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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

May be involved in visual system development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi206 – 26560Homeobox
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  2. sequence-specific DNA binding Source: Ensembl

GO - Biological processi

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

Keywords - Molecular functioni

Developmental protein

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

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691G → D in HPE2. 1 Publication
VAR_038418
Natural varianti92 – 921V → G in HPE2. 1 Publication
VAR_023797
Natural varianti105 – 1051I → V in HPE2. 1 Publication
VAR_023798
Natural varianti173 – 1731H → P in HPE2. 1 Publication
VAR_023799
Natural varianti202 – 2021T → I in HPE2. 1 Publication
VAR_023800
Natural varianti226 – 2261L → V in HPE2. 1 Publication
VAR_003771
Natural varianti231 – 2311P → R in HPE2. 1 Publication
VAR_023801
Natural varianti250 – 2501V → A in HPE2. 1 Publication
VAR_003772
Natural varianti257 – 2571R → P in HPE2. 1 Publication
VAR_003773
Natural varianti257 – 2571R → W in HPE2. 1 Publication
VAR_023802

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

MIMi157170. 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 SIX3
PRO_0000049299Add
BLAST

Proteomic databases

PaxDbiO95343.
PRIDEiO95343.

PTM databases

PhosphoSiteiO95343.

Expressioni

Gene expression databases

ArrayExpressiO95343.
BgeeiO95343.
CleanExiHS_SIX3.
GenevestigatoriO95343.

Interactioni

Protein-protein interaction databases

BioGridi112387. 5 interactions.
STRINGi9606.ENSP00000260653.

Structurei

3D structure databases

ProteinModelPortaliO95343.
SMRiO95343. Positions 79-267.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi33 – 6937Poly-Gly
Add
BLAST
Compositional biasi263 – 2664Poly-Ala

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG244436.
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

MVFRSPLDLY SSHFLLPNFA DSHHRSILLA SSGGGNGAGG GGGAGGGSGG    50
GNGAGGGGAG GAGGGGGGGS RAPPEELSMF QLPTLNFSPE QVASVCETLE 100
ETGDIERLGR FLWSLPVAPG ACEAINKHES ILRARAVVAF HTGNFRDLYH 150
ILENHKFTKE SHGKLQAMWL EAHYQEAEKL RGRPLGPVDK YRVRKKFPLP 200
RTIWDGEQKT HCFKERTRSL LREWYLQDPY PNPSKKRELA QATGLTPTQV 250
GNWFKNRRQR DRAAAAKNRL QHQAIGPSGM RSLAEPGCPT HGSAESPSTA 300
ASPTTSVSSL TERADTGTSI LSVTSSDSEC DV 332
Length:332
Mass (Da):35,487
Last modified:May 1, 1999 - v1
Checksum:i21EA07F6A2DD978F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691G → D in HPE2. 1 Publication
VAR_038418
Natural varianti92 – 921V → G in HPE2. 1 Publication
VAR_023797
Natural varianti105 – 1051I → V in HPE2. 1 Publication
VAR_023798
Natural varianti173 – 1731H → P in HPE2. 1 Publication
VAR_023799
Natural varianti202 – 2021T → I in HPE2. 1 Publication
VAR_023800
Natural varianti226 – 2261L → V in HPE2. 1 Publication
VAR_003771
Natural varianti231 – 2311P → R in HPE2. 1 Publication
VAR_023801
Natural varianti250 – 2501V → A in HPE2. 1 Publication
VAR_003772
Natural varianti257 – 2571R → P in HPE2. 1 Publication
VAR_003773
Natural varianti257 – 2571R → W in HPE2. 1 Publication
VAR_023802

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
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.
HOGENOMi HOG000261680.
HOVERGENi HBG003609.
InParanoidi O95343.
OMAi SSMTERV.
OrthoDBi EOG7C5M8Z.
PhylomeDBi O95343.
TreeFami TF315545.

Miscellaneous databases

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

Gene expression databases

ArrayExpressi O95343.
Bgeei O95343.
CleanExi HS_SIX3.
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. Cited for: VARIANTS HPE2 VAL-226; ALA-250 AND PRO-257.
  8. "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.
  9. Cited for: VARIANT HPE2 ASP-69.

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: July 9, 2014
This is version 123 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

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