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O95343

- SIX3_HUMAN

UniProt

O95343 - SIX3_HUMAN

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Protein

Homeobox protein SIX3

Gene

SIX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi206 – 26560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  3. transcription corepressor binding Source: UniProtKB

GO - Biological processi

  1. brain development Source: ProtInc
  2. circadian behavior Source: Ensembl
  3. diencephalon development Source: Ensembl
  4. eye development Source: UniProtKB
  5. forebrain anterior/posterior pattern specification Source: Ensembl
  6. forebrain dorsal/ventral pattern formation Source: UniProtKB
  7. lens induction in camera-type eye Source: Ensembl
  8. negative regulation of transcription, DNA-templated Source: UniProtKB
  9. negative regulation of Wnt signaling pathway Source: Ensembl
  10. protein import into nucleus Source: Ensembl
  11. telencephalon development Source: Ensembl
  12. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein SIX3
Alternative name(s):
Sine oculis homeobox homolog 3
Gene namesi
Name:SIX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10889. SIX3.

Subcellular locationi

Nucleus By similarityPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Holoprosencephaly 2 (HPE2) [MIM:157170]: A 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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → C in SCHZC AND HPE2; moderately decreased repression activity on BMP2. 2 Publications
VAR_071335
Natural varianti69 – 691G → D in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_038418
Natural varianti79 – 791M → V in HPE2. 1 Publication
VAR_071336
Natural varianti92 – 921V → G in HPE2; severely decreased repression activity on BMP2 and WNT1. 1 Publication
VAR_023797
Natural varianti93 – 931A → D in HPE2; severely decreased repression activity on BMP2 and WNT1. 1 Publication
VAR_071337
Natural varianti105 – 1051I → V in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_023798
Natural varianti113 – 1131W → C in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071338
Natural varianti114 – 1141S → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071339
Natural varianti138 – 1381V → D in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071340
Natural varianti155 – 1551Missing in HPE2. 1 Publication
VAR_071341
Natural varianti157 – 1571F → I in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071342
Natural varianti172 – 1721A → V in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071344
Natural varianti173 – 1731H → P in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_023799
Natural varianti174 – 1741Y → H in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071345
Natural varianti202 – 2021T → I in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_023800
Natural varianti213 – 2131F → V in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071346
Natural varianti218 – 2181R → P in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071347
Natural varianti218 – 2181R → W in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071348
Natural varianti226 – 2261L → V in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_003771
Natural varianti227 – 2271Q → P in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071349
Natural varianti231 – 2311P → R in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_023801
Natural varianti244 – 2441G → C in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071350
Natural varianti250 – 2501V → A in HPE2; moderately decreased repression activity on BMP2; Significantly decreased its ability to activate NR4A3. 2 Publications
VAR_003772
Natural varianti254 – 2541F → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071351
Natural varianti257 – 2571R → G in HPE2. 1 Publication
VAR_071352
Natural varianti257 – 2571R → P in HPE2; mildly decreased repression activity on BMP2; Significantly decreased interaction with NR4A3; Significantly decreased its ability to activate NR4A3. 2 Publications
VAR_003773
Natural varianti257 – 2571R → W in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_023802
Natural varianti258 – 2581R → L in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071353
Natural varianti262 – 2621R → H in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071354
Natural varianti269 – 2691R → M in HPE2. 1 Publication
VAR_071355
Natural varianti269 – 2691R → S in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071356
Natural varianti269 – 2691R → T in HPE2. 1 Publication
VAR_071357
Natural varianti297 – 2971P → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071358
Schizencephaly (SCHZC) [MIM:269160]: Extremely 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → C in SCHZC AND HPE2; moderately decreased repression activity on BMP2. 2 Publications
VAR_071335
Natural varianti167 – 1671A → S in SCHZC. 1 Publication
VAR_071343

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi87 – 871F → E: Decreased interaction with AES and loss ineteraction with TLE1. 1 Publication
Mutagenesisi95 – 951V → P: Loss of interaction with TLE1 and AES; when associated with P-99. 1 Publication
Mutagenesisi99 – 991L → P: Loss of interaction with TLE1 and AES; when associated with P-95. 1 Publication

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

MIMi157170. phenotype.
269160. phenotype.
Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
799. Schizencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA35789.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 332332Homeobox protein SIX3PRO_0000049299Add
BLAST

Proteomic databases

PaxDbiO95343.
PRIDEiO95343.

PTM databases

PhosphoSiteiO95343.

Expressioni

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

BgeeiO95343.
CleanExiHS_SIX3.
ExpressionAtlasiO95343. baseline and differential.
GenevestigatoriO95343.

Interactioni

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

Protein-protein interaction databases

BioGridi112387. 5 interactions.
STRINGi9606.ENSP00000260653.

Structurei

3D structure databases

ProteinModelPortaliO95343.
SMRiO95343. Positions 79-267.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni72 – 11948Interaction with AESBy similarityAdd
BLAST
Regioni232 – 2343Bind to RHO promoterBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi33 – 6937Gly-richPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the SIX/Sine oculis homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG244436.
GeneTreeiENSGT00540000070251.
HOGENOMiHOG000261680.
HOVERGENiHBG003609.
InParanoidiO95343.
OMAiSSMTERV.
OrthoDBiEOG7C5M8Z.
PhylomeDBiO95343.
TreeFamiTF315545.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

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
Checksum:i21EA07F6A2DD978F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → C in SCHZC AND HPE2; moderately decreased repression activity on BMP2. 2 Publications
VAR_071335
Natural varianti69 – 691G → D in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_038418
Natural varianti79 – 791M → V in HPE2. 1 Publication
VAR_071336
Natural varianti92 – 921V → G in HPE2; severely decreased repression activity on BMP2 and WNT1. 1 Publication
VAR_023797
Natural varianti93 – 931A → D in HPE2; severely decreased repression activity on BMP2 and WNT1. 1 Publication
VAR_071337
Natural varianti105 – 1051I → V in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_023798
Natural varianti113 – 1131W → C in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071338
Natural varianti114 – 1141S → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071339
Natural varianti138 – 1381V → D in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071340
Natural varianti155 – 1551Missing in HPE2. 1 Publication
VAR_071341
Natural varianti157 – 1571F → I in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071342
Natural varianti167 – 1671A → S in SCHZC. 1 Publication
VAR_071343
Natural varianti172 – 1721A → V in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071344
Natural varianti173 – 1731H → P in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_023799
Natural varianti174 – 1741Y → H in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071345
Natural varianti202 – 2021T → I in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_023800
Natural varianti213 – 2131F → V in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071346
Natural varianti218 – 2181R → P in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071347
Natural varianti218 – 2181R → W in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071348
Natural varianti226 – 2261L → V in HPE2; mildly decreased repression activity on BMP2. 1 Publication
VAR_003771
Natural varianti227 – 2271Q → P in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071349
Natural varianti231 – 2311P → R in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_023801
Natural varianti244 – 2441G → C in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071350
Natural varianti250 – 2501V → A in HPE2; moderately decreased repression activity on BMP2; Significantly decreased its ability to activate NR4A3. 2 Publications
VAR_003772
Natural varianti254 – 2541F → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071351
Natural varianti257 – 2571R → G in HPE2. 1 Publication
VAR_071352
Natural varianti257 – 2571R → P in HPE2; mildly decreased repression activity on BMP2; Significantly decreased interaction with NR4A3; Significantly decreased its ability to activate NR4A3. 2 Publications
VAR_003773
Natural varianti257 – 2571R → W in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_023802
Natural varianti258 – 2581R → L in HPE2; severely decreased repression activity on BMP2. 1 Publication
VAR_071353
Natural varianti262 – 2621R → H in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071354
Natural varianti269 – 2691R → M in HPE2. 1 Publication
VAR_071355
Natural varianti269 – 2691R → S in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071356
Natural varianti269 – 2691R → T in HPE2. 1 Publication
VAR_071357
Natural varianti297 – 2971P → L in HPE2; moderately decreased repression activity on BMP2. 1 Publication
VAR_071358

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.

Genome annotation databases

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

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 .
CCDSi CCDS1821.1.
RefSeqi NP_005404.1. NM_005413.3.
UniGenei Hs.567336.

3D structure databases

ProteinModelPortali O95343.
SMRi O95343. Positions 79-267.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112387. 5 interactions.
STRINGi 9606.ENSP00000260653.

PTM databases

PhosphoSitei O95343.

Proteomic databases

PaxDbi O95343.
PRIDEi O95343.

Protocols and materials databases

DNASUi 6496.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260653 ; ENSP00000260653 ; ENSG00000138083 .
GeneIDi 6496.
KEGGi hsa:6496.
UCSCi uc002run.2. human.

Organism-specific databases

CTDi 6496.
GeneCardsi GC02P045168.
GeneReviewsi SIX3.
H-InvDB HIX0161628.
HGNCi HGNC:10889. SIX3.
MIMi 157170. phenotype.
269160. phenotype.
603714. gene.
neXtProti NX_O95343.
Orphaneti 93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
799. Schizencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA35789.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG244436.
GeneTreei ENSGT00540000070251.
HOGENOMi HOG000261680.
HOVERGENi HBG003609.
InParanoidi O95343.
OMAi SSMTERV.
OrthoDBi EOG7C5M8Z.
PhylomeDBi O95343.
TreeFami TF315545.

Miscellaneous databases

ChiTaRSi SIX3. human.
GeneWikii SIX3.
GenomeRNAii 6496.
NextBioi 25251.
PROi O95343.
SOURCEi Search...

Gene expression databases

Bgeei O95343.
CleanExi HS_SIX3.
ExpressionAtlasi O95343. baseline and differential.
Genevestigatori O95343.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene."
    Granadino B., Gallardo M.E., Lopez-Rios J., Sanz R., Ramos C., Ayuso C., Bovolenta P., Rodriguez de Cordoba S.
    Genomics 55:100-105(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Sequence and location of SIX3, a homeobox gene expressed in the human eye."
    Leppert G.S., Yang J.-M., Sundin O.H.
    Ophthalmic Genet. 20:7-21(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "SIX3, a member of the Sine oculis/Six family of transcription factors, is expressed in the developing and adult human eye."
    Clark B.J., Hanson I.M., Brown A.G., Ferrier R.K., Prosser J., van Heyningen V.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas."
    Laflamme C., Filion C., Bridge J.A., Ladanyi M., Goldring M.B., Labelle Y.
    Cancer Res. 63:449-454(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NR4A3.
  8. "Six3 and Six6 activity is modulated by members of the groucho family."
    Lopez-Rios J., Tessmar K., Loosli F., Wittbrodt J., Bovolenta P.
    Development 130:185-195(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TLE1 AND AES, MUTAGENESIS OF PHE-87; VAL-95 AND LEU-99.
  9. "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1."
    Laflamme C., Filion C., Labelle Y.
    Hum. Mutat. 24:502-508(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HPE2 ALA-250 AND PRO-257.
  10. "Direct interaction of geminin and Six3 in eye development."
    Del Bene F., Tessmar-Raible K., Wittbrodt J.
    Nature 427:745-749(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GMNN.
  11. "Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development."
    Gaston-Massuet C., Andoniadou C.L., Signore M., Sajedi E., Bird S., Turner J.M., Martinez-Barbera J.P.
    Dev. Biol. 324:322-333(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  12. "Mutations in the human SIX3 gene in holoprosencephaly are loss of function."
    Domene S., Roessler E., El-Jaick K.B., Snir M., Brown J.L., Velez J.I., Bale S., Lacbawan F., Muenke M., Feldman B.
    Hum. Mol. Genet. 17:3919-3928(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN EYE DEVELOPMENT AND FOREBRAIN DORSAL/VENTRAL PATTERN FORMATION, INVOLVEMENT IN HPE2, VARIANTS HPE2 CYS-37; ASP-93; CYS-113; LEU-114; ASP-138; ILE-157; VAL-172; HIS-174; VAL-213; TRP-218; PRO-218; PRO-227; CYS-244; LEU-254; LEU-258; HIS-262; SER-269 AND LEU-297, CHARACTERIZATION OF VARIANTS HPE2 CYS-37; ASP-69; GLY92; ASP-93; VAL-105; CYS-113; LEU-114; ASP-138; ILE-157; VAL-172; PRO-173; HIS-174; ILE-202 VAL-213; TRP-218; PRO-218; VAL-226; PRO-227; ARG-231; CYS-244; ALA-250; LEU-254; PRO-257; TRP-257; LEU-258; HIS-262; SER-269 AND LEU-297.
  13. Cited for: VARIANTS HPE2 VAL-226; ALA-250 AND PRO-257.
  14. "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."
    Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F., Durou M.-R., Odent S., David V.
    Hum. Mutat. 24:43-51(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPE2 GLY-92; VAL-105; PRO-173; ILE-202; ARG-231 AND TRP-257.
  15. Cited for: VARIANT HPE2 ASP-69.
  16. Cited for: VARIANTS HPE2 VAL-79; HIS-155 DEL; GLY-257; MET-269 AND THR-269.
  17. "Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly."
    Hehr U., Pineda-Alvarez D.E., Uyanik G., Hu P., Zhou N., Hehr A., Schell-Apacik C., Altus C., Daumer-Haas C., Meiner A., Steuernagel P., Roessler E., Winkler J., Muenke M.
    Hum. Genet. 127:555-561(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCHZC, VARIANTS SCHZC CYS-37 AND SER-167.

Entry informationi

Entry nameiSIX3_HUMAN
AccessioniPrimary (citable) accession number: O95343
Secondary accession number(s): D6W5A5, Q53T42
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1999
Last modified: November 26, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3