O00570 (SOX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor SOX-1

Gene names

Name:

SOX1

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	391 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation By similarity.
Subcellular location	Nucleus Probable.
Tissue specificity	Mainly expressed in the developing central nervous system.
Sequence similarities	Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chromatin organization Non-traceable author statement Ref.1. Source: UniProtKB forebrain neuron development Inferred from electronic annotation. Source: Compara lens morphogenesis in camera-type eye Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW ventral spinal cord interneuron specification Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	core promoter sequence-specific DNA binding Inferred from direct assay PubMed 20049565. Source: UniProtKB sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
STAT3	P40763	2	EBI-2935583,EBI-518675

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 391	391	Transcription factor SOX-1		PRO_0000048712
Regions
	DNA binding	51 – 119	69	HMG box
	Compositional bias	27 – 43	17	Poly-Gly
	Compositional bias	145 – 150	6	Poly-Gly
	Compositional bias	197 – 204	8	Poly-Ala
	Compositional bias	280 – 288	9	Poly-Ala
	Compositional bias	296 – 306	11	Poly-Ala
	Compositional bias	357 – 364	8	Poly-Ala
Experimental info
	Sequence conflict	165	1	A → P in CAA73847. Ref.1
	Sequence conflict	180	1	G → A in CAA73847. Ref.1
	Sequence conflict	226 – 227	2	AH → RT in CAA73847. Ref.1
	Sequence conflict	287 – 290	4	Missing in CAA73847. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O00570 [UniParc]. Last modified September 23, 2008. Version 2. Checksum: DD519BA97CF5E052	FASTA	391	39,023
	10 20 30 40 50 60 MYSMMMETDL HSPGGAQAPT NLSGPAGAGG GGGGGGGGGG GGGAKANQDR VKRPMNAFMV 70 80 90 100 110 120 WSRGQRRKMA QENPKMHNSE ISKRLGAEWK VMSEAEKRPF IDEAKRLRAL HMKEHPDYKY 130 140 150 160 170 180 RPRRKTKTLL KKDKYSLAGG LLAAGAGGGG AAVAMGVGVG VGAAAVGQRL ESPGGAAGGG 190 200 210 220 230 240 YAHVNGWANG AYPGSVAAAA AAAAMMQEAQ LAYGQHPGAG GAHPHAHPAH PHPHHPHAHP 250 260 270 280 290 300 HNPQPMHRYD MGALQYSPIS NSQGYMSASP SGYGGLPYGA AAAAAAAAGG AHQNSAVAAA 310 320 330 340 350 360 AAAAAASSGA LGALGSLVKS EPSGSPPAPA HSRAPCPGDL REMISMYLPA GEGGDPAAAA 370 380 390 AAAAQSRLHS LPQHYQGAGA GVNGTVPLTH I

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and mapping of the human SOX1: a highly conserved gene expressed in the developing brain." Malas S., Duthie S.M., Mohri F., Lovell-Badge R., Episkopou V. Mamm. Genome 8:866-868(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y13436 Genomic DNA. Translation: CAA73847.1. AL138691 Genomic DNA. Translation: CAH72340.1. CH471085 Genomic DNA. Translation: EAX09158.1.
IPI	IPI00012162.
RefSeq	NP_005977.2. NM_005986.2.
UniGene	Hs.202526.
3D structure databases
ProteinModelPortal	O00570.
SMR	O00570. Positions 49-127.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00570. 1 interaction.
STRING	9606.ENSP00000330218.
PTM databases
PhosphoSite	O00570.
Proteomic databases
PaxDb	O00570.
PRIDE	O00570.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000330949; ENSP00000330218; ENSG00000182968.
GeneID	6656.
KEGG	hsa:6656.
UCSC	uc001vsb.1. human.
Organism-specific databases
CTD	6656.
GeneCards	GC13P112721.
HGNC	HGNC:11189. SOX1.
MIM	602148. gene.
neXtProt	NX_O00570.
PharmGKB	PA36026.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG321816.
HOGENOM	HOG000231647.
HOVERGEN	HBG105663.
InParanoid	O00570.
KO	K09267.
OMA	MHRYDMT.
OrthoDB	EOG4DFPQ1.
PhylomeDB	O00570.
Gene expression databases
Bgee	O00570.
CleanEx	HS_SOX1.
Genevestigator	O00570.
GermOnline	ENSG00000182968. Homo sapiens.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. IPR022097. TF_SOX. [Graphical view]
Pfam	PF00505. HMG_box. 1 hit. PF12336. SOXp. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6656.
NextBio	25947.
SOURCE	Search...

Entry information

Entry name

SOX1_HUMAN

Accession

Primary (citable) accession number: O00570
Secondary accession number(s): Q5W0Q1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	September 23, 2008
Last modified:	May 1, 2013
This is version 99 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.