SOX12_HUMAN
ID SOX12_HUMAN Reviewed; 315 AA.
AC O15370; Q5D038; Q9NUD4;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Transcription factor SOX-12;
DE AltName: Full=Protein SOX-22;
GN Name=SOX12; Synonyms=SOX22;
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 [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Fetal brain;
RX PubMed=9215677; DOI=10.1093/hmg/6.7.1069;
RA Jay P., Sahly I., Goze C., Taviaux S., Poulat F., Couly G., Abitbol M.,
RA Berta P.;
RT "SOX22 is a new member of the SOX gene family, mainly expressed in human
RT nervous tissue.";
RL Hum. Mol. Genet. 6:1069-1077(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Transcription factor that binds to DNA at the consensus
CC sequence 5'-ACCAAAG-3' (By similarity). Acts as a transcriptional
CC activator (By similarity). Binds cooperatively with POU3F2/BRN2 or
CC POU3F1/OCT6 to gene promoters, which enhances transcriptional
CC activation (By similarity). Involved in the differentiation of naive
CC CD4-positive T-cells into peripherally induced regulatory T (pT reg)
CC cells under inflammatory conditions (By similarity). Binds to the
CC promoter region of the FOXP3 gene and promotes its transcription, and
CC might thereby contribute to pT reg cell differentiation in the spleen
CC and lymph nodes during inflammation (By similarity). Plays a redundant
CC role with SOX4 and SOX11 in cell survival of developing tissues such as
CC the neural tube, branchial arches and somites, thereby contributing to
CC organogenesis (By similarity). {ECO:0000250|UniProtKB:Q04890}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267,
CC ECO:0000269|PubMed:9215677}.
CC -!- TISSUE SPECIFICITY: Expressed most abundantly in the CNS
CC (PubMed:9215677). Expressed in the heart, pancreas, thymus, testis and
CC ovary (PubMed:9215677). Weakly expressed in brain, placenta, lung,
CC liver, skeletal muscle, kidney, spleen, prostate, small intestine,
CC colon, and peripheral blood lymphocytes (PubMed:9215677).
CC {ECO:0000269|PubMed:9215677}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the fetal brain, lung, liver, and
CC kidney. {ECO:0000269|PubMed:9215677}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB69627.1; Type=Frameshift; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; U35612; AAB69627.1; ALT_FRAME; mRNA.
DR EMBL; AL034548; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC067361; AAH67361.1; -; mRNA.
DR CCDS; CCDS12995.1; -.
DR RefSeq; NP_008874.2; NM_006943.3.
DR AlphaFoldDB; O15370; -.
DR SMR; O15370; -.
DR BioGRID; 112549; 9.
DR IntAct; O15370; 3.
DR STRING; 9606.ENSP00000347646; -.
DR iPTMnet; O15370; -.
DR PhosphoSitePlus; O15370; -.
DR BioMuta; SOX12; -.
DR EPD; O15370; -.
DR MassIVE; O15370; -.
DR MaxQB; O15370; -.
DR PaxDb; O15370; -.
DR PeptideAtlas; O15370; -.
DR PRIDE; O15370; -.
DR ProteomicsDB; 48613; -.
DR Antibodypedia; 6130; 237 antibodies from 32 providers.
DR DNASU; 6666; -.
DR Ensembl; ENST00000342665.5; ENSP00000347646.1; ENSG00000177732.9.
DR GeneID; 6666; -.
DR KEGG; hsa:6666; -.
DR MANE-Select; ENST00000342665.5; ENSP00000347646.1; NM_006943.4; NP_008874.2.
DR UCSC; uc002wdh.5; human.
DR CTD; 6666; -.
DR DisGeNET; 6666; -.
DR GeneCards; SOX12; -.
DR HGNC; HGNC:11198; SOX12.
DR HPA; ENSG00000177732; Low tissue specificity.
DR MIM; 601947; gene.
DR neXtProt; NX_O15370; -.
DR OpenTargets; ENSG00000177732; -.
DR PharmGKB; PA36035; -.
DR VEuPathDB; HostDB:ENSG00000177732; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000163140; -.
DR HOGENOM; CLU_043342_0_0_1; -.
DR InParanoid; O15370; -.
DR OMA; GEPAWCK; -.
DR OrthoDB; 1186233at2759; -.
DR PhylomeDB; O15370; -.
DR TreeFam; TF351735; -.
DR PathwayCommons; O15370; -.
DR SignaLink; O15370; -.
DR BioGRID-ORCS; 6666; 31 hits in 1108 CRISPR screens.
DR ChiTaRS; SOX12; human.
DR GeneWiki; SOX12; -.
DR GenomeRNAi; 6666; -.
DR Pharos; O15370; Tbio.
DR PRO; PR:O15370; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; O15370; protein.
DR Bgee; ENSG00000177732; Expressed in cortical plate and 144 other tissues.
DR Genevisible; O15370; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0032993; C:protein-DNA complex; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS: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; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; ISS: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:0045165; P:cell fate commitment; IEA:InterPro.
DR GO; GO:0045591; P:positive regulation of regulatory T cell differentiation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0021510; P:spinal cord development; ISS:UniProtKB.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR031267; SOX-12.
DR InterPro; IPR017386; SOX-12/11/4.
DR PANTHER; PTHR10270:SF221; PTHR10270:SF221; 1.
DR Pfam; PF00505; HMG_box; 1.
DR PIRSF; PIRSF038098; SOX-12/11/4a; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 2: Evidence at transcript level;
KW Activator; DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..315
FT /note="Transcription factor SOX-12"
FT /id="PRO_0000048754"
FT DNA_BIND 40..108
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 100..288
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 283..315
FT /note="Required for transcriptional activation activity and
FT synergistic coactivation of transcriptional activity with
FT POU3F2"
FT /evidence="ECO:0000250|UniProtKB:Q04890"
FT COMPBIAS 161..175
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 222..246
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 315 AA; 34122 MW; A5BF539AC505942D CRC64;
MVQQRGARAK RDGGPPPPGP GPAEEGAREP GWCKTPSGHI KRPMNAFMVW SQHERRKIMD
QWPDMHNAEI SKRLGRRWQL LQDSEKIPFV REAERLRLKH MADYPDYKYR PRKKSKGAPA
KARPRPPGGS GGGSRLKPGP QLPGRGGRRA AGGPLGGGAA APEDDDEDDD EELLEVRLVE
TPGRELWRMV PAGRAARGQA ERAQGPSGEG AAAAAAASPT PSEDEEPEEE EEEAAAAEEG
EEETVASGEE SLGFLSRLPP GPAGLDCSAL DRDPDLQPPS GTSHFEFPDY CTPEVTEMIA
GDWRPSSIAD LVFTY
