Q9NZR4 · VSX1_HUMAN
- ProteinVisual system homeobox 1
- GeneVSX1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids365 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837).
Dispensable in early retinal development (By similarity).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 164-223 | Homeobox | ||||
Sequence: KRRHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQVWFQNRRAKWRKRE |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription factor activity | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Molecular Function | transcription cis-regulatory region binding | |
Biological Process | neuron development | |
Biological Process | neuron maturation | |
Biological Process | regulation of DNA-templated transcription | |
Biological Process | retinal bipolar neuron differentiation | |
Biological Process | visual perception |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
The subsequence KASPTLGKRKKRRHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQVWFQNRRAKWRKREKRWGGSSVMA, which contains the Homeodomain domain, shows transcriptional repressor activity in a high-throughput recruitment assay.
Names & Taxonomy
Protein names
- Recommended nameVisual system homeobox 1
- Alternative names
Gene names
- Community suggested namesVSX1
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NZR4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Keratoconus 1 (KTCN1)
- Note
- DescriptionFrequent 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.
- See alsoMIM:148300
Natural variants in KTCN1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066670 | 17 | L>P | in KTCN1; dbSNP:rs74315436 | |
VAR_014244 | 159 | L>M | in KTCN1; uncertain significance; dbSNP:rs74315434 | |
VAR_014245 | 160 | G>D | in KTCN1; uncertain significance; dbSNP:rs74315433 | |
VAR_014246 | 166 | R>W | in KTCN1; sporadic; dbSNP:rs74315432 | |
VAR_063100 | 175 | Q>H | in KTCN1; dbSNP:rs771561481 | |
VAR_076692 | 239 | G>R | in KTCN1; uncertain significance; dbSNP:rs749663315 | |
VAR_014247 | 244 | H>R | in KTCN1; uncertain significance; dbSNP:rs148957473 | |
VAR_014248 | 247 | P>R | in KTCN1; uncertain significance; also in a patient with retinal dysfunction; dbSNP:rs576300014 |
Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)
- Note
- DescriptionA 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.
- See alsoMIM:614195
Natural variants in CAASDS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066672 | 256 | A>S | in CAASDS; dbSNP:rs74315435 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_066670 | 17 | in KTCN1; dbSNP:rs74315436 | |||
Sequence: L → P | ||||||
Natural variant | VAR_066671 | 131 | in dbSNP:rs6050307 | |||
Sequence: R → S | ||||||
Natural variant | VAR_014243 | 144 | in dbSNP:rs140122268 | |||
Sequence: D → E | ||||||
Natural variant | VAR_014244 | 159 | in KTCN1; uncertain significance; dbSNP:rs74315434 | |||
Sequence: L → M | ||||||
Natural variant | VAR_014245 | 160 | in KTCN1; uncertain significance; dbSNP:rs74315433 | |||
Sequence: G → D | ||||||
Natural variant | VAR_014246 | 166 | in KTCN1; sporadic; dbSNP:rs74315432 | |||
Sequence: R → W | ||||||
Natural variant | VAR_063100 | 175 | in KTCN1; dbSNP:rs771561481 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_076692 | 239 | in KTCN1; uncertain significance; dbSNP:rs749663315 | |||
Sequence: G → R | ||||||
Natural variant | VAR_014247 | 244 | in KTCN1; uncertain significance; dbSNP:rs148957473 | |||
Sequence: H → R | ||||||
Natural variant | VAR_014248 | 247 | in KTCN1; uncertain significance; also in a patient with retinal dysfunction; dbSNP:rs576300014 | |||
Sequence: P → R | ||||||
Natural variant | VAR_066672 | 256 | in CAASDS; dbSNP:rs74315435 | |||
Sequence: A → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 493 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000049355 | 1-365 | Visual system homeobox 1 | |||
Sequence: MTGRDSLSDGRTSSRALVPGGSPRGSRPRGFAITDLLGLEAELPAPAGPGQGSGCEGPAVAPCPGPGLDGSSLARGALPLGLGLLCGFGTQPPAAARAPCLLLADVPFLPPRGPEPAAPLAPSRPPPALGRQKRSDSVSTSDEDSQSEDRNDLKASPTLGKRKKRRHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQVWFQNRRAKWRKREKRWGGSSVMAEYGLYGAMVRHCIPLPDSVLNSAEGGLLGSCAPWLLGMHKKSMGMIRKPGSEDKLAGLWGSDHFKEGSSQSESGSQRGSDKVSPENGLEDVAIDLSSSARQETKKVHPGAGAQGGSNSTALEGPQPGKVGAT |
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9NZR4 | BAG6 P46379-2 | 3 | EBI-21789837, EBI-10988864 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, motif, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-15 | Polar residues | ||||
Sequence: MTGRDSLSDGRTSSR | ||||||
Region | 1-37 | Disordered | ||||
Sequence: MTGRDSLSDGRTSSRALVPGGSPRGSRPRGFAITDLL | ||||||
Motif | 31-38 | Octapeptide motif | ||||
Sequence: FAITDLLG | ||||||
Region | 113-167 | Disordered | ||||
Sequence: GPEPAAPLAPSRPPPALGRQKRSDSVSTSDEDSQSEDRNDLKASPTLGKRKKRRH | ||||||
Compositional bias | 136-158 | Basic and acidic residues | ||||
Sequence: DSVSTSDEDSQSEDRNDLKASPT | ||||||
Motif | 161-166 | Nuclear localization signal | ||||
Sequence: KRKKRR | ||||||
Domain | 224-277 | CVC | ||||
Sequence: KRWGGSSVMAEYGLYGAMVRHCIPLPDSVLNSAEGGLLGSCAPWLLGMHKKSMG | ||||||
Region | 290-365 | Disordered | ||||
Sequence: GLWGSDHFKEGSSQSESGSQRGSDKVSPENGLEDVAIDLSSSARQETKKVHPGAGAQGGSNSTALEGPQPGKVGAT | ||||||
Compositional bias | 297-315 | Polar residues | ||||
Sequence: FKEGSSQSESGSQRGSDKV |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 8 isoforms produced by Alternative splicing. Additional isoforms seem to exist.
Q9NZR4-1
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.
- Name1
- SynonymsL1
- NoteMajor form.
- Length365
- Mass (Da)38,431
- Last updated2001-03-01 v2
- ChecksumC58BE94767D66FCB
Q9NZR4-2
- Name2
- SynonymsS1, L3
- NoteMajor form.
Q9NZR4-3
- Name3
- SynonymsS2
- NoteMinor form.
Q9NZR4-4
- Name4
- SynonymsS3
- NoteMinor form.
Q9NZR4-5
- Name5
Q9NZR4-6
- Name6
Q9NZR4-7
- Name7
Q9NZR4-8
- Name8
Features
Showing features for compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-15 | Polar residues | ||||
Sequence: MTGRDSLSDGRTSSR | ||||||
Compositional bias | 136-158 | Basic and acidic residues | ||||
Sequence: DSVSTSDEDSQSEDRNDLKASPT | ||||||
Alternative sequence | VSP_002299 | 141 | in isoform 3 | |||
Sequence: S → SGNQARAFRSCPCPLGSEPRRGHRPSPHRTPGPSGPDLGGEPRARPRRGRGIRGAAPPAPCCILNPCLSSGVLFPQRCETATTWFRVEPFDETLGSSTTISRGPFFPPAPGASLRLWQLRGSGRPGPVVVTSSTEQ | ||||||
Alternative sequence | VSP_002300 | 142-143 | in isoform 4 | |||
Sequence: DE → AM | ||||||
Alternative sequence | VSP_002301 | 144-365 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_039140 | 210-218 | in isoform 6 | |||
Sequence: VWFQNRRAK → RVRHWAAEK | ||||||
Alternative sequence | VSP_039141 | 210-236 | in isoform 7 | |||
Sequence: VWFQNRRAKWRKREKRWGGSSVMAEYG → CKLLLLEAPVHWTLQETHRLPRPRGGA | ||||||
Alternative sequence | VSP_002302 | 211-239 | in isoform 2 and isoform 3 | |||
Sequence: WFQNRRAKWRKREKRWGGSSVMAEYGLYG → SGVPFLRSKDTTENVSFPHSVSQSAVPSL | ||||||
Alternative sequence | VSP_039142 | 219-365 | in isoform 6 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_039143 | 237-365 | in isoform 7 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_002303 | 240-365 | in isoform 2 and isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_039144 | 270-280 | in isoform 5 | |||
Sequence: GMHKKSMGMIR → EGETLGCREMK | ||||||
Alternative sequence | VSP_039145 | 270-301 | in isoform 8 | |||
Sequence: GMHKKSMGMIRKPGSEDKLAGLWGSDHFKEGS → VQTSAPGGSRSLDFAGDTQAPQTPWWCLMTFS | ||||||
Alternative sequence | VSP_039146 | 281-365 | in isoform 5 | |||
Sequence: Missing | ||||||
Compositional bias | 297-315 | Polar residues | ||||
Sequence: FKEGSSQSESGSQRGSDKV | ||||||
Alternative sequence | VSP_039147 | 302-365 | in isoform 8 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF176797 EMBL· GenBank· DDBJ | AAF37425.2 EMBL· GenBank· DDBJ | mRNA | ||
AF251033 EMBL· GenBank· DDBJ | AAF99656.1 EMBL· GenBank· DDBJ | mRNA | ||
AF251034 EMBL· GenBank· DDBJ | AAF99657.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854807 EMBL· GenBank· DDBJ | ABI23973.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854808 EMBL· GenBank· DDBJ | ABI23974.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854809 EMBL· GenBank· DDBJ | ABI23975.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854810 EMBL· GenBank· DDBJ | ABI23976.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854811 EMBL· GenBank· DDBJ | ABI23977.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ854812 EMBL· GenBank· DDBJ | ABI23978.1 EMBL· GenBank· DDBJ | mRNA | ||
AL080312 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC126228 EMBL· GenBank· DDBJ | AAI26229.1 EMBL· GenBank· DDBJ | mRNA | ||
BC136497 EMBL· GenBank· DDBJ | AAI36498.1 EMBL· GenBank· DDBJ | mRNA | ||
GU138372 EMBL· GenBank· DDBJ | ACZ01961.1 EMBL· GenBank· DDBJ | Genomic DNA |