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O95475

- SIX6_HUMAN

UniProt

O95475 - SIX6_HUMAN

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Protein
Homeobox protein SIX6
Gene
SIX6, OPTX2, SIX9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May be involved in eye development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi128 – 18760Homeobox
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. organ morphogenesis Source: ProtInc
  2. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein SIX6
Alternative name(s):
Homeodomain protein OPTX2
Optic homeobox 2
Sine oculis homeobox homolog 6
Gene namesi
Name:SIX6
Synonyms:OPTX2, SIX9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10892. SIX6.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, isolated, with cataract, 2 (MCOPCT2) [MIM:212550]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651T → A in MCOPCT2. 1 Publication
VAR_026241

Keywords - Diseasei

Cataract, Disease mutation, Microphthalmia

Organism-specific databases

MIMi212550. phenotype.
Orphaneti264200. 14q22q23 microdeletion syndrome.
2543. Microphthalmia - cataract.
PharmGKBiPA35792.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 246246Homeobox protein SIX6
PRO_0000049307Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei212 – 2121Phosphothreonine1 Publication
Modified residuei221 – 2211Phosphoserine1 Publication
Modified residuei225 – 2251Phosphoserine1 Publication
Modified residuei227 – 2271Phosphoserine1 Publication
Modified residuei228 – 2281Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO95475.
PaxDbiO95475.
PRIDEiO95475.

PTM databases

PhosphoSiteiO95475.

Expressioni

Tissue specificityi

Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.

Gene expression databases

ArrayExpressiO95475.
BgeeiO95475.
CleanExiHS_SIX6.
GenevestigatoriO95475.

Organism-specific databases

HPAiHPA001403.

Interactioni

Protein-protein interaction databases

BioGridi111034. 4 interactions.
STRINGi9606.ENSP00000328596.

Structurei

3D structure databases

ProteinModelPortaliO95475.
SMRiO95475. Positions 1-189.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG244436.
HOGENOMiHOG000261680.
HOVERGENiHBG003609.
InParanoidiO95475.
OMAiTASMFQL.
OrthoDBiEOG7C5M8Z.
PhylomeDBiO95475.
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.

O95475-1 [UniParc]FASTAAdd to Basket

« Hide

MFQLPILNFS PQQVAGVCET LEESGDVERL GRFLWSLPVA PAACEALNKN    50
ESVLRARAIV AFHGGNYREL YHILENHKFT KESHAKLQAL WLEAHYQEAE 100
KLRGRPLGPV DKYRVRKKFP LPRTIWDGEQ KTHCFKERTR HLLREWYLQD 150
PYPNPSKKRE LAQATGLTPT QVGNWFKNRR QRDRAAAAKN RLQQQVLSQG 200
SGRALRAEGD GTPEVLGVAT SPAASLSSKA ATSAISITSS DSECDI 246
Length:246
Mass (Da):27,687
Last modified:October 3, 2006 - v2
Checksum:i5378438C9DE8C597
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411H → N.5 Publications
Corresponds to variant rs33912345 [ dbSNP | Ensembl ].
VAR_031631
Natural varianti165 – 1651T → A in MCOPCT2. 1 Publication
VAR_026241

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS9747.1.
RefSeqiNP_031400.2. NM_007374.2.
UniGeneiHs.194756.

Genome annotation databases

EnsembliENST00000327720; ENSP00000328596; ENSG00000184302.
GeneIDi4990.
KEGGihsa:4990.
UCSCiuc001xfa.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.194756.

3D structure databases

ProteinModelPortali O95475.
SMRi O95475. Positions 1-189.
ModBasei Search...

Protein-protein interaction databases

BioGridi 111034. 4 interactions.
STRINGi 9606.ENSP00000328596.

PTM databases

PhosphoSitei O95475.

Proteomic databases

MaxQBi O95475.
PaxDbi O95475.
PRIDEi O95475.

Protocols and materials databases

DNASUi 4990.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327720 ; ENSP00000328596 ; ENSG00000184302 .
GeneIDi 4990.
KEGGi hsa:4990.
UCSCi uc001xfa.4. human.

Organism-specific databases

CTDi 4990.
GeneCardsi GC14P060975.
GeneReviewsi SIX6.
HGNCi HGNC:10892. SIX6.
HPAi HPA001403.
MIMi 212550. phenotype.
606326. gene.
neXtProti NX_O95475.
Orphaneti 264200. 14q22q23 microdeletion syndrome.
2543. Microphthalmia - cataract.
PharmGKBi PA35792.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG244436.
HOGENOMi HOG000261680.
HOVERGENi HBG003609.
InParanoidi O95475.
OMAi TASMFQL.
OrthoDBi EOG7C5M8Z.
PhylomeDBi O95475.
TreeFami TF315545.

Miscellaneous databases

GenomeRNAii 4990.
NextBioi 19216.
PROi O95475.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95475.
Bgeei O95475.
CleanExi HS_SIX6.
Genevestigatori O95475.

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. "OPTX2, a novel gene expressed in the eye, belongs to a cluster of sine oculis-related homeobox genes."
    Leppert G.S., Yang J.-M., Toy J., Sundin O.H.
    Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-141.
    Tissue: Eye.
  2. "Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development."
    Lopez-Rios J., Gallardo E., Rodriguez de Cordoba S., Bovolenta P.
    Mech. Dev. 83:155-159(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-141.
  3. "Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies."
    Gallardo M.E., Lopez-Rios J., Fernaud-Espinosa I., Granadino B., Sanz R., Ramos C., Ayuso C., Seller M.J., Brunner H.G., Bovolenta P., Rodriguez de Cordoba S.
    Genomics 61:82-91(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-141.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-141.
  5. "Human-specific amino acid changes found in 103 protein-coding genes."
    Kitano T., Liu Y.-H., Ueda S., Saitou N.
    Mol. Biol. Evol. 21:936-944(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-165.
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-212; SER-221; SER-225; SER-227 AND SER-228, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia."
    Gallardo M.E., Rodriguez De Cordoba S., Schneider A.S., Dwyer M.A., Ayuso C., Bovolenta P.
    Am. J. Med. Genet. A 129:92-94(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCOPCT2 ALA-165, VARIANT ASN-141.

Entry informationi

Entry nameiSIX6_HUMAN
AccessioniPrimary (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: July 9, 2014
This is version 124 of the entry and version 2 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 14
    Human chromosome 14: 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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