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O95475 (SIX6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein SIX6
Alternative name(s):
Homeodomain protein OPTX2
Optic homeobox 2
Sine oculis homeobox homolog 6
Gene names
Name:SIX6
Synonyms:OPTX2, SIX9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length246 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in eye development.

Subcellular location

Nucleus By similarity.

Tissue specificity

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

Involvement in disease

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. Ref.7

Sequence similarities

Belongs to the SIX/Sine oculis homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseCataract
Disease mutation
Microphthalmia
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processorgan morphogenesis

Traceable author statement Ref.3. Source: ProtInc

visual perception

Traceable author statement Ref.3. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 246246Homeobox protein SIX6
PRO_0000049307

Regions

DNA binding128 – 18760Homeobox

Amino acid modifications

Modified residue2121Phosphothreonine Ref.6
Modified residue2211Phosphoserine Ref.6
Modified residue2251Phosphoserine Ref.6
Modified residue2271Phosphoserine Ref.6
Modified residue2281Phosphoserine Ref.6

Natural variations

Natural variant1411H → N. Ref.1 Ref.2 Ref.3 Ref.4 Ref.7
Corresponds to variant rs33912345 [ dbSNP | Ensembl ].
VAR_031631
Natural variant1651T → A in MCOPCT2. Ref.7
VAR_026241

Sequences

Sequence LengthMass (Da)Tools
O95475 [UniParc].

Last modified October 3, 2006. Version 2.
Checksum: 5378438C9DE8C597

FASTA24627,687
        10         20         30         40         50         60 
MFQLPILNFS PQQVAGVCET LEESGDVERL GRFLWSLPVA PAACEALNKN ESVLRARAIV 

        70         80         90        100        110        120 
AFHGGNYREL YHILENHKFT KESHAKLQAL WLEAHYQEAE KLRGRPLGPV DKYRVRKKFP 

       130        140        150        160        170        180 
LPRTIWDGEQ KTHCFKERTR HLLREWYLQD PYPNPSKKRE LAQATGLTPT QVGNWFKNRR 

       190        200        210        220        230        240 
QRDRAAAAKN RLQQQVLSQG SGRALRAEGD GTPEVLGVAT SPAASLSSKA ATSAISITSS 


DSECDI 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9747.1.
RefSeqNP_031400.2. NM_007374.2.
UniGeneHs.194756.

3D structure databases

ProteinModelPortalO95475.
SMRO95475. Positions 1-189.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111034. 4 interactions.
STRING9606.ENSP00000328596.

PTM databases

PhosphoSiteO95475.

Proteomic databases

MaxQBO95475.
PaxDbO95475.
PRIDEO95475.

Protocols and materials databases

DNASU4990.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000327720; ENSP00000328596; ENSG00000184302.
GeneID4990.
KEGGhsa:4990.
UCSCuc001xfa.4. human.

Organism-specific databases

CTD4990.
GeneCardsGC14P060975.
GeneReviewsSIX6.
HGNCHGNC:10892. SIX6.
HPAHPA001403.
MIM212550. phenotype.
606326. gene.
neXtProtNX_O95475.
Orphanet264200. 14q22q23 microdeletion syndrome.
2543. Microphthalmia - cataract.
PharmGKBPA35792.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244436.
HOGENOMHOG000261680.
HOVERGENHBG003609.
InParanoidO95475.
OMATASMFQL.
OrthoDBEOG7C5M8Z.
PhylomeDBO95475.
TreeFamTF315545.

Gene expression databases

ArrayExpressO95475.
BgeeO95475.
CleanExHS_SIX6.
GenevestigatorO95475.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi4990.
NextBio19216.
PROO95475.
SOURCESearch...

Entry information

Entry nameSIX6_HUMAN
AccessionPrimary (citable) accession number: O95475
Secondary accession number(s): Q6NT42, Q9P1X8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM