Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Homeobox protein SIX3

Gene

SIX3

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

Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is required for the formation of the telencephalon. During postnatal stages of brain development is necessary for ependymal cell maturation by promoting the maturation of radial glia into ependymal cells through regulation of neuroblast proliferation and migration. Acts on the proliferation and differentiation of neural progenitor cells through activating transcription of CCND1 AND CCND2. During early lens formation plays a role in lens induction and specification by activating directly PAX6 in the presumptive lens ectoderm. In turn PAX6 activates SIX3 resulting in activation of PDGFRA and CCND1 promoting cell proliferation. Also is required for the neuroretina development by directly suppressing WNT8B expression in the anterior neural plate territory. Its action during retina development and lens morphogenesis is AES and TLE4-dependent manner. Furthermore, during eye development regulates several genes expression. Before and during early lens development represses the CRYGF promoter by binding a SIX repressor element. Directly activates RHO transcription, or cooperates with CRX or NRL. Six3 functions also in the formation of the proximodistal axis of the optic cup, and promotes the formation of optic vesicles-like structures. During pituitary development, acts in parallel or alternatively with HESX1 to control cell proliferation through Wnt/beta-catenin pathway (By similarity). Plays a role in eye development by suppressing WNT1 expression and in dorsal-ventral patterning by repressing BMP signaling pathway.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi206 – 265HomeoboxPROSITE-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, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95343

<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:
Homeobox protein SIX3
Alternative name(s):
Sine oculis homeobox homolog 3
<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:SIX3
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138083.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10889 SIX3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603714 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95343

<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; 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

Holoprosencephaly 2 (HPE2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
See also OMIM:157170
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_07133537G → C in SCHZC AND HPE2. 2 PublicationsCorresponds to variant dbSNP:rs199823175EnsemblClinVar.1
Natural variantiVAR_03841869G → D in HPE2. 1 PublicationCorresponds to variant dbSNP:rs121917881EnsemblClinVar.1
Natural variantiVAR_07133679M → V in HPE2. 1 Publication1
Natural variantiVAR_02379792V → G in HPE2. 1 Publication1
Natural variantiVAR_07133793A → D in HPE2. 1 Publication1
Natural variantiVAR_023798105I → V in HPE2. 1 Publication1
Natural variantiVAR_071338113W → C in HPE2. 1 PublicationCorresponds to variant dbSNP:rs137853021EnsemblClinVar.1
Natural variantiVAR_071339114S → L in HPE2. 1 Publication1
Natural variantiVAR_071340138V → D in HPE2. 1 Publication1
Natural variantiVAR_071341155Missing in HPE2. 1 Publication1
Natural variantiVAR_071342157F → I in HPE2. 1 Publication1
Natural variantiVAR_071344172A → V in HPE2. 1 Publication1
Natural variantiVAR_023799173H → P in HPE2. 1 Publication1
Natural variantiVAR_071345174Y → H in HPE2. 1 Publication1
Natural variantiVAR_023800202T → I in HPE2. 1 Publication1
Natural variantiVAR_071346213F → V in HPE2. 1 Publication1
Natural variantiVAR_071347218R → P in HPE2. 1 Publication1
Natural variantiVAR_071348218R → W in HPE2. 1 Publication1
Natural variantiVAR_003771226L → V in HPE2. 1 PublicationCorresponds to variant dbSNP:rs121917878EnsemblClinVar.1
Natural variantiVAR_071349227Q → P in HPE2. 1 Publication1
Natural variantiVAR_023801231P → R in HPE2. 1 Publication1
Natural variantiVAR_071350244G → C in HPE2. 1 PublicationCorresponds to variant dbSNP:rs989286015Ensembl.1
Natural variantiVAR_003772250V → A in HPE2; Significantly decreased its ability to activate NR4A3. 2 PublicationsCorresponds to variant dbSNP:rs121917880EnsemblClinVar.1
Natural variantiVAR_071351254F → L in HPE2. 1 Publication1
Natural variantiVAR_071352257R → G in HPE2. 1 Publication1
Natural variantiVAR_003773257R → P in HPE2; Significantly decreased interaction with NR4A3; Significantly decreased its ability to activate NR4A3. 2 PublicationsCorresponds to variant dbSNP:rs121917879EnsemblClinVar.1
Natural variantiVAR_023802257R → W in HPE2. 1 Publication1
Natural variantiVAR_071353258R → L in HPE2. 1 Publication1
Natural variantiVAR_071354262R → H in HPE2. 1 Publication1
Natural variantiVAR_071355269R → M in HPE2. 1 Publication1
Natural variantiVAR_071356269R → S in HPE2. 1 Publication1
Natural variantiVAR_071357269R → T in HPE2. 1 Publication1
Natural variantiVAR_071358297P → L in HPE2. 1 PublicationCorresponds to variant dbSNP:rs780942050Ensembl.1
Schizencephaly (SCHZC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionExtremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
See also OMIM:269160
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07133537G → C in SCHZC AND HPE2. 2 PublicationsCorresponds to variant dbSNP:rs199823175EnsemblClinVar.1
Natural variantiVAR_071343167A → S in SCHZC. 1 PublicationCorresponds to variant dbSNP:rs387906868EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi87F → E: Decreased interaction with AES and loss ineteraction with TLE1. 1 Publication1
Mutagenesisi95V → P: Loss of interaction with TLE1 and AES; when associated with P-99. 1 Publication1
Mutagenesisi99L → P: Loss of interaction with TLE1 and AES; when associated with P-95. 1 Publication1

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
6496

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SIX3

MalaCards human disease database

More...
MalaCardsi
SIX3
MIMi157170 phenotype
269160 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138083

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

More...
Orphaneti
485275 Acquired schizencephaly
93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35789

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SIX3

<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_00000492991 – 332Homeobox protein SIX3Add BLAST332

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95343

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95343

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95343

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

More...
PaxDbi
O95343

PeptideAtlas

More...
PeptideAtlasi
O95343

PRoteomics IDEntifications database

More...
PRIDEi
O95343

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50811

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95343

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

More...
PhosphoSitePlusi
O95343

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression is detected in Rathke's pouch and overlying ventral diencephalon at carnegie stage 17 and in the anterior and posterior lobes of the pituitary at carnegie stage 20. At fetal stage, expression is observed in the anterior pituitary, and the ventricular zones of the hypothalamus and telencephalic vesicles.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138083 Expressed in 87 organ(s), highest expression level in forebrain

CleanEx database of gene expression profiles

More...
CleanExi
HS_SIX3

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95343 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA067988

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with EYA4; translocates EYA4 from the cytoplasm to the nucleus and promotes activation of their target genes (By similarity). Interacts with MTA1 and HDAC2; represses its own transcription (By similarity). Interacts with MTA1; facilitates the binding of SIX3 to the core DNA motif of SIX3 promoter (By similarity). Interacts with EYA1; promotes EYA1 translocation to the nucleus (By similarity). Interacts with TLE1 and AES (via Q domain); can act in combination with either TLE1 and/or AES leading to transcriptional repression or activation, respectively. Interacts (via homeobox) with NR4A3; differentially regulates the transcriptional activities NR4A3. Interacts with GMNN. Interacts with TLE4.By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NR4A3Q925703EBI-13644574,EBI-13644623

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112387, 5 interactors

Protein interaction database and analysis system

More...
IntActi
O95343, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000260653

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95343

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

More...
SMRi
O95343

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni72 – 119Interaction with AESBy similarityAdd BLAST48
Regioni232 – 234Bind to RHO promoterBy similarity3

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 biasi33 – 69Gly-richPROSITE-ProRule annotationAdd BLAST37

<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 SIX/Sine oculis homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0775 Eukaryota
ENOG410XRPB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160346

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261680

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003609

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95343

KEGG Orthology (KO)

More...
KOi
K19473

Identification of Orthologs from Complete Genome Data

More...
OMAi
HFFLPNF

Database of Orthologous Groups

More...
OrthoDBi
1197104at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95343

TreeFam database of animal gene trees

More...
TreeFami
TF315545

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
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR031701 SIX1_SD
IPR032949 SIX3

The PANTHER Classification System

More...
PANTHERi
PTHR10390:SF31 PTHR10390:SF31, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF16878 SIX1_SD, 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
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

O95343-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVFRSPLDLY SSHFLLPNFA DSHHRSILLA SSGGGNGAGG GGGAGGGSGG
60 70 80 90 100
GNGAGGGGAG GAGGGGGGGS RAPPEELSMF QLPTLNFSPE QVASVCETLE
110 120 130 140 150
ETGDIERLGR FLWSLPVAPG ACEAINKHES ILRARAVVAF HTGNFRDLYH
160 170 180 190 200
ILENHKFTKE SHGKLQAMWL EAHYQEAEKL RGRPLGPVDK YRVRKKFPLP
210 220 230 240 250
RTIWDGEQKT HCFKERTRSL LREWYLQDPY PNPSKKRELA QATGLTPTQV
260 270 280 290 300
GNWFKNRRQR DRAAAAKNRL QHQAIGPSGM RSLAEPGCPT HGSAESPSTA
310 320 330
ASPTTSVSSL TERADTGTSI LSVTSSDSEC DV
Length:332
Mass (Da):35,487
Last modified:May 1, 1999 - v1
<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:i21EA07F6A2DD978F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07133537G → C in SCHZC AND HPE2. 2 PublicationsCorresponds to variant dbSNP:rs199823175EnsemblClinVar.1
Natural variantiVAR_03841869G → D in HPE2. 1 PublicationCorresponds to variant dbSNP:rs121917881EnsemblClinVar.1
Natural variantiVAR_07133679M → V in HPE2. 1 Publication1
Natural variantiVAR_02379792V → G in HPE2. 1 Publication1
Natural variantiVAR_07133793A → D in HPE2. 1 Publication1
Natural variantiVAR_023798105I → V in HPE2. 1 Publication1
Natural variantiVAR_071338113W → C in HPE2. 1 PublicationCorresponds to variant dbSNP:rs137853021EnsemblClinVar.1
Natural variantiVAR_071339114S → L in HPE2. 1 Publication1
Natural variantiVAR_071340138V → D in HPE2. 1 Publication1
Natural variantiVAR_071341155Missing in HPE2. 1 Publication1
Natural variantiVAR_071342157F → I in HPE2. 1 Publication1
Natural variantiVAR_071343167A → S in SCHZC. 1 PublicationCorresponds to variant dbSNP:rs387906868EnsemblClinVar.1
Natural variantiVAR_071344172A → V in HPE2. 1 Publication1
Natural variantiVAR_023799173H → P in HPE2. 1 Publication1
Natural variantiVAR_071345174Y → H in HPE2. 1 Publication1
Natural variantiVAR_023800202T → I in HPE2. 1 Publication1
Natural variantiVAR_071346213F → V in HPE2. 1 Publication1
Natural variantiVAR_071347218R → P in HPE2. 1 Publication1
Natural variantiVAR_071348218R → W in HPE2. 1 Publication1
Natural variantiVAR_003771226L → V in HPE2. 1 PublicationCorresponds to variant dbSNP:rs121917878EnsemblClinVar.1
Natural variantiVAR_071349227Q → P in HPE2. 1 Publication1
Natural variantiVAR_023801231P → R in HPE2. 1 Publication1
Natural variantiVAR_071350244G → C in HPE2. 1 PublicationCorresponds to variant dbSNP:rs989286015Ensembl.1
Natural variantiVAR_003772250V → A in HPE2; Significantly decreased its ability to activate NR4A3. 2 PublicationsCorresponds to variant dbSNP:rs121917880EnsemblClinVar.1
Natural variantiVAR_071351254F → L in HPE2. 1 Publication1
Natural variantiVAR_071352257R → G in HPE2. 1 Publication1
Natural variantiVAR_003773257R → P in HPE2; Significantly decreased interaction with NR4A3; Significantly decreased its ability to activate NR4A3. 2 PublicationsCorresponds to variant dbSNP:rs121917879EnsemblClinVar.1
Natural variantiVAR_023802257R → W in HPE2. 1 Publication1
Natural variantiVAR_071353258R → L in HPE2. 1 Publication1
Natural variantiVAR_071354262R → H in HPE2. 1 Publication1
Natural variantiVAR_071355269R → M in HPE2. 1 Publication1
Natural variantiVAR_071356269R → S in HPE2. 1 Publication1
Natural variantiVAR_071357269R → T in HPE2. 1 Publication1
Natural variantiVAR_071358297P → L in HPE2. 1 PublicationCorresponds to variant dbSNP:rs780942050Ensembl.1

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
AF092047 Genomic DNA Translation: AAD11939.1
AF049339 Genomic DNA Translation: AAD15753.1
AF083891 Genomic DNA Translation: AAD51091.1
AJ012611 mRNA Translation: CAB42539.1
AC012354 Genomic DNA Translation: AAX93283.1
CH471053 Genomic DNA Translation: EAX00267.1
CH471053 Genomic DNA Translation: EAX00268.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1821.1

NCBI Reference Sequences

More...
RefSeqi
NP_005404.1, NM_005413.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.567336

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260653; ENSP00000260653; ENSG00000138083

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6496

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6496

UCSC genome browser

More...
UCSCi
uc002run.2 human

<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
AF092047 Genomic DNA Translation: AAD11939.1
AF049339 Genomic DNA Translation: AAD15753.1
AF083891 Genomic DNA Translation: AAD51091.1
AJ012611 mRNA Translation: CAB42539.1
AC012354 Genomic DNA Translation: AAX93283.1
CH471053 Genomic DNA Translation: EAX00267.1
CH471053 Genomic DNA Translation: EAX00268.1
CCDSiCCDS1821.1
RefSeqiNP_005404.1, NM_005413.3
UniGeneiHs.567336

3D structure databases

ProteinModelPortaliO95343
SMRiO95343
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112387, 5 interactors
IntActiO95343, 1 interactor
STRINGi9606.ENSP00000260653

PTM databases

iPTMnetiO95343
PhosphoSitePlusiO95343

Polymorphism and mutation databases

BioMutaiSIX3

Proteomic databases

EPDiO95343
jPOSTiO95343
MaxQBiO95343
PaxDbiO95343
PeptideAtlasiO95343
PRIDEiO95343
ProteomicsDBi50811

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6496
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260653; ENSP00000260653; ENSG00000138083
GeneIDi6496
KEGGihsa:6496
UCSCiuc002run.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6496
DisGeNETi6496
EuPathDBiHostDB:ENSG00000138083.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SIX3
GeneReviewsiSIX3

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0161628
HGNCiHGNC:10889 SIX3
HPAiHPA067988
MalaCardsiSIX3
MIMi157170 phenotype
269160 phenotype
603714 gene
neXtProtiNX_O95343
OpenTargetsiENSG00000138083
Orphaneti485275 Acquired schizencephaly
93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA35789

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0775 Eukaryota
ENOG410XRPB LUCA
GeneTreeiENSGT00940000160346
HOGENOMiHOG000261680
HOVERGENiHBG003609
InParanoidiO95343
KOiK19473
OMAiHFFLPNF
OrthoDBi1197104at2759
PhylomeDBiO95343
TreeFamiTF315545

Enzyme and pathway databases

SIGNORiO95343

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SIX3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SIX3

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

More...
GenomeRNAii
6496

Protein Ontology

More...
PROi
PR:O95343

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138083 Expressed in 87 organ(s), highest expression level in forebrain
CleanExiHS_SIX3
GenevisibleiO95343 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR031701 SIX1_SD
IPR032949 SIX3
PANTHERiPTHR10390:SF31 PTHR10390:SF31, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF16878 SIX1_SD, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiSIX3_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: O95343
Secondary accession number(s): D6W5A5, Q53T42
<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: July 15, 1999
Last sequence update: May 1, 1999
Last modified: January 16, 2019
This is version 159 of the entry and version 1 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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