UniProtKB - O95475 (SIX6_HUMAN)
Protein
Homeobox protein SIX6
Gene
SIX6
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in eye development.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 128 – 187 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: MGI
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- animal organ morphogenesis Source: ProtInc
- eye development Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
- visual perception Source: ProtInc
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Enzyme and pathway databases
PathwayCommonsi | O95475 |
SIGNORi | O95475 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein SIX6Alternative name(s): Homeodomain protein OPTX2 Optic homeobox 2 Sine oculis homeobox homolog 6 |
Gene namesi | Name:SIX6 Synonyms:OPTX2, SIX9 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10892, SIX6 |
MIMi | 606326, gene |
neXtProti | NX_O95475 |
VEuPathDBi | HostDB:ENSG00000184302.6 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleus Source: GO_Central
Other locations
- chromatin Source: NTNU_SB
- transcription regulator complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Optic disk anomalies with retinal and/or macular dystrophy (ODRMD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
Related information in OMIMKeywords - Diseasei
Cataract, Disease variant, MicrophthalmiaOrganism-specific databases
DisGeNETi | 4990 |
MalaCardsi | SIX6 |
MIMi | 212550, phenotype |
OpenTargetsi | ENSG00000184302 |
Orphaneti | 435930, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 2542, Isolated microphthalmia-anophthalmia-coloboma |
PharmGKBi | PA35792 |
Miscellaneous databases
Pharosi | O95475, Tbio |
Genetic variation databases
BioMutai | SIX6 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049307 | 1 – 246 | Homeobox protein SIX6Add BLAST | 246 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 212 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 221 | PhosphoserineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 227 | PhosphoserineCombined sources | 1 | |
Modified residuei | 228 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-1185 |
EPDi | O95475 |
MassIVEi | O95475 |
MaxQBi | O95475 |
PaxDbi | O95475 |
PeptideAtlasi | O95475 |
PRIDEi | O95475 |
ProteomicsDBi | 50906 |
PTM databases
iPTMneti | O95475 |
PhosphoSitePlusi | O95475 |
Expressioni
Tissue specificityi
Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.
Gene expression databases
Bgeei | ENSG00000184302, Expressed in adenohypophysis and 28 other tissues |
Genevisiblei | O95475, HS |
Organism-specific databases
HPAi | ENSG00000184302, Tissue enriched (pituitary) |
Interactioni
Subunit structurei
Interacts with TLE4 and TLE5.
By similarityProtein-protein interaction databases
BioGRIDi | 111034, 3 interactors |
STRINGi | 9606.ENSP00000328596 |
Miscellaneous databases
RNActi | O95475, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the SIX/Sine oculis homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0775, Eukaryota |
GeneTreei | ENSGT00940000160091 |
HOGENOMi | CLU_046914_0_1_1 |
InParanoidi | O95475 |
OMAi | GTPEMLG |
OrthoDBi | 1575904at2759 |
PhylomeDBi | O95475 |
TreeFami | TF315545 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR001356, Homeobox_dom IPR031701, SIX1_SD IPR032947, SIX6 |
PANTHERi | PTHR10390:SF12, PTHR10390:SF12, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF16878, SIX1_SD, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS50071, HOMEOBOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
O95475-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MFQLPILNFS PQQVAGVCET LEESGDVERL GRFLWSLPVA PAACEALNKN
60 70 80 90 100
ESVLRARAIV AFHGGNYREL YHILENHKFT KESHAKLQAL WLEAHYQEAE
110 120 130 140 150
KLRGRPLGPV DKYRVRKKFP LPRTIWDGEQ KTHCFKERTR HLLREWYLQD
160 170 180 190 200
PYPNPSKKRE LAQATGLTPT QVGNWFKNRR QRDRAAAAKN RLQQQVLSQG
210 220 230 240
SGRALRAEGD GTPEVLGVAT SPAASLSSKA ATSAISITSS DSECDI
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031631 | 141 | H → N5 PublicationsCorresponds to variant dbSNP:rs33912345EnsemblClinVar. | 1 | |
Natural variantiVAR_026241 | 165 | T → A Found in a patient with bilateral asymmetric microphthalmia, cataract and nystagmus; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894480EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF031648 Genomic DNA Translation: AAF04402.1 AJ011785 mRNA Translation: CAA09773.1 AF141651 Genomic DNA Translation: AAD49844.1 BC069413 mRNA Translation: AAH69413.2 AB041399 Genomic DNA Translation: BAA94484.1 |
CCDSi | CCDS9747.1 |
RefSeqi | NP_031400.2, NM_007374.2 |
Genome annotation databases
Ensembli | ENST00000327720; ENSP00000328596; ENSG00000184302 |
GeneIDi | 4990 |
KEGGi | hsa:4990 |
UCSCi | uc001xfa.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF031648 Genomic DNA Translation: AAF04402.1 AJ011785 mRNA Translation: CAA09773.1 AF141651 Genomic DNA Translation: AAD49844.1 BC069413 mRNA Translation: AAH69413.2 AB041399 Genomic DNA Translation: BAA94484.1 |
CCDSi | CCDS9747.1 |
RefSeqi | NP_031400.2, NM_007374.2 |
3D structure databases
BMRBi | O95475 |
SMRi | O95475 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111034, 3 interactors |
STRINGi | 9606.ENSP00000328596 |
PTM databases
iPTMneti | O95475 |
PhosphoSitePlusi | O95475 |
Genetic variation databases
BioMutai | SIX6 |
Proteomic databases
CPTACi | CPTAC-1185 |
EPDi | O95475 |
MassIVEi | O95475 |
MaxQBi | O95475 |
PaxDbi | O95475 |
PeptideAtlasi | O95475 |
PRIDEi | O95475 |
ProteomicsDBi | 50906 |
Protocols and materials databases
Antibodypediai | 40, 161 antibodies |
DNASUi | 4990 |
Genome annotation databases
Ensembli | ENST00000327720; ENSP00000328596; ENSG00000184302 |
GeneIDi | 4990 |
KEGGi | hsa:4990 |
UCSCi | uc001xfa.5, human |
Organism-specific databases
CTDi | 4990 |
DisGeNETi | 4990 |
GeneCardsi | SIX6 |
HGNCi | HGNC:10892, SIX6 |
HPAi | ENSG00000184302, Tissue enriched (pituitary) |
MalaCardsi | SIX6 |
MIMi | 212550, phenotype 606326, gene |
neXtProti | NX_O95475 |
OpenTargetsi | ENSG00000184302 |
Orphaneti | 435930, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 2542, Isolated microphthalmia-anophthalmia-coloboma |
PharmGKBi | PA35792 |
VEuPathDBi | HostDB:ENSG00000184302.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0775, Eukaryota |
GeneTreei | ENSGT00940000160091 |
HOGENOMi | CLU_046914_0_1_1 |
InParanoidi | O95475 |
OMAi | GTPEMLG |
OrthoDBi | 1575904at2759 |
PhylomeDBi | O95475 |
TreeFami | TF315545 |
Enzyme and pathway databases
PathwayCommonsi | O95475 |
SIGNORi | O95475 |
Miscellaneous databases
BioGRID-ORCSi | 4990, 5 hits in 1005 CRISPR screens |
GenomeRNAii | 4990 |
Pharosi | O95475, Tbio |
PROi | PR:O95475 |
RNActi | O95475, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000184302, Expressed in adenohypophysis and 28 other tissues |
Genevisiblei | O95475, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR001356, Homeobox_dom IPR031701, SIX1_SD IPR032947, SIX6 |
PANTHERi | PTHR10390:SF12, PTHR10390:SF12, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF16878, SIX1_SD, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SIX6_HUMAN | |
Accessioni | O95475Primary (citable) accession number: O95475 Secondary accession number(s): Q6NT42, Q9P1X8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | October 3, 2006 | |
Last modified: | April 7, 2021 | |
This is version 172 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families