Q9UIU6 (SIX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein SIX4

Alternative name(s):
Sine oculis homeobox homolog 4

Gene names

Name:

SIX4

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	781 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc embryonic cranial skeleton morphogenesis Inferred from electronic annotation. Source: Compara generation of neurons Inferred from electronic annotation. Source: Compara inner ear morphogenesis Inferred from electronic annotation. Source: Compara metanephric mesenchyme development Inferred from electronic annotation. Source: Compara myoblast migration Inferred from electronic annotation. Source: Compara negative regulation of neuron apoptotic process Inferred from electronic annotation. Source: Compara positive regulation of branching involved in ureteric bud morphogenesis Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of ureteric bud formation Inferred from electronic annotation. Source: Compara regulation of branch elongation involved in ureteric bud branching Inferred from electronic annotation. Source: Compara regulation of protein localization Inferred from electronic annotation. Source: Compara regulation of synaptic growth at neuromuscular junction Inferred from electronic annotation. Source: Compara skeletal muscle tissue development Inferred from electronic annotation. Source: Compara thymus development 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 Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.6
	Chain	2 – 781	780	Homeobox protein SIX4		PRO_0000049303
Regions
	DNA binding	223 – 282	60	Homeobox
	Compositional bias	36 – 102	67	Ala-rich
Amino acid modifications
	Modified residue	2	1	N-acetylserine Ref.6
	Modified residue	640	1	Phosphoserine Ref.5
Natural variations
	Natural variant	23	1	E → Q in a breast cancer sample; somatic mutation. Ref.7		VAR_036441
	Natural variant	446	1	G → D in a breast cancer sample; somatic mutation. Ref.7		VAR_036442
	Natural variant	605	1	H → P. Ref.1 Ref.4 Corresponds to variant rs3742636 [ dbSNP | Ensembl ].		VAR_058281
	Natural variant	780	1	D → E in a breast cancer sample; somatic mutation. Ref.7		VAR_036443

Sequences

	Sequence		Length	Mass (Da)
	Q9UIU6 [UniParc]. Last modified July 28, 2009. Version 2. Checksum: 0054080AFF7BFF7E	FASTA	781	82,933
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE.
[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. , 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.
IPI	IPI00006525.
RefSeq	NP_059116.3. NM_017420.4.
UniGene	Hs.690393. Hs.97849.
3D structure databases
ProteinModelPortal	Q9UIU6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000216513.
PTM databases
PhosphoSite	Q9UIU6.
Polymorphism databases
DMDM	254763333.
Proteomic databases
PaxDb	Q9UIU6.
PRIDE	Q9UIU6.
Protocols and materials databases
DNASU	51804.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000216513; ENSP00000216513; ENSG00000100625.
GeneID	51804.
KEGG	hsa:51804.
UCSC	uc001xfc.3. human.
Organism-specific databases
CTD	51804.
GeneCards	GC14M061176.
H-InvDB	HIX0037650.
HGNC	HGNC:10890. SIX4.
HPA	HPA031794.
MIM	606342. gene.
neXtProt	NX_Q9UIU6.
PharmGKB	PA35790.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG244874.
HOGENOM	HOG000261651.
HOVERGEN	HBG017802.
InParanoid	Q9UIU6.
KO	K15615.
OMA	NAQVNAN.
OrthoDB	EOG4F7NJN.
Gene expression databases
ArrayExpress	Q9UIU6.
Bgee	Q9UIU6.
CleanEx	HS_SIX4.
Genevestigator	Q9UIU6.
GermOnline	ENSG00000100625. 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	51804.
NextBio	55920.
SOURCE	Search...

Entry information

Entry name

SIX4_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 100 of the entry and version 2 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.