: GMHKKSMGMIR → EGETLGCREMK
         281-365: Missing.

    Show »
    Length:280
    Mass (Da):29,863
    Checksum:i93F50A50D1724EE9
    GO
    Isoform 6 (identifier: Q9NZR4-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         210-218: VWFQNRRAK → RVRHWAAEK
         219-365: Missing.

    Show »
    Length:218
    Mass (Da):22,975
    Checksum:iC4EEBE486A79C4FF
    GO
    Isoform 7 (identifier: Q9NZR4-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         210-236: VWFQNRRAKWRKREKRWGGSSVMAEYG → CKLLLLEAPVHWTLQETHRLPRPRGGA
         237-365: Missing.

    Show »
    Length:236
    Mass (Da):24,915
    Checksum:iE8D71E1D7C478E32
    GO
    Isoform 8 (identifier: Q9NZR4-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         270-301: GMHKKSMGMIRKPGSEDKLAGLWGSDHFKEGS → VQTSAPGGSRSLDFAGDTQAPQTPWWCLMTFS
         302-365: Missing.

    Show »
    Length:301
    Mass (Da):32,054
    Checksum:i2D092C371A74D9DD
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171L → P in KTCN1. 1 Publication
    VAR_066670
    Natural varianti131 – 1311R → S.1 Publication
    Corresponds to variant rs6050307 [ dbSNP | Ensembl ].
    VAR_066671
    Natural varianti144 – 1441D → E in PPCD1 and KTCN1. 2 Publications
    Corresponds to variant rs140122268 [ dbSNP | Ensembl ].
    VAR_014243
    Natural varianti159 – 1591L → M in KTCN1. 1 Publication
    VAR_014244
    Natural varianti160 – 1601G → D in PPCD1; also in a patient with keratoconus; unknown pathological significance. 2 Publications
    Corresponds to variant rs74315433 [ dbSNP | Ensembl ].
    VAR_014245
    Natural varianti166 – 1661R → W in KTCN1; sporadic. 1 Publication
    VAR_014246
    Natural varianti175 – 1751Q → H in KTCN1. 1 Publication
    VAR_063100
    Natural varianti244 – 2441H → R in KTCN1; unknown pathological significance. 1 Publication
    Corresponds to variant rs148957473 [ dbSNP | Ensembl ].
    VAR_014247
    Natural varianti247 – 2471P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 2 Publications
    VAR_014248
    Natural varianti256 – 2561A → S in CAASDS. 1 Publication
    Corresponds to variant rs74315435 [ dbSNP | Ensembl ].
    VAR_066672

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei141 – 1411S → SGNQARAFRSCPCPLGSEPR RGHRPSPHRTPGPSGPDLGG EPRARPRRGRGIRGAAPPAP CCILNPCLSSGVLFPQRCET ATTWFRVEPFDETLGSSTTI SRGPFFPPAPGASLRLWQLR GSGRPGPVVVTSSTEQ in isoform 3. 1 PublicationVSP_002299
    Alternative sequencei142 – 1432DE → AM in isoform 4. 1 PublicationVSP_002300
    Alternative sequencei144 – 365222Missing in isoform 4. 1 PublicationVSP_002301Add
    BLAST
    Alternative sequencei210 – 23627VWFQN…MAEYG → CKLLLLEAPVHWTLQETHRL PRPRGGA in isoform 7. 1 PublicationVSP_039141Add
    BLAST
    Alternative sequencei210 – 2189VWFQNRRAK → RVRHWAAEK in isoform 6. 1 PublicationVSP_039140
    Alternative sequencei211 – 23929WFQNR…YGLYG → SGVPFLRSKDTTENVSFPHS VSQSAVPSL in isoform 2 and isoform 3. 2 PublicationsVSP_002302Add
    BLAST
    Alternative sequencei219 – 365147Missing in isoform 6. 1 PublicationVSP_039142Add
    BLAST
    Alternative sequencei237 – 365129Missing in isoform 7. 1 PublicationVSP_039143Add
    BLAST
    Alternative sequencei240 – 365126Missing in isoform 2 and isoform 3. 2 PublicationsVSP_002303Add
    BLAST
    Alternative sequencei270 – 30132GMHKK…FKEGS → VQTSAPGGSRSLDFAGDTQA PQTPWWCLMTFS in isoform 8. 1 PublicationVSP_039145Add
    BLAST
    Alternative sequencei270 – 28011GMHKKSMGMIR → EGETLGCREMK in isoform 5. 1 PublicationVSP_039144Add
    BLAST
    Alternative sequencei281 – 36585Missing in isoform 5. 1 PublicationVSP_039146Add
    BLAST
    Alternative sequencei302 – 36564Missing in isoform 8. 1 PublicationVSP_039147Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176797 mRNA. Translation: AAF37425.2.
    AF251033 mRNA. Translation: AAF99656.1.
    AF251034 mRNA. Translation: AAF99657.1.
    DQ854807 mRNA. Translation: ABI23973.1.
    DQ854808 mRNA. Translation: ABI23974.1.
    DQ854809 mRNA. Translation: ABI23975.1.
    DQ854810 mRNA. Translation: ABI23976.1.
    DQ854811 mRNA. Translation: ABI23977.1.
    DQ854812 mRNA. Translation: ABI23978.1.
    AL080312 Genomic DNA. Translation: CAI18918.1.
    AL080312 Genomic DNA. Translation: CAX15203.1.
    AL080312 Genomic DNA. Translation: CAX15204.1.
    AL080312 Genomic DNA. Translation: CAX15205.1.
    BC126228 mRNA. Translation: AAI26229.1.
    BC136497 mRNA. Translation: AAI36498.1.
    GU138372 Genomic DNA. Translation: ACZ01961.1.
    CCDSiCCDS13168.1. [Q9NZR4-1]
    CCDS13169.1. [Q9NZR4-2]
    CCDS58766.1. [Q9NZR4-7]
    CCDS58767.1. [Q9NZR4-8]
    RefSeqiNP_001243200.1. NM_001256271.1. [Q9NZR4-7]
    NP_001243201.1. NM_001256272.1. [Q9NZR4-8]
    NP_055403.2. NM_014588.5. [Q9NZR4-1]
    NP_955457.1. NM_199425.2. [Q9NZR4-2]
    UniGeneiHs.274264.

    Genome annotation databases

    EnsembliENST00000376707; ENSP00000365897; ENSG00000100987. [Q9NZR4-2]
    ENST00000376709; ENSP00000365899; ENSG00000100987. [Q9NZR4-1]
    ENST00000409285; ENSP00000386612; ENSG00000100987. [Q9NZR4-5]
    ENST00000409958; ENSP00000387069; ENSG00000100987. [Q9NZR4-6]
    ENST00000429762; ENSP00000401690; ENSG00000100987. [Q9NZR4-8]
    ENST00000444511; ENSP00000387720; ENSG00000100987. [Q9NZR4-7]
    GeneIDi30813.
    KEGGihsa:30813.
    UCSCiuc002wuf.4. human. [Q9NZR4-1]
    uc002wug.2. human. [Q9NZR4-2]
    uc010gdd.3. human. [Q9NZR4-8]
    uc010gdf.3. human. [Q9NZR4-7]

    Polymorphism databases

    DMDMi25009572.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176797 mRNA. Translation: AAF37425.2 .
    AF251033 mRNA. Translation: AAF99656.1 .
    AF251034 mRNA. Translation: AAF99657.1 .
    DQ854807 mRNA. Translation: ABI23973.1 .
    DQ854808 mRNA. Translation: ABI23974.1 .
    DQ854809 mRNA. Translation: ABI23975.1 .
    DQ854810 mRNA. Translation: ABI23976.1 .
    DQ854811 mRNA. Translation: ABI23977.1 .
    DQ854812 mRNA. Translation: ABI23978.1 .
    AL080312 Genomic DNA. Translation: CAI18918.1 .
    AL080312 Genomic DNA. Translation: CAX15203.1 .
    AL080312 Genomic DNA. Translation: CAX15204.1 .
    AL080312 Genomic DNA. Translation: CAX15205.1 .
    BC126228 mRNA. Translation: AAI26229.1 .
    BC136497 mRNA. Translation: AAI36498.1 .
    GU138372 Genomic DNA. Translation: ACZ01961.1 .
    CCDSi CCDS13168.1. [Q9NZR4-1 ]
    CCDS13169.1. [Q9NZR4-2 ]
    CCDS58766.1. [Q9NZR4-7 ]
    CCDS58767.1. [Q9NZR4-8 ]
    RefSeqi NP_001243200.1. NM_001256271.1. [Q9NZR4-7 ]
    NP_001243201.1. NM_001256272.1. [Q9NZR4-8 ]
    NP_055403.2. NM_014588.5. [Q9NZR4-1 ]
    NP_955457.1. NM_199425.2. [Q9NZR4-2 ]
    UniGenei Hs.274264.

    3D structure databases

    ProteinModelPortali Q9NZR4.
    SMRi Q9NZR4. Positions 171-220.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000365899.

    PTM databases

    PhosphoSitei Q9NZR4.

    Polymorphism databases

    DMDMi 25009572.

    Proteomic databases

    PaxDbi Q9NZR4.
    PRIDEi Q9NZR4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376707 ; ENSP00000365897 ; ENSG00000100987 . [Q9NZR4-2 ]
    ENST00000376709 ; ENSP00000365899 ; ENSG00000100987 . [Q9NZR4-1 ]
    ENST00000409285 ; ENSP00000386612 ; ENSG00000100987 . [Q9NZR4-5 ]
    ENST00000409958 ; ENSP00000387069 ; ENSG00000100987 . [Q9NZR4-6 ]
    ENST00000429762 ; ENSP00000401690 ; ENSG00000100987 . [Q9NZR4-8 ]
    ENST00000444511 ; ENSP00000387720 ; ENSG00000100987 . [Q9NZR4-7 ]
    GeneIDi 30813.
    KEGGi hsa:30813.
    UCSCi uc002wuf.4. human. [Q9NZR4-1 ]
    uc002wug.2. human. [Q9NZR4-2 ]
    uc010gdd.3. human. [Q9NZR4-8 ]
    uc010gdf.3. human. [Q9NZR4-7 ]

    Organism-specific databases

    CTDi 30813.
    GeneCardsi GC20M025051.
    HGNCi HGNC:12723. VSX1.
    MIMi 122000. phenotype.
    148300. phenotype.
    605020. gene.
    614195. phenotype.
    neXtProti NX_Q9NZR4.
    Orphaneti 2335. Isolated keratoconus.
    98973. Posterior polymorphous corneal dystrophy.
    PharmGKBi PA37334.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG237888.
    HOVERGENi HBG036251.
    InParanoidi Q9NZR4.
    KOi K09335.
    OMAi WGSDHLK.
    OrthoDBi EOG76474B.
    PhylomeDBi Q9NZR4.
    TreeFami TF350743.

    Miscellaneous databases

    GeneWikii VSX1.
    GenomeRNAii 30813.
    NextBioi 52864.
    PROi Q9NZR4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NZR4.
    CleanExi HS_VSX1.
    Genevestigatori Q9NZR4.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR023339. CVC.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS51496. CVC. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues."
      Semina E.V., Mintz-Hittner H.A., Murray J.C.
      Genomics 63:289-293(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Craniofacial.
    2. "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina."
      Hayashi T., Huang J., Deeb S.S.
      Genomics 67:128-139(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), TISSUE SPECIFICITY.
      Tissue: Retina.
    3. "Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes."
      Hosseini S.M., Herd S., Vincent A.L., Heon E.
      Mol. Vis. 14:71-80(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 5; 6; 7 AND 8), TISSUE SPECIFICITY.
      Tissue: Retina.
    4. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "A novel VSX1 mutation identified in an individual with keratoconus in India."
      Paliwal P., Singh A., Tandon R., Titiyal J.S., Sharma A.
      Mol. Vis. 15:2475-2479(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 168-186 (ISOFORMS 1/2/3/5/6/7/8), VARIANT KTCN1 HIS-175.
    7. Cited for: TISSUE SPECIFICITY, VARIANTS PPCD1 GLU-144 AND ASP-160, VARIANTS KTCN1 GLU-144; MET-159; TRP-166 AND ARG-244, VARIANT ARG-247.
    8. "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells."
      Mintz-Hittner H.A., Semina E.V., Frishman L.J., Prager T.C., Murray J.C.
      Ophthalmology 111:828-836(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CAASDS SER-256, VARIANT SER-131.
    9. "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation."
      Bisceglia L., Ciaschetti M., De Bonis P., Campo P.A., Pizzicoli C., Scala C., Grifa M., Ciavarella P., Delle Noci N., Vaira F., Macaluso C., Zelante L.
      Invest. Ophthalmol. Vis. Sci. 46:39-45(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS KTCN1 PRO-17; GLU-144; ASP-160 AND ARG-247.

    Entry informationi

    Entry nameiVSX1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZR4
    Secondary accession number(s): B9EGJ4
    , D1MF28, Q0GM60, Q0GM61, Q0GM62, Q0GM63, Q0GM64, Q0GM65, Q5TF40, Q5TF41, Q9HCU3, Q9NU27
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 123 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3