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Protein

Homeobox protein SIX6

Gene

SIX6

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

Functioni

May be involved in eye development.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi128 – 187HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • eye development Source: InterPro
  • visual perception Source: ProtInc

Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

SIGNORiO95475

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
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000184302.6
HGNCiHGNC:10892 SIX6
MIMi606326 gene
neXtProtiNX_O95475

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Optic disk anomalies with retinal and/or macular dystrophy (ODRMD)1 Publication
The disease is caused by mutations 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.
See also OMIM:212550

Keywords - Diseasei

Cataract, Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi4990
GeneReviewsiSIX6
MalaCardsiSIX6
MIMi212550 phenotype
OpenTargetsiENSG00000184302
Orphaneti264200 14q22q23 microdeletion syndrome
2543 Microphthalmia - cataract
PharmGKBiPA35792

Polymorphism and mutation databases

BioMutaiSIX6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000493071 – 246Homeobox protein SIX6Add BLAST246

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei212PhosphothreonineCombined sources1
Modified residuei221PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei228PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95475
MaxQBiO95475
PaxDbiO95475
PeptideAtlasiO95475
PRIDEiO95475

PTM databases

iPTMnetiO95475
PhosphoSitePlusiO95475

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000184302
CleanExiHS_SIX6
GenevisibleiO95475 HS

Organism-specific databases

HPAiHPA001403

Interactioni

Subunit structurei

Interacts with TLE4 and AES.By similarity

Protein-protein interaction databases

BioGridi111034, 3 interactors
STRINGi9606.ENSP00000328596

Structurei

3D structure databases

ProteinModelPortaliO95475
SMRiO95475
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SIX/Sine oculis homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0775 Eukaryota
ENOG410XRPB LUCA
GeneTreeiENSGT00540000070251
HOGENOMiHOG000261680
HOVERGENiHBG003609
InParanoidiO95475
KOiK19473
OMAiRPAGICC
OrthoDBiEOG091G083I
PhylomeDBiO95475
TreeFamiTF315545

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR031701 SIX1_SD
IPR032947 SIX6
PANTHERiPTHR10390:SF12 PTHR10390:SF12, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF16878 SIX1_SD, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

O95475-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:246
Mass (Da):27,687
Last modified:October 3, 2006 - v2
Checksum:i5378438C9DE8C597
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031631141H → N5 PublicationsCorresponds to variant dbSNP:rs33912345Ensembl.1
Natural variantiVAR_026241165T → A Found in a patient with bilateral asymmetric microphthalmia, cataract and nystagmus; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894480Ensembl.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
CCDSiCCDS9747.1
RefSeqiNP_031400.2, NM_007374.2
UniGeneiHs.194756

Genome annotation databases

EnsembliENST00000327720; ENSP00000328596; ENSG00000184302
GeneIDi4990
KEGGihsa:4990
UCSCiuc001xfa.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSIX6_HUMAN
AccessioniPrimary (citable) accession number: O95475
Secondary accession number(s): Q6NT42, Q9P1X8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 3, 2006
Last modified: March 28, 2018
This is version 152 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health