Q9NPC8 (SIX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein SIX2

Alternative name(s):
Sine oculis homeobox homolog 2

Gene names

Name:

SIX2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	291 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Sequence similarities	Belongs to the SIX/Sine oculis homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc cell proliferation Inferred from electronic annotation. Source: Compara chondrocyte differentiation Inferred from electronic annotation. Source: Compara embryonic cranial skeleton morphogenesis Inferred from electronic annotation. Source: Compara kidney development Inferred from mutant phenotype PubMed 18305125. Source: UniProtKB mesenchymal to epithelial transition involved in metanephros morphogenesis Inferred from electronic annotation. Source: Compara mesodermal cell fate specification Inferred from electronic annotation. Source: Compara middle ear morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara protein import into nucleus Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 291	291	Homeobox protein SIX2		PRO_0000049297
Regions
	DNA binding	124 – 183	60	Homeobox

Sequences

	Sequence		Length	Mass (Da)
	Q9NPC8 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 8388C3C331575BDD	FASTA	291	32,286
	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

References

	« Hide 'large scale' referencesShow '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].
+	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.
IPI	IPI00299333.
RefSeq	NP_058628.3. NM_016932.4.
UniGene	Hs.101937.
3D structure databases
ProteinModelPortal	Q9NPC8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000304502.
Polymorphism databases
DMDM	12230598.
Proteomic databases
PaxDb	Q9NPC8.
PRIDE	Q9NPC8.
Protocols and materials databases
DNASU	10736.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303077; ENSP00000304502; ENSG00000170577.
GeneID	10736.
KEGG	hsa:10736.
UCSC	uc002ruo.3. human.
Organism-specific databases
CTD	10736.
GeneCards	GC02M045232.
HGNC	HGNC:10888. SIX2.
HPA	HPA052782.
MIM	604994. gene.
neXtProt	NX_Q9NPC8.
PharmGKB	PA35788.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG289502.
HOGENOM	HOG000261680.
HOVERGEN	HBG003609.
InParanoid	Q9NPC8.
OMA	PLSASMN.
OrthoDB	EOG4RJG27.
PhylomeDB	Q9NPC8.
Gene expression databases
Bgee	Q9NPC8.
CleanEx	HS_SIX2.
Genevestigator	Q9NPC8.
GermOnline	ENSG00000170577. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10736.
NextBio	40762.
SOURCE	Search...

Entry information

Entry name

SIX2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 101 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.