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

Q9UIU6 (SIX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. 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 SIX4
Alternative name(s):
Sine oculis homeobox homolog 4
Gene names
Name:SIX4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length781 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Nucleus By similarity.

Sequence similarities

Belongs to the SIX/Sine oculis homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence BAA86223.1 differs from that shown. Reason: Erroneous initiation.

The sequence EAW80786.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

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

Traceable author statement Ref.1. Source: ProtInc

embryonic cranial skeleton morphogenesis

Inferred from electronic annotation. Source: Ensembl

generation of neurons

Inferred from electronic annotation. Source: Ensembl

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

metanephric mesenchyme development

Inferred from electronic annotation. Source: Ensembl

myoblast migration

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of branching involved in ureteric bud morphogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of ureteric bud formation

Inferred from electronic annotation. Source: Ensembl

regulation of branch elongation involved in ureteric bud branching

Inferred from electronic annotation. Source: Ensembl

regulation of protein localization

Inferred from electronic annotation. Source: Ensembl

regulation of synaptic growth at neuromuscular junction

Inferred from electronic annotation. Source: Ensembl

skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

thymus development

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

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 781780Homeobox protein SIX4
PRO_0000049303

Regions

DNA binding223 – 28260Homeobox
Compositional bias36 – 10267Ala-rich

Amino acid modifications

Modified residue21N-acetylserine Ref.6
Modified residue6401Phosphoserine Ref.5

Natural variations

Natural variant231E → Q in a breast cancer sample; somatic mutation. Ref.7
VAR_036441
Natural variant4461G → D in a breast cancer sample; somatic mutation. Ref.7
VAR_036442
Natural variant6051H → P. Ref.1 Ref.4
Corresponds to variant rs3742636 [ dbSNP | Ensembl ].
VAR_058281
Natural variant7801D → E in a breast cancer sample; somatic mutation. Ref.7
VAR_036443

Sequences

Sequence LengthMass (Da)Tools
Q9UIU6 [UniParc].

Last modified July 28, 2009. Version 2.
Checksum: 0054080AFF7BFF7E

FASTA78182,933
        10         20         30         40         50         60 
MSSSSPTGQI ASAADIKQEN GMESASEGQE AHREVAGGAA VGLSPPAPAP FPLEPGDAAT 

        70         80         90        100        110        120 
AAARVSGEEG AVAAAAAGAA ADQVQLHSEL LGRHHHAAAA AAQTPLAFSP DHVACVCEAL 

       130        140        150        160        170        180 
QQGGNLDRLA RFLWSLPQSD LLRGNESLLK ARALVAFHQG IYPELYSILE SHSFESANHP 

       190        200        210        220        230        240 
LLQQLWYKAR YTEAERARGR PLGAVDKYRL RRKFPLPRTI WDGEETVYCF KEKSRNALKE 

       250        260        270        280        290        300 
LYKQNRYPSP AEKRHLAKIT GLSLTQVSNW FKNRRQRDRN PSETQSKSES DGNPSTEDES 

       310        320        330        340        350        360 
SKGHEDLSPH PLSSSSDGIT NLSLSSHMEP VYMQQIGNAK ISLSSSGVLL NGSLVPASTS 

       370        380        390        400        410        420 
PVFLNGNSFI QGPSGVILNG LNVGNTQAVA LNPPKMSSNI VSNGISMTDI LGSTSQDVKE 

       430        440        450        460        470        480 
FKVLQSSANS ATTTSYSPSV PVSFPGLIPS TEVKREGIQT VASQDGGSVV TFTTPVQINQ 

       490        500        510        520        530        540 
YGIVQIPNSG ANSQFLNGSI GFSPLQLPPV SVAASQGNIS VSSSTSDGST FTSESTTVQQ 

       550        560        570        580        590        600 
GKVFLSSLAP SAVVYTVPNT GQTIGSVKQE GLERSLVFSQ LMPVNQNAQV NANLSSENIS 

       610        620        630        640        650        660 
GSGLHPLASS LVNVSPTHNF SLSPSTLLNP TELNRDIADS QPMSAPVASK STVTSVSNTN 

       670        680        690        700        710        720 
YATLQNCSLI TGQDLLSVPM TQAALGEIVP TAEDQVGHPS PAVHQDFVQE HRLVLQSVAN 

       730        740        750        760        770        780 
MKENFLSNSE SKATSSLMML DSKSKYVLDG MVDTVCEDLE TDKKELAKLQ TVQLDEDMQD 


L 

« Hide

References

« Hide 'large scale' references
[1]"Structure and chromosome mapping of the human SIX4 and murine Six4 genes."
Ozaki H., Yamada K., Kobayashi M., Asakawa S., Minoshima S., Shimizu N., Kajitani M., Kawakami K.
Cytogenet. Cell Genet. 87:108-112(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-605.
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] OF 22-781, VARIANT PRO-605.
[5]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-640, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[6]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-23; ASP-446 AND GLU-780.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB024687 Genomic DNA. Translation: BAA86223.1. Different initiation.
AL132777 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80786.1. Different initiation.
BC098135 mRNA. Translation: AAH98135.1.
BC098282 mRNA. Translation: AAH98282.1.
BC099722 mRNA. Translation: AAH99722.1.
BC101934 mRNA. Translation: AAI01935.1.
CCDSCCDS9749.2.
RefSeqNP_059116.3. NM_017420.4.
UniGeneHs.690393.
Hs.97849.

3D structure databases

ProteinModelPortalQ9UIU6.
SMRQ9UIU6. Positions 106-279.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119730. 3 interactions.
IntActQ9UIU6. 1 interaction.
MINTMINT-7949397.
STRING9606.ENSP00000216513.

PTM databases

PhosphoSiteQ9UIU6.

Polymorphism databases

DMDM254763333.

Proteomic databases

MaxQBQ9UIU6.
PaxDbQ9UIU6.
PRIDEQ9UIU6.

Protocols and materials databases

DNASU51804.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216513; ENSP00000216513; ENSG00000100625.
GeneID51804.
KEGGhsa:51804.
UCSCuc001xfc.3. human.

Organism-specific databases

CTD51804.
GeneCardsGC14M061176.
H-InvDBHIX0037650.
HGNCHGNC:10890. SIX4.
HPAHPA031794.
MIM606342. gene.
neXtProtNX_Q9UIU6.
PharmGKBPA35790.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244874.
HOGENOMHOG000261651.
HOVERGENHBG017802.
InParanoidQ9UIU6.
KOK15615.
OMAIKQENGM.
OrthoDBEOG7C5M8Z.
PhylomeDBQ9UIU6.
TreeFamTF315545.

Enzyme and pathway databases

SignaLinkQ9UIU6.

Gene expression databases

ArrayExpressQ9UIU6.
BgeeQ9UIU6.
CleanExHS_SIX4.
GenevestigatorQ9UIU6.

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

GeneWikiSIX4.
GenomeRNAi51804.
NextBio55920.
PROQ9UIU6.
SOURCESearch...

Entry information

Entry nameSIX4_HUMAN
AccessionPrimary (citable) accession number: Q9UIU6
Secondary accession number(s): Q4QQH5, Q4V764
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: July 28, 2009
Last modified: July 9, 2014
This is version 111 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