Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 162 (31 Jul 2019)
Sequence version 2 (01 Mar 2001)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Visual system homeobox 1

Gene

VSX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). 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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi164 – 223HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processSensory transduction, Transcription, Transcription regulation, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Visual system homeobox 1
Alternative name(s):
Homeodomain protein RINX
Retinal inner nuclear layer homeobox protein
Transcription factor VSX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VSX1
Synonyms:RINX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12723 VSX1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605020 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZR4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Keratoconus 1 (KTCN1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06667017L → P in KTCN1. 2 PublicationsCorresponds to variant dbSNP:rs74315436EnsemblClinVar.1
Natural variantiVAR_014244159L → M in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs74315434EnsemblClinVar.1
Natural variantiVAR_014245160G → D in KTCN1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs74315433EnsemblClinVar.1
Natural variantiVAR_014246166R → W in KTCN1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs74315432EnsemblClinVar.1
Natural variantiVAR_063100175Q → H in KTCN1. 1 PublicationCorresponds to variant dbSNP:rs771561481Ensembl.1
Natural variantiVAR_076692239G → R in KTCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749663315Ensembl.1
Natural variantiVAR_014247244H → R in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs148957473EnsemblClinVar.1
Natural variantiVAR_014248247P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 3 PublicationsCorresponds to variant dbSNP:rs576300014EnsemblClinVar.1
Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066672256A → S in CAASDS. 1 PublicationCorresponds to variant dbSNP:rs74315435EnsemblClinVar.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
30813

MalaCards human disease database

More...
MalaCardsi
VSX1
MIMi148300 phenotype
614195 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100987

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2335 NON RARE IN EUROPE: Isolated keratoconus
98973 Posterior polymorphous corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37334

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VSX1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
25009572

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000493551 – 365Visual system homeobox 1Add BLAST365

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZR4

PeptideAtlas

More...
PeptideAtlasi
Q9NZR4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZR4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83493 [Q9NZR4-1]
83494 [Q9NZR4-2]
83495 [Q9NZR4-3]
83496 [Q9NZR4-4]
83497 [Q9NZR4-5]
83498 [Q9NZR4-6]
83499 [Q9NZR4-7]
83500 [Q9NZR4-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZR4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZR4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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, weakly in neonatal lens, choroid and cornea (day 1, 4; month 9).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100987 Expressed in 65 organ(s), highest expression level in right hemisphere of cerebellum

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZR4 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119037, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365899

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NZR4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini224 – 277CVCPROSITE-ProRule annotationAdd BLAST54

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi31 – 38Octapeptide motif8
Motifi161 – 166Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi44 – 127Pro-richAdd BLAST84
Compositional biasi76 – 89Gly/Leu-richAdd BLAST14
Compositional biasi142 – 152Asp/Glu-rich (acidic)Add BLAST11

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IRDQ Eukaryota
ENOG4111PWF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160793

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZR4

KEGG Orthology (KO)

More...
KOi
K09335

Identification of Orthologs from Complete Genome Data

More...
OMAi
WGSDHLK

Database of Orthologous Groups

More...
OrthoDBi
1348807at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZR4

TreeFam database of animal gene trees

More...
TreeFami
TF350743

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR023339 CVC
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51496 CVC, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG
60 70 80 90 100
QGSGCEGPAV APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC
110 120 130 140 150
LLLADVPFLP PRGPEPAAPL APSRPPPALG RQKRSDSVST SDEDSQSEDR
160 170 180 190 200
NDLKASPTLG KRKKRRHRTV FTAHQLEELE KAFSEAHYPD VYAREMLAVK
210 220 230 240 250
TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA MVRHCIPLPD
260 270 280 290 300
SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG
310 320 330 340 350
SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN
360
STALEGPQPG KVGAT
Note: Major form.
Length:365
Mass (Da):38,431
Last modified:March 1, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06667017L → P in KTCN1. 2 PublicationsCorresponds to variant dbSNP:rs74315436EnsemblClinVar.1
Natural variantiVAR_066671131R → S1 PublicationCorresponds to variant dbSNP:rs6050307EnsemblClinVar.1
Natural variantiVAR_014243144D → E4 PublicationsCorresponds to variant dbSNP:rs140122268EnsemblClinVar.1
Natural variantiVAR_014244159L → M in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs74315434EnsemblClinVar.1
Natural variantiVAR_014245160G → D in KTCN1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs74315433EnsemblClinVar.1
Natural variantiVAR_014246166R → W in KTCN1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs74315432EnsemblClinVar.1
Natural variantiVAR_063100175Q → H in KTCN1. 1 PublicationCorresponds to variant dbSNP:rs771561481Ensembl.1
Natural variantiVAR_076692239G → R in KTCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749663315Ensembl.1
Natural variantiVAR_014247244H → R in KTCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs148957473EnsemblClinVar.1
Natural variantiVAR_014248247P → R in KTCN1; unknown pathological significance; also in a patient with retinal dysfunction. 3 PublicationsCorresponds to variant dbSNP:rs576300014EnsemblClinVar.1
Natural variantiVAR_066672256A → S in CAASDS. 1 PublicationCorresponds to variant dbSNP:rs74315435EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002299141S → SGNQARAFRSCPCPLGSEPR RGHRPSPHRTPGPSGPDLGG EPRARPRRGRGIRGAAPPAP CCILNPCLSSGVLFPQRCET ATTWFRVEPFDETLGSSTTI SRGPFFPPAPGASLRLWQLR GSGRPGPVVVTSSTEQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_002300142 – 143DE → AM in isoform 4. 1 Publication2
Alternative sequenceiVSP_002301144 – 365Missing in isoform 4. 1 PublicationAdd BLAST222
Alternative sequenceiVSP_039141210 – 236VWFQN…MAEYG → CKLLLLEAPVHWTLQETHRL PRPRGGA in isoform 7. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_039140210 – 218VWFQNRRAK → RVRHWAAEK in isoform 6. 1 Publication9
Alternative sequenceiVSP_002302211 – 239WFQNR…YGLYG → SGVPFLRSKDTTENVSFPHS VSQSAVPSL in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_039142219 – 365Missing in isoform 6. 1 PublicationAdd BLAST147
Alternative sequenceiVSP_039143237 – 365Missing in isoform 7. 1 PublicationAdd BLAST129
Alternative sequenceiVSP_002303240 – 365Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST126
Alternative sequenceiVSP_039145270 – 301GMHKK…FKEGS → VQTSAPGGSRSLDFAGDTQA PQTPWWCLMTFS in isoform 8. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_039144270 – 280GMHKKSMGMIR → EGETLGCREMK in isoform 5. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_039146281 – 365Missing in isoform 5. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_039147302 – 365Missing in isoform 8. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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 No translation available.
BC126228 mRNA Translation: AAI26229.1
BC136497 mRNA Translation: AAI36498.1
GU138372 Genomic DNA Translation: ACZ01961.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13168.1 [Q9NZR4-1]
CCDS13169.1 [Q9NZR4-2]
CCDS58766.1 [Q9NZR4-7]
CCDS58767.1 [Q9NZR4-8]

NCBI Reference Sequences

More...
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]
XP_016883326.1, XM_017027837.1 [Q9NZR4-5]
XP_016883327.1, XM_017027838.1 [Q9NZR4-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
30813

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:30813

UCSC genome browser

More...
UCSCi
uc002wuf.5 human [Q9NZR4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]
XP_016883326.1, XM_017027837.1 [Q9NZR4-5]
XP_016883327.1, XM_017027838.1 [Q9NZR4-6]

3D structure databases

SMRiQ9NZR4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119037, 11 interactors
STRINGi9606.ENSP00000365899

PTM databases

iPTMnetiQ9NZR4
PhosphoSitePlusiQ9NZR4

Polymorphism and mutation databases

BioMutaiVSX1
DMDMi25009572

Proteomic databases

PaxDbiQ9NZR4
PeptideAtlasiQ9NZR4
PRIDEiQ9NZR4
ProteomicsDBi83493 [Q9NZR4-1]
83494 [Q9NZR4-2]
83495 [Q9NZR4-3]
83496 [Q9NZR4-4]
83497 [Q9NZR4-5]
83498 [Q9NZR4-6]
83499 [Q9NZR4-7]
83500 [Q9NZR4-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.5 human [Q9NZR4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
30813
DisGeNETi30813

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VSX1
HGNCiHGNC:12723 VSX1
MalaCardsiVSX1
MIMi148300 phenotype
605020 gene
614195 phenotype
neXtProtiNX_Q9NZR4
OpenTargetsiENSG00000100987
Orphaneti2335 NON RARE IN EUROPE: Isolated keratoconus
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA37334

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IRDQ Eukaryota
ENOG4111PWF LUCA
GeneTreeiENSGT00940000160793
InParanoidiQ9NZR4
KOiK09335
OMAiWGSDHLK
OrthoDBi1348807at2759
PhylomeDBiQ9NZR4
TreeFamiTF350743

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
VSX1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
30813

Protein Ontology

More...
PROi
PR:Q9NZR4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100987 Expressed in 65 organ(s), highest expression level in right hemisphere of cerebellum
GenevisibleiQ9NZR4 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR023339 CVC
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS51496 CVC, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVSX1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZR4
Secondary accession number(s): B9EGJ4
, D1MF28, Q0GM60, Q0GM61, Q0GM62, Q0GM63, Q0GM64, Q0GM65, Q5TF40, Q5TF41, Q9HCU3, Q9NU27
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: March 1, 2001
Last modified: July 31, 2019
This is version 162 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again