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Q9NZR4

- VSX1_HUMAN

UniProt

Q9NZR4 - VSX1_HUMAN

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Protein
Visual system homeobox 1
Gene
VSX1, RINX
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 22360Homeobox
Add
BLAST

GO - Molecular functioni

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

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
Complete GO annotation...

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 By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 1
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini224 – 27754CVC
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi31 – 388Octapeptide motif
Motifi161 – 1666Nuclear localization signal Reviewed prediction

Compositional bias

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

Sequence similaritiesi

Belongs to the paired homeobox family.
Contains 1 CVC domain.

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.
VSP_002299
Alternative sequencei142 – 1432DE → AM in isoform 4.
VSP_002300
Alternative sequencei144 – 365222Missing in isoform 4.
VSP_002301Add
BLAST
Alternative sequencei210 – 23627VWFQN…MAEYG → CKLLLLEAPVHWTLQETHRL PRPRGGA in isoform 7.
VSP_039141Add
BLAST
Alternative sequencei210 – 2189VWFQNRRAK → RVRHWAAEK in isoform 6.
VSP_039140
Alternative sequencei211 – 23929WFQNR…YGLYG → SGVPFLRSKDTTENVSFPHS VSQSAVPSL in isoform 2 and isoform 3.
VSP_002302Add
BLAST
Alternative sequencei219 – 365147Missing in isoform 6.
VSP_039142Add
BLAST
Alternative sequencei237 – 365129Missing in isoform 7.
VSP_039143Add
BLAST
Alternative sequencei240 – 365126Missing in isoform 2 and isoform 3.
VSP_002303Add
BLAST
Alternative sequencei270 – 30132GMHKK…FKEGS → VQTSAPGGSRSLDFAGDTQA PQTPWWCLMTFS in isoform 8.
VSP_039145Add
BLAST
Alternative sequencei270 – 28011GMHKKSMGMIR → EGETLGCREMK in isoform 5.
VSP_039144Add
BLAST
Alternative sequencei281 – 36585Missing in isoform 5.
VSP_039146Add
BLAST
Alternative sequencei302 – 36564Missing in isoform 8.
VSP_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]
ENST00000398332; ENSP00000381376; ENSG00000100987. [Q9NZR4-4]
ENST00000409285; ENSP00000386612; ENSG00000100987. [Q9NZR4-5]
ENST00000409958; ENSP00000387069; ENSG00000100987. [Q9NZR4-6]
ENST00000424574; ENSP00000399496; ENSG00000100987. [Q9NZR4-5]
ENST00000429762; ENSP00000401690; ENSG00000100987. [Q9NZR4-8]
ENST00000444511; ENSP00000387720; ENSG00000100987. [Q9NZR4-7]
ENST00000451258; ENSP00000389654; ENSG00000100987. [Q9NZR4-6]
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...

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 ]
ENST00000398332 ; ENSP00000381376 ; ENSG00000100987 . [Q9NZR4-4 ]
ENST00000409285 ; ENSP00000386612 ; ENSG00000100987 . [Q9NZR4-5 ]
ENST00000409958 ; ENSP00000387069 ; ENSG00000100987 . [Q9NZR4-6 ]
ENST00000424574 ; ENSP00000399496 ; ENSG00000100987 . [Q9NZR4-5 ]
ENST00000429762 ; ENSP00000401690 ; ENSG00000100987 . [Q9NZR4-8 ]
ENST00000444511 ; ENSP00000387720 ; ENSG00000100987 . [Q9NZR4-7 ]
ENST00000451258 ; ENSP00000389654 ; ENSG00000100987 . [Q9NZR4-6 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 122 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

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