SOX1_HUMAN
ID SOX1_HUMAN Reviewed; 391 AA.
AC O00570; Q5W0Q1;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Transcription factor SOX-1;
GN Name=SOX1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9337405; DOI=10.1007/s003359900597;
RA Malas S., Duthie S.M., Mohri F., Lovell-Badge R., Episkopou V.;
RT "Cloning and mapping of the human SOX1: a highly conserved gene expressed
RT in the developing brain.";
RL Mamm. Genome 8:866-868(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Transcriptional activator. May function as a switch in
CC neuronal development. Keeps neural cells undifferentiated by
CC counteracting the activity of proneural proteins and suppresses
CC neuronal differentiation (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC O00570; P40763: STAT3; NbExp=2; IntAct=EBI-2935583, EBI-518675;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Mainly expressed in the developing central nervous
CC system.
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors.
CC {ECO:0000250|UniProtKB:P41225}.
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DR EMBL; Y13436; CAA73847.1; -; Genomic_DNA.
DR EMBL; AL138691; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471085; EAX09158.1; -; Genomic_DNA.
DR CCDS; CCDS9523.1; -.
DR RefSeq; NP_005977.2; NM_005986.2.
DR AlphaFoldDB; O00570; -.
DR SMR; O00570; -.
DR BioGRID; 112539; 5.
DR IntAct; O00570; 4.
DR MINT; O00570; -.
DR STRING; 9606.ENSP00000330218; -.
DR iPTMnet; O00570; -.
DR PhosphoSitePlus; O00570; -.
DR BioMuta; SOX1; -.
DR jPOST; O00570; -.
DR MassIVE; O00570; -.
DR MaxQB; O00570; -.
DR PaxDb; O00570; -.
DR PeptideAtlas; O00570; -.
DR PRIDE; O00570; -.
DR Antibodypedia; 25675; 315 antibodies from 36 providers.
DR DNASU; 6656; -.
DR Ensembl; ENST00000330949.3; ENSP00000330218.1; ENSG00000182968.5.
DR GeneID; 6656; -.
DR KEGG; hsa:6656; -.
DR MANE-Select; ENST00000330949.3; ENSP00000330218.1; NM_005986.3; NP_005977.2.
DR UCSC; uc001vsb.2; human.
DR CTD; 6656; -.
DR DisGeNET; 6656; -.
DR GeneCards; SOX1; -.
DR HGNC; HGNC:11189; SOX1.
DR HPA; ENSG00000182968; Tissue enriched (brain).
DR MIM; 602148; gene.
DR neXtProt; NX_O00570; -.
DR OpenTargets; ENSG00000182968; -.
DR PharmGKB; PA36026; -.
DR VEuPathDB; HostDB:ENSG00000182968; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000162479; -.
DR HOGENOM; CLU_021123_0_0_1; -.
DR InParanoid; O00570; -.
DR OMA; GPKANQD; -.
DR OrthoDB; 1161594at2759; -.
DR PhylomeDB; O00570; -.
DR TreeFam; TF351735; -.
DR PathwayCommons; O00570; -.
DR SignaLink; O00570; -.
DR BioGRID-ORCS; 6656; 10 hits in 1090 CRISPR screens.
DR GenomeRNAi; 6656; -.
DR Pharos; O00570; Tbio.
DR PRO; PR:O00570; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O00570; protein.
DR Bgee; ENSG00000182968; Expressed in ventricular zone and 41 other tissues.
DR Genevisible; O00570; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEA:Ensembl.
DR GO; GO:0006325; P:chromatin organization; NAS:UniProtKB.
DR GO; GO:0021884; P:forebrain neuron development; IEA:Ensembl.
DR GO; GO:1904936; P:interneuron migration; ISS:UniProtKB.
DR GO; GO:0002089; P:lens morphogenesis in camera-type eye; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0048713; P:regulation of oligodendrocyte differentiation; ISS:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0021521; P:ventral spinal cord interneuron specification; IEA:Ensembl.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR031268; SOX-1.
DR InterPro; IPR022097; SOX_fam.
DR PANTHER; PTHR10270:SF40; PTHR10270:SF40; 1.
DR Pfam; PF00505; HMG_box; 1.
DR Pfam; PF12336; SOXp; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW Activator; DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..391
FT /note="Transcription factor SOX-1"
FT /id="PRO_0000048712"
FT DNA_BIND 51..119
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..249
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 342..350
FT /note="9aaTAD"
FT /evidence="ECO:0000250|UniProtKB:P41225"
FT COMPBIAS 227..242
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 165
FT /note="A -> P (in Ref. 1; CAA73847)"
FT /evidence="ECO:0000305"
FT CONFLICT 180
FT /note="G -> A (in Ref. 1; CAA73847)"
FT /evidence="ECO:0000305"
FT CONFLICT 226..227
FT /note="AH -> RT (in Ref. 1; CAA73847)"
FT /evidence="ECO:0000305"
FT CONFLICT 287..290
FT /note="Missing (in Ref. 1; CAA73847)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 391 AA; 39023 MW; DD519BA97CF5E052 CRC64;
MYSMMMETDL HSPGGAQAPT NLSGPAGAGG GGGGGGGGGG GGGAKANQDR VKRPMNAFMV
WSRGQRRKMA QENPKMHNSE ISKRLGAEWK VMSEAEKRPF IDEAKRLRAL HMKEHPDYKY
RPRRKTKTLL KKDKYSLAGG LLAAGAGGGG AAVAMGVGVG VGAAAVGQRL ESPGGAAGGG
YAHVNGWANG AYPGSVAAAA AAAAMMQEAQ LAYGQHPGAG GAHPHAHPAH PHPHHPHAHP
HNPQPMHRYD MGALQYSPIS NSQGYMSASP SGYGGLPYGA AAAAAAAAGG AHQNSAVAAA
AAAAAASSGA LGALGSLVKS EPSGSPPAPA HSRAPCPGDL REMISMYLPA GEGGDPAAAA
AAAAQSRLHS LPQHYQGAGA GVNGTVPLTH I
