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O00570

- SOX1_HUMAN

UniProt

O00570 - SOX1_HUMAN

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Protein

Transcription factor SOX-1

Gene

SOX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi51 – 11969HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. core promoter sequence-specific DNA binding Source: UniProtKB
  2. DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. chromatin organization Source: UniProtKB
  2. forebrain neuron development Source: Ensembl
  3. lens morphogenesis in camera-type eye Source: Ensembl
  4. neuron migration Source: Ensembl
  5. regulation of transcription, DNA-templated Source: UniProtKB
  6. transcription, DNA-templated Source: UniProtKB-KW
  7. ventral spinal cord interneuron specification Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-1
Gene namesi
Name:SOX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:11189. SOX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36026.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 391391Transcription factor SOX-1PRO_0000048712Add
BLAST

Proteomic databases

PaxDbiO00570.
PRIDEiO00570.

PTM databases

PhosphoSiteiO00570.

Expressioni

Tissue specificityi

Mainly expressed in the developing central nervous system.

Gene expression databases

BgeeiO00570.
CleanExiHS_SOX1.
GenevestigatoriO00570.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
STAT3P407632EBI-2935583,EBI-518675

Protein-protein interaction databases

IntActiO00570. 1 interaction.
STRINGi9606.ENSP00000330218.

Structurei

3D structure databases

ProteinModelPortaliO00570.
SMRiO00570. Positions 49-127.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi27 – 4317Poly-GlyAdd
BLAST
Compositional biasi145 – 1506Poly-Gly
Compositional biasi197 – 2048Poly-Ala
Compositional biasi280 – 2889Poly-Ala
Compositional biasi296 – 30611Poly-AlaAdd
BLAST
Compositional biasi357 – 3648Poly-Ala

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG321816.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000231647.
HOVERGENiHBG105663.
InParanoidiO00570.
KOiK09267.
OMAiHSRGPCP.
OrthoDBiEOG7TMZVP.
PhylomeDBiO00570.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR022097. TF_SOX.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O00570-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MYSMMMETDL HSPGGAQAPT NLSGPAGAGG GGGGGGGGGG GGGAKANQDR
60 70 80 90 100
VKRPMNAFMV WSRGQRRKMA QENPKMHNSE ISKRLGAEWK VMSEAEKRPF
110 120 130 140 150
IDEAKRLRAL HMKEHPDYKY RPRRKTKTLL KKDKYSLAGG LLAAGAGGGG
160 170 180 190 200
AAVAMGVGVG VGAAAVGQRL ESPGGAAGGG YAHVNGWANG AYPGSVAAAA
210 220 230 240 250
AAAAMMQEAQ LAYGQHPGAG GAHPHAHPAH PHPHHPHAHP HNPQPMHRYD
260 270 280 290 300
MGALQYSPIS NSQGYMSASP SGYGGLPYGA AAAAAAAAGG AHQNSAVAAA
310 320 330 340 350
AAAAAASSGA LGALGSLVKS EPSGSPPAPA HSRAPCPGDL REMISMYLPA
360 370 380 390
GEGGDPAAAA AAAAQSRLHS LPQHYQGAGA GVNGTVPLTH I
Length:391
Mass (Da):39,023
Last modified:September 23, 2008 - v2
Checksum:iDD519BA97CF5E052
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti165 – 1651A → P in CAA73847. (PubMed:9337405)Curated
Sequence conflicti180 – 1801G → A in CAA73847. (PubMed:9337405)Curated
Sequence conflicti226 – 2272AH → RT in CAA73847. (PubMed:9337405)Curated
Sequence conflicti287 – 2904Missing in CAA73847. (PubMed:9337405)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13436 Genomic DNA. Translation: CAA73847.1.
AL138691 Genomic DNA. Translation: CAH72340.1.
CH471085 Genomic DNA. Translation: EAX09158.1.
CCDSiCCDS9523.1.
RefSeqiNP_005977.2. NM_005986.2.
UniGeneiHs.202526.

Genome annotation databases

EnsembliENST00000330949; ENSP00000330218; ENSG00000182968.
GeneIDi6656.
KEGGihsa:6656.
UCSCiuc001vsb.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13436 Genomic DNA. Translation: CAA73847.1 .
AL138691 Genomic DNA. Translation: CAH72340.1 .
CH471085 Genomic DNA. Translation: EAX09158.1 .
CCDSi CCDS9523.1.
RefSeqi NP_005977.2. NM_005986.2.
UniGenei Hs.202526.

3D structure databases

ProteinModelPortali O00570.
SMRi O00570. Positions 49-127.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi O00570. 1 interaction.
STRINGi 9606.ENSP00000330218.

PTM databases

PhosphoSitei O00570.

Proteomic databases

PaxDbi O00570.
PRIDEi O00570.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330949 ; ENSP00000330218 ; ENSG00000182968 .
GeneIDi 6656.
KEGGi hsa:6656.
UCSCi uc001vsb.1. human.

Organism-specific databases

CTDi 6656.
GeneCardsi GC13P112721.
HGNCi HGNC:11189. SOX1.
MIMi 602148. gene.
neXtProti NX_O00570.
PharmGKBi PA36026.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321816.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000231647.
HOVERGENi HBG105663.
InParanoidi O00570.
KOi K09267.
OMAi HSRGPCP.
OrthoDBi EOG7TMZVP.
PhylomeDBi O00570.
TreeFami TF351735.

Miscellaneous databases

GenomeRNAii 6656.
NextBioi 25947.
PROi O00570.
SOURCEi Search...

Gene expression databases

Bgeei O00570.
CleanExi HS_SOX1.
Genevestigatori O00570.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR022097. TF_SOX.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiSOX1_HUMAN
AccessioniPrimary (citable) accession number: O00570
Secondary accession number(s): Q5W0Q1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 23, 2008
Last modified: October 29, 2014
This is version 110 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3