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Protein

Homeobox protein SIX1

Gene

SIX1

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

Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.By similarity4 Publications

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 bindingi124 – 183HomeoboxPROSITE-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 functionActivator, Developmental protein, DNA-binding, Repressor
Biological processApoptosis, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q15475

SIGNOR Signaling Network Open Resource

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SIGNORi
Q15475

<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 SIX1
Alternative name(s):
Sine oculis homeobox homolog 1
<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:SIX1
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000126778.8

Human Gene Nomenclature Database

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HGNCi
HGNC:10887 SIX1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601205 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q15475

<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

Cytoplasm, 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

Deafness, autosomal dominant, 23 (DFNA23)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.
See also OMIM:605192
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_031026133Missing in DFNA23; in addition to deafness the patient had renal anomalies suggesting a branchiootorenal syndrome; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 Publications1
Branchiootic syndrome 3 (BOS3)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.
See also OMIM:608389
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06494817V → E in BOS3; crucial for interaction with EYA1 and EYA2 and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs397515562EnsemblClinVar.1
Natural variantiVAR_06494973H → P in BOS3. 1 Publication1
Natural variantiVAR_064950106V → G in BOS3; crucial for protein stability, DNA binding and transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs397515560EnsemblClinVar.1
Natural variantiVAR_064951110R → Q in BOS3. 1 PublicationCorresponds to variant dbSNP:rs1064794308Ensembl.1
Natural variantiVAR_031024110R → W in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs80356459EnsemblClinVar.1
Natural variantiVAR_064952112R → C in BOS3; crucial for DNA binding and transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs397515561EnsemblClinVar.1
Natural variantiVAR_064953122W → R in BOS3. 1 PublicationCorresponds to variant dbSNP:rs121909770EnsemblClinVar.1
Natural variantiVAR_031025129Y → C in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs104894478EnsemblClinVar.1
Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.2 Publications

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

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DisGeNETi
6495

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

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GeneReviewsi
SIX1

MalaCards human disease database

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MalaCardsi
SIX1
MIMi605192 phenotype
608389 phenotype

Open Targets

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OpenTargetsi
ENSG00000126778

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

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Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
107 BOR syndrome
52429 Branchiootic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35787

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SIX1

Domain mapping of disease mutations (DMDM)

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DMDMi
2495290

<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_00000492951 – 284Homeobox protein SIX1Add BLAST284

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements.1 Publication
Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15475

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

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PaxDbi
Q15475

PeptideAtlas

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PeptideAtlasi
Q15475

PRoteomics IDEntifications database

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PRIDEi
Q15475

ProteomicsDB human proteome resource

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ProteomicsDBi
60606

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15475

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

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PhosphoSitePlusi
Q15475

<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

Specifically expressed in skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000126778 Expressed in 130 organ(s), highest expression level in vastus lateralis

CleanEx database of gene expression profiles

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CleanExi
HS_SIX1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15475 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15475 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB058690
HPA001893

<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 DACH1 and EYA3 (By similarity). Interacts with EYA1 and EYA2. Interacts with CDC20. Interacts with TBX18 (PubMed:26235987).By similarity5 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112386, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q15475

Database of interacting proteins

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DIPi
DIP-34448N

Protein interaction database and analysis system

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IntActi
Q15475, 13 interactors

Molecular INTeraction database

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MINTi
Q15475

STRING: functional protein association networks

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STRINGi
9606.ENSP00000247182

<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

Secondary structure

1284
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15475

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

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SMRi
Q15475

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

<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

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eggNOGi
KOG0775 Eukaryota
ENOG410XRPB LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156487

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261680

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003609

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15475

KEGG Orthology (KO)

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KOi
K15614

Identification of Orthologs from Complete Genome Data

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OMAi
SAYPMSG

Database of Orthologous Groups

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OrthoDBi
EOG091G083I

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15475

TreeFam database of animal gene trees

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TreeFami
TF315545

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR031278 SIX1
IPR031701 SIX1_SD

The PANTHER Classification System

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PANTHERi
PTHR10390:SF13 PTHR10390:SF13, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF16878 SIX1_SD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q15475-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSMLPSFGFT QEQVACVCEV LQQGGNLERL GRFLWSLPAC DHLHKNESVL
60 70 80 90 100
KAKAVVAFHR GNFRELYKIL ESHQFSPHNH PKLQQLWLKA HYVEAEKLRG
110 120 130 140 150
RPLGAVGKYR VRRKFPLPRT IWDGEETSYC FKEKSRGVLR EWYAHNPYPS
160 170 180 190 200
PREKRELAEA TGLTTTQVSN WFKNRRQRDR AAEAKERENT ENNNSSSNKQ
210 220 230 240 250
NQLSPLEGGK PLMSSSEEEF SPPQSPDQNS VLLLQGNMGH ARSSNYSLPG
260 270 280
LTASQPSHGL QTHQHQLQDS LLGPLTSSLV DLGS
Length:284
Mass (Da):32,210
Last modified:November 1, 1996 - 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:iA4195376CFB9E3EA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YK85H0YK85_HUMAN
Homeobox protein SIX1
SIX1
111Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06494817V → E in BOS3; crucial for interaction with EYA1 and EYA2 and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs397515562EnsemblClinVar.1
Natural variantiVAR_06494973H → P in BOS3. 1 Publication1
Natural variantiVAR_06744699R → C2 PublicationsCorresponds to variant dbSNP:rs17850414Ensembl.1
Natural variantiVAR_064950106V → G in BOS3; crucial for protein stability, DNA binding and transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs397515560EnsemblClinVar.1
Natural variantiVAR_064951110R → Q in BOS3. 1 PublicationCorresponds to variant dbSNP:rs1064794308Ensembl.1
Natural variantiVAR_031024110R → W in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs80356459EnsemblClinVar.1
Natural variantiVAR_064952112R → C in BOS3; crucial for DNA binding and transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs397515561EnsemblClinVar.1
Natural variantiVAR_064953122W → R in BOS3. 1 PublicationCorresponds to variant dbSNP:rs121909770EnsemblClinVar.1
Natural variantiVAR_031025129Y → C in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 PublicationsCorresponds to variant dbSNP:rs104894478EnsemblClinVar.1
Natural variantiVAR_031026133Missing in DFNA23; in addition to deafness the patient had renal anomalies suggesting a branchiootorenal syndrome; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 Publications1
Natural variantiVAR_064954249P → L in BOR; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368974927Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X91868 mRNA Translation: CAA62974.1
AF323497 Genomic DNA Translation: AAK06772.1
BT007083 mRNA Translation: AAP35746.1
BC008874 mRNA Translation: AAH08874.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9748.1

NCBI Reference Sequences

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RefSeqi
NP_005973.1, NM_005982.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.633506

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000247182; ENSP00000247182; ENSG00000126778
ENST00000645694; ENSP00000494686; ENSG00000126778

Database of genes from NCBI RefSeq genomes

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GeneIDi
6495

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6495

UCSC genome browser

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UCSCi
uc001xfb.5 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91868 mRNA Translation: CAA62974.1
AF323497 Genomic DNA Translation: AAK06772.1
BT007083 mRNA Translation: AAP35746.1
BC008874 mRNA Translation: AAH08874.1
CCDSiCCDS9748.1
RefSeqiNP_005973.1, NM_005982.3
UniGeneiHs.633506

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4EGCX-ray1.99A1-189[»]
ProteinModelPortaliQ15475
SMRiQ15475
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112386, 16 interactors
CORUMiQ15475
DIPiDIP-34448N
IntActiQ15475, 13 interactors
MINTiQ15475
STRINGi9606.ENSP00000247182

PTM databases

iPTMnetiQ15475
PhosphoSitePlusiQ15475

Polymorphism and mutation databases

BioMutaiSIX1
DMDMi2495290

Proteomic databases

MaxQBiQ15475
PaxDbiQ15475
PeptideAtlasiQ15475
PRIDEiQ15475
ProteomicsDBi60606

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6495
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247182; ENSP00000247182; ENSG00000126778
ENST00000645694; ENSP00000494686; ENSG00000126778
GeneIDi6495
KEGGihsa:6495
UCSCiuc001xfb.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6495
DisGeNETi6495
EuPathDBiHostDB:ENSG00000126778.8

GeneCards: human genes, protein and diseases

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GeneCardsi
SIX1
GeneReviewsiSIX1
HGNCiHGNC:10887 SIX1
HPAiCAB058690
HPA001893
MalaCardsiSIX1
MIMi601205 gene
605192 phenotype
608389 phenotype
neXtProtiNX_Q15475
OpenTargetsiENSG00000126778
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
107 BOR syndrome
52429 Branchiootic syndrome
PharmGKBiPA35787

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0775 Eukaryota
ENOG410XRPB LUCA
GeneTreeiENSGT00940000156487
HOGENOMiHOG000261680
HOVERGENiHBG003609
InParanoidiQ15475
KOiK15614
OMAiSAYPMSG
OrthoDBiEOG091G083I
PhylomeDBiQ15475
TreeFamiTF315545

Enzyme and pathway databases

SignaLinkiQ15475
SIGNORiQ15475

Miscellaneous databases

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

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ChiTaRSi
SIX1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SIX1

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

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GenomeRNAii
6495

Protein Ontology

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PROi
PR:Q15475

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000126778 Expressed in 130 organ(s), highest expression level in vastus lateralis
CleanExiHS_SIX1
ExpressionAtlasiQ15475 baseline and differential
GenevisibleiQ15475 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR031278 SIX1
IPR031701 SIX1_SD
PANTHERiPTHR10390:SF13 PTHR10390:SF13, 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
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiSIX1_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: Q15475
Secondary accession number(s): Q53Y16, Q96H64
<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 1, 1997
Last sequence update: November 1, 1996
Last modified: December 5, 2018
This is version 170 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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