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Q9UIU6

- SIX4_HUMAN

UniProt

Q9UIU6 - SIX4_HUMAN

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Protein

Homeobox protein SIX4

Gene

SIX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi223 – 28260HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: Ensembl
  2. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. embryonic cranial skeleton morphogenesis Source: Ensembl
  3. generation of neurons Source: Ensembl
  4. inner ear morphogenesis Source: Ensembl
  5. metanephric mesenchyme development Source: Ensembl
  6. myoblast migration Source: Ensembl
  7. negative regulation of neuron apoptotic process Source: Ensembl
  8. positive regulation of branching involved in ureteric bud morphogenesis Source: Ensembl
  9. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  10. positive regulation of ureteric bud formation Source: Ensembl
  11. regulation of branch elongation involved in ureteric bud branching Source: Ensembl
  12. regulation of protein localization Source: Ensembl
  13. regulation of synaptic growth at neuromuscular junction Source: Ensembl
  14. skeletal muscle tissue development Source: Ensembl
  15. thymus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ9UIU6.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein SIX4
Alternative name(s):
Sine oculis homeobox homolog 4
Gene namesi
Name:SIX4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10890. SIX4.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35790.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 781780Homeobox protein SIX4PRO_0000049303Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei640 – 6401Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9UIU6.
PaxDbiQ9UIU6.
PRIDEiQ9UIU6.

PTM databases

PhosphoSiteiQ9UIU6.

Expressioni

Gene expression databases

BgeeiQ9UIU6.
CleanExiHS_SIX4.
ExpressionAtlasiQ9UIU6. baseline and differential.
GenevestigatoriQ9UIU6.

Organism-specific databases

HPAiHPA031794.

Interactioni

Protein-protein interaction databases

BioGridi119730. 4 interactions.
IntActiQ9UIU6. 1 interaction.
MINTiMINT-7949397.
STRINGi9606.ENSP00000216513.

Structurei

3D structure databases

ProteinModelPortaliQ9UIU6.
SMRiQ9UIU6. Positions 106-279.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi36 – 10267Ala-richAdd
BLAST

Sequence similaritiesi

Belongs to the SIX/Sine oculis homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG244874.
GeneTreeiENSGT00540000070251.
HOGENOMiHOG000261651.
HOVERGENiHBG017802.
InParanoidiQ9UIU6.
KOiK15615.
OMAiIKQENGM.
OrthoDBiEOG7C5M8Z.
PhylomeDBiQ9UIU6.
TreeFamiTF315545.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UIU6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSSSSPTGQI ASAADIKQEN GMESASEGQE AHREVAGGAA VGLSPPAPAP
60 70 80 90 100
FPLEPGDAAT AAARVSGEEG AVAAAAAGAA ADQVQLHSEL LGRHHHAAAA
110 120 130 140 150
AAQTPLAFSP DHVACVCEAL QQGGNLDRLA RFLWSLPQSD LLRGNESLLK
160 170 180 190 200
ARALVAFHQG IYPELYSILE SHSFESANHP LLQQLWYKAR YTEAERARGR
210 220 230 240 250
PLGAVDKYRL RRKFPLPRTI WDGEETVYCF KEKSRNALKE LYKQNRYPSP
260 270 280 290 300
AEKRHLAKIT GLSLTQVSNW FKNRRQRDRN PSETQSKSES DGNPSTEDES
310 320 330 340 350
SKGHEDLSPH PLSSSSDGIT NLSLSSHMEP VYMQQIGNAK ISLSSSGVLL
360 370 380 390 400
NGSLVPASTS PVFLNGNSFI QGPSGVILNG LNVGNTQAVA LNPPKMSSNI
410 420 430 440 450
VSNGISMTDI LGSTSQDVKE FKVLQSSANS ATTTSYSPSV PVSFPGLIPS
460 470 480 490 500
TEVKREGIQT VASQDGGSVV TFTTPVQINQ YGIVQIPNSG ANSQFLNGSI
510 520 530 540 550
GFSPLQLPPV SVAASQGNIS VSSSTSDGST FTSESTTVQQ GKVFLSSLAP
560 570 580 590 600
SAVVYTVPNT GQTIGSVKQE GLERSLVFSQ LMPVNQNAQV NANLSSENIS
610 620 630 640 650
GSGLHPLASS LVNVSPTHNF SLSPSTLLNP TELNRDIADS QPMSAPVASK
660 670 680 690 700
STVTSVSNTN YATLQNCSLI TGQDLLSVPM TQAALGEIVP TAEDQVGHPS
710 720 730 740 750
PAVHQDFVQE HRLVLQSVAN MKENFLSNSE SKATSSLMML DSKSKYVLDG
760 770 780
MVDTVCEDLE TDKKELAKLQ TVQLDEDMQD L
Length:781
Mass (Da):82,933
Last modified:July 28, 2009 - v2
Checksum:i0054080AFF7BFF7E
GO

Sequence cautioni

The sequence BAA86223.1 differs from that shown. Reason: Erroneous initiation.
The sequence EAW80786.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231E → Q in a breast cancer sample; somatic mutation. 1 Publication
VAR_036441
Natural varianti446 – 4461G → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_036442
Natural varianti605 – 6051H → P.2 Publications
Corresponds to variant rs3742636 [ dbSNP | Ensembl ].
VAR_058281
Natural varianti780 – 7801D → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_036443

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9749.2.
RefSeqiNP_059116.3. NM_017420.4.
UniGeneiHs.690393.
Hs.97849.

Genome annotation databases

EnsembliENST00000216513; ENSP00000216513; ENSG00000100625.
GeneIDi51804.
KEGGihsa:51804.
UCSCiuc001xfc.3. human.

Polymorphism databases

DMDMi254763333.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9749.2.
RefSeqi NP_059116.3. NM_017420.4.
UniGenei Hs.690393.
Hs.97849.

3D structure databases

ProteinModelPortali Q9UIU6.
SMRi Q9UIU6. Positions 106-279.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119730. 4 interactions.
IntActi Q9UIU6. 1 interaction.
MINTi MINT-7949397.
STRINGi 9606.ENSP00000216513.

PTM databases

PhosphoSitei Q9UIU6.

Polymorphism databases

DMDMi 254763333.

Proteomic databases

MaxQBi Q9UIU6.
PaxDbi Q9UIU6.
PRIDEi Q9UIU6.

Protocols and materials databases

DNASUi 51804.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000216513 ; ENSP00000216513 ; ENSG00000100625 .
GeneIDi 51804.
KEGGi hsa:51804.
UCSCi uc001xfc.3. human.

Organism-specific databases

CTDi 51804.
GeneCardsi GC14M061176.
H-InvDB HIX0037650.
HGNCi HGNC:10890. SIX4.
HPAi HPA031794.
MIMi 606342. gene.
neXtProti NX_Q9UIU6.
PharmGKBi PA35790.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG244874.
GeneTreei ENSGT00540000070251.
HOGENOMi HOG000261651.
HOVERGENi HBG017802.
InParanoidi Q9UIU6.
KOi K15615.
OMAi IKQENGM.
OrthoDBi EOG7C5M8Z.
PhylomeDBi Q9UIU6.
TreeFami TF315545.

Enzyme and pathway databases

SignaLinki Q9UIU6.

Miscellaneous databases

GeneWikii SIX4.
GenomeRNAii 51804.
NextBioi 55920.
PROi Q9UIU6.
SOURCEi Search...

Gene expression databases

Bgeei Q9UIU6.
CleanExi HS_SIX4.
ExpressionAtlasi Q9UIU6. baseline and differential.
Genevestigatori Q9UIU6.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-23; ASP-446 AND GLU-780.

Entry informationi

Entry nameiSIX4_HUMAN
AccessioniPrimary (citable) accession number: Q9UIU6
Secondary accession number(s): Q4QQH5, Q4V764
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: July 28, 2009
Last modified: October 29, 2014
This is version 113 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3