Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9NPC8 (SIX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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 SIX2
Alternative name(s):
Sine oculis homeobox homolog 2
Gene names
Name:SIX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length291 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in limb tendon and ligament development By similarity.

Subcellular location

Nucleus.

Tissue specificity

Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level). Ref.5

Sequence similarities

Belongs to the SIX/Sine oculis homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

cell proliferation

Inferred from electronic annotation. Source: Ensembl

chondrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

embryonic cranial skeleton morphogenesis

Inferred from electronic annotation. Source: Ensembl

kidney development

Inferred from mutant phenotype PubMed 18305125. Source: UniProtKB

mesenchymal to epithelial transition involved in metanephros morphogenesis

Inferred from electronic annotation. Source: Ensembl

mesodermal cell fate specification

Inferred from electronic annotation. Source: Ensembl

middle ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

protein import into nucleus

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 291291Homeobox protein SIX2
PRO_0000049297

Regions

DNA binding124 – 18360Homeobox

Sequences

Sequence LengthMass (Da)Tools
Q9NPC8 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8388C3C331575BDD

FASTA29132,286
        10         20         30         40         50         60 
MSMLPTFGFT QEQVACVCEV LQQGGNIERL GRFLWSLPAC EHLHKNESVL KAKAVVAFHR 

        70         80         90        100        110        120 
GNFRELYKIL ESHQFSPHNH AKLQQLWLKA HYIEAEKLRG RPLGAVGKYR VRRKFPLPRS 

       130        140        150        160        170        180 
IWDGEETSYC FKEKSRSVLR EWYAHNPYPS PREKRELAEA TGLTTTQVSN WFKNRRQRDR 

       190        200        210        220        230        240 
AAEAKERENN ENSNSNSHNP LNGSGKSVLG SSEDEKTPSG TPDHSSSSPA LLLSPPPPGL 

       250        260        270        280        290 
PSLHSLGHPP GPSAVPVPVP GGGGADPLQH HHGLQDSILN PMSANLVDLG S 

« Hide

References

« Hide 'large scale' references
[1]"Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2."
Boucher C.A., Winchester C.L., Hamilton G.M., Winter A.D., Johnson K.J., Bailey M.E.S.
Gene 247:145-151(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]"Molecular characterization of the human SIX2 gene: alternative polyadenylation and localization within the HPE2 critical region 2p21."
Hedrich K., Hehr A.J., Hansmann I., Hehr U.
Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Tissue: Salivary gland.
[3]"Familial syndromic esophageal atresia maps to 2p23-p24."
Celli J., Van Beusekom E., Hennekam R.C.M., Gallardo M.E., Smeets D.F.C.M., Rodriguez de Cordoba S., Innis J.W., Frydman M., Konig R., Kingston H., Tolmie J., Lutgarde L.C.P., van Bokhoven H., Brunner H.G.
Am. J. Hum. Genet. 66:436-444(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor."
Murphy A.J., Pierce J., de Caestecker C., Taylor C., Anderson J.R., Perantoni A.O., de Caestecker M.P., Lovvorn H.N. III
J. Pediatr. Surg. 47:1239-1249(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF136939 Genomic DNA. Translation: AAF69031.1.
AF136940 mRNA. Translation: AAF69032.1.
AF332196 mRNA. Translation: AAK16581.1.
AF332197 mRNA. Translation: AAK16582.1.
AF332198 Genomic DNA. Translation: AAK16583.1.
AF323498 Genomic DNA. Translation: AAK06773.1.
BT020100 mRNA. Translation: AAV38903.1.
RefSeqNP_058628.3. NM_016932.4.
UniGeneHs.101937.

3D structure databases

ProteinModelPortalQ9NPC8.
SMRQ9NPC8. Positions 1-185.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115959. 1 interaction.
STRING9606.ENSP00000304502.

Polymorphism databases

DMDM12230598.

Proteomic databases

PaxDbQ9NPC8.
PRIDEQ9NPC8.

Protocols and materials databases

DNASU10736.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303077; ENSP00000304502; ENSG00000170577.
GeneID10736.
KEGGhsa:10736.
UCSCuc002ruo.3. human.

Organism-specific databases

CTD10736.
GeneCardsGC02M045232.
HGNCHGNC:10888. SIX2.
HPAHPA052782.
MIM604994. gene.
neXtProtNX_Q9NPC8.
PharmGKBPA35788.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289502.
HOGENOMHOG000261680.
HOVERGENHBG003609.
InParanoidQ9NPC8.
OMAPLSASMN.
OrthoDBEOG7C5M8Z.
PhylomeDBQ9NPC8.
TreeFamTF315545.

Gene expression databases

BgeeQ9NPC8.
CleanExHS_SIX2.
GenevestigatorQ9NPC8.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSIX2.
GenomeRNAi10736.
NextBio40762.
PROQ9NPC8.
SOURCESearch...

Entry information

Entry nameSIX2_HUMAN
AccessionPrimary (citable) accession number: Q9NPC8
Secondary accession number(s): Q9BXH7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: February 19, 2014
This is version 107 of the entry and version 1 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 chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM