SOX11_HUMAN
ID SOX11_HUMAN Reviewed; 441 AA.
AC P35716; Q4ZFV8;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1996, sequence version 2.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Transcription factor SOX-11;
GN Name=SOX11;
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], AND DEVELOPMENTAL STAGE.
RC TISSUE=Fetal brain;
RX PubMed=8666406; DOI=10.1006/geno.1995.9970;
RA Jay P., Goze C., Marsollier C., Taviaux S., Hardelin J.-P., Koopman P.,
RA Berta P.;
RT "The human SOX11 gene: cloning, chromosomal assignment and tissue
RT expression.";
RL Genomics 29:541-545(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Neuroepithelium;
RX PubMed=10574465; DOI=10.1093/dnares/6.5.357;
RA Azuma T., Ao S., Saito Y., Yano K., Seki N., Wakao H., Masuho Y.,
RA Muramatsu M.;
RT "Human SOX11, an upregulated gene during the neural differentiation, has a
RT long 3' untranslated region.";
RL DNA Res. 6:357-360(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 57-115.
RX PubMed=8332506; DOI=10.1093/nar/21.12.2943;
RA Goze C., Poulat F., Berta P.;
RT "Partial cloning of SOX-11 and SOX-12, two new human SOX genes.";
RL Nucleic Acids Res. 21:2943-2943(1993).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY,
RP VARIANTS CSS9 PRO-60 AND CYS-116, AND CHARACTERIZATION OF VARIANTS CSS9
RP PRO-60 AND CYS-116.
RX PubMed=24886874; DOI=10.1038/ncomms5011;
RA Tsurusaki Y., Koshimizu E., Ohashi H., Phadke S., Kou I., Shiina M.,
RA Suzuki T., Okamoto N., Imamura S., Yamashita M., Watanabe S., Yoshiura K.,
RA Kodera H., Miyatake S., Nakashima M., Saitsu H., Ogata K., Ikegawa S.,
RA Miyake N., Matsumoto N.;
RT "De novo SOX11 mutations cause Coffin-Siris syndrome.";
RL Nat. Commun. 5:4011-4011(2014).
CC -!- FUNCTION: Transcription factor that acts as a transcriptional activator
CC (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6
CC to gene promoters, which enhances transcriptional activation (By
CC similarity). Acts as a transcriptional activator of TEAD2 by binding to
CC its gene promoter and first intron (By similarity). Plays a redundant
CC role with SOX4 and SOX12 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:Q7M6Y2,
CC ECO:0000269|PubMed:24886874}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267,
CC ECO:0000269|PubMed:24886874}.
CC -!- TISSUE SPECIFICITY: Expressed primarily in the brain and heart, with
CC low expression in the kidney, pancreas and muscle.
CC {ECO:0000269|PubMed:24886874}.
CC -!- DEVELOPMENTAL STAGE: Expressed primarily in the fetal brain, with low
CC expression in the lung, and kidney at 6-7 weeks dpc (PubMed:8666406,
CC PubMed:24886874). Weak expression in the fetal heart and muscle
CC (PubMed:24886874). {ECO:0000269|PubMed:24886874,
CC ECO:0000269|PubMed:8666406}.
CC -!- DISEASE: Coffin-Siris syndrome 9 (CSS9) [MIM:615866]: A form of Coffin-
CC Siris syndrome, a congenital multiple malformation syndrome with broad
CC phenotypic and genetic variability. Cardinal features are intellectual
CC disability, coarse facial features, hypertrichosis, and hypoplastic or
CC absent fifth digit nails or phalanges. Additional features include
CC malformations of the cardiac, gastrointestinal, genitourinary, and/or
CC central nervous systems. Sucking/feeding difficulties, poor growth,
CC ophthalmologic abnormalities, hearing impairment, and spinal anomalies
CC are common findings. CSS9 is an autosomal dominant form characterized
CC by dysmorphic facial features, microcephaly, growth deficiency,
CC hypoplastic fifth toenails, and mild intellectual disability.
CC {ECO:0000269|PubMed:24886874}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/SOX11ID42357ch2p25.html";
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DR EMBL; U23752; AAB08518.1; -; mRNA.
DR EMBL; AB028641; BAA88122.1; -; mRNA.
DR EMBL; AC108025; AAX88930.1; -; Genomic_DNA.
DR EMBL; X73038; CAA51519.1; -; Genomic_DNA.
DR CCDS; CCDS1654.1; -.
DR PIR; G01758; G01758.
DR PIR; S34118; S34118.
DR RefSeq; NP_003099.1; NM_003108.3.
DR PDB; 6T78; X-ray; 2.50 A; A/B=33-138.
DR PDB; 6T7A; EM; 3.70 A; K=33-138.
DR PDB; 6T7C; EM; 4.00 A; K/L=33-138.
DR PDB; 6T7D; EM; 4.40 A; K=33-138.
DR PDBsum; 6T78; -.
DR PDBsum; 6T7A; -.
DR PDBsum; 6T7C; -.
DR PDBsum; 6T7D; -.
DR AlphaFoldDB; P35716; -.
DR SMR; P35716; -.
DR BioGRID; 112547; 4.
DR IntAct; P35716; 2.
DR STRING; 9606.ENSP00000322568; -.
DR iPTMnet; P35716; -.
DR PhosphoSitePlus; P35716; -.
DR BioMuta; SOX11; -.
DR DMDM; 1351142; -.
DR EPD; P35716; -.
DR MassIVE; P35716; -.
DR MaxQB; P35716; -.
DR PaxDb; P35716; -.
DR PeptideAtlas; P35716; -.
DR PRIDE; P35716; -.
DR ProteomicsDB; 55146; -.
DR Antibodypedia; 625; 354 antibodies from 40 providers.
DR DNASU; 6664; -.
DR Ensembl; ENST00000322002.5; ENSP00000322568.3; ENSG00000176887.7.
DR GeneID; 6664; -.
DR KEGG; hsa:6664; -.
DR MANE-Select; ENST00000322002.5; ENSP00000322568.3; NM_003108.4; NP_003099.1.
DR UCSC; uc002qyj.3; human.
DR CTD; 6664; -.
DR DisGeNET; 6664; -.
DR GeneCards; SOX11; -.
DR GeneReviews; SOX11; -.
DR HGNC; HGNC:11191; SOX11.
DR HPA; ENSG00000176887; Tissue enriched (brain).
DR MalaCards; SOX11; -.
DR MIM; 600898; gene.
DR MIM; 615866; phenotype.
DR neXtProt; NX_P35716; -.
DR OpenTargets; ENSG00000176887; -.
DR Orphanet; 1465; Coffin-Siris syndrome.
DR PharmGKB; PA36028; -.
DR VEuPathDB; HostDB:ENSG00000176887; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000161652; -.
DR HOGENOM; CLU_043342_0_0_1; -.
DR InParanoid; P35716; -.
DR OMA; TAHHGDY; -.
DR OrthoDB; 1186233at2759; -.
DR PhylomeDB; P35716; -.
DR TreeFam; TF351735; -.
DR PathwayCommons; P35716; -.
DR SignaLink; P35716; -.
DR SIGNOR; P35716; -.
DR BioGRID-ORCS; 6664; 19 hits in 1092 CRISPR screens.
DR ChiTaRS; SOX11; human.
DR GeneWiki; SOX11; -.
DR GenomeRNAi; 6664; -.
DR Pharos; P35716; Tbio.
DR PRO; PR:P35716; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P35716; protein.
DR Bgee; ENSG00000176887; Expressed in ganglionic eminence and 74 other tissues.
DR Genevisible; P35716; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; 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; IDA:GO_Central.
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:0003211; P:cardiac ventricle formation; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0061386; P:closure of optic fissure; ISS:UniProtKB.
DR GO; GO:0061303; P:cornea development in camera-type eye; ISS:UniProtKB.
DR GO; GO:0048557; P:embryonic digestive tract morphogenesis; ISS:UniProtKB.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; ISS:UniProtKB.
DR GO; GO:0061029; P:eyelid development in camera-type eye; ISS:UniProtKB.
DR GO; GO:0021782; P:glial cell development; ISS:UniProtKB.
DR GO; GO:0014009; P:glial cell proliferation; ISS:UniProtKB.
DR GO; GO:0060022; P:hard palate development; ISS:UniProtKB.
DR GO; GO:0001822; P:kidney development; IEA:Ensembl.
DR GO; GO:0002089; P:lens morphogenesis in camera-type eye; ISS:UniProtKB.
DR GO; GO:0060174; P:limb bud formation; ISS:UniProtKB.
DR GO; GO:0060425; P:lung morphogenesis; ISS:UniProtKB.
DR GO; GO:0060548; P:negative regulation of cell death; ISS:UniProtKB.
DR GO; GO:0010629; P:negative regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0060253; P:negative regulation of glial cell proliferation; IMP:UniProtKB.
DR GO; GO:0050672; P:negative regulation of lymphocyte proliferation; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; ISS:UniProtKB.
DR GO; GO:0014032; P:neural crest cell development; ISS:UniProtKB.
DR GO; GO:0001841; P:neural tube formation; ISS:UniProtKB.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:0030182; P:neuron differentiation; IEP:UniProtKB.
DR GO; GO:0003357; P:noradrenergic neuron differentiation; ISS:UniProtKB.
DR GO; GO:0014003; P:oligodendrocyte development; IEA:Ensembl.
DR GO; GO:0003151; P:outflow tract morphogenesis; ISS:UniProtKB.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; ISS:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; ISS:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0035332; P:positive regulation of hippo signaling; ISS:UniProtKB.
DR GO; GO:0046887; P:positive regulation of hormone secretion; ISS:UniProtKB.
DR GO; GO:2001111; P:positive regulation of lens epithelial cell proliferation; ISS:UniProtKB.
DR GO; GO:0050769; P:positive regulation of neurogenesis; ISS:UniProtKB.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IMP:UniProtKB.
DR GO; GO:0045778; P:positive regulation of ossification; IMP:UniProtKB.
DR GO; GO:0045669; P:positive regulation of osteoblast differentiation; IMP:UniProtKB.
DR GO; GO:2000648; P:positive regulation of stem cell proliferation; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0017015; P:regulation of transforming growth factor beta receptor signaling pathway; IEP:UniProtKB.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; ISS:UniProtKB.
DR GO; GO:0060023; P:soft palate development; ISS:UniProtKB.
DR GO; GO:0061053; P:somite development; ISS:UniProtKB.
DR GO; GO:0021510; P:spinal cord development; ISS:UniProtKB.
DR GO; GO:0048485; P:sympathetic nervous system development; ISS:UniProtKB.
DR GO; GO:0060412; P:ventricular septum morphogenesis; ISS:UniProtKB.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR029551; SOX-11.
DR InterPro; IPR017386; SOX-12/11/4.
DR PANTHER; PTHR10270:SF113; PTHR10270:SF113; 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 1: Evidence at protein level;
KW 3D-structure; Activator; Developmental protein; Differentiation;
KW Disease variant; DNA-binding; Intellectual disability; Neurogenesis;
KW Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..441
FT /note="Transcription factor SOX-11"
FT /id="PRO_0000048750"
FT DNA_BIND 49..117
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 116..216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 240..292
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 319..359
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 409..441
FT /note="Required for transcriptional activation activity and
FT synergistic coactivation of transcriptional activity with
FT POU3F2"
FT /evidence="ECO:0000250|UniProtKB:Q7M6Y2"
FT COMPBIAS 331..356
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 206
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 60
FT /note="S -> P (in CSS9; decreases transcriptional activity;
FT dbSNP:rs587777480)"
FT /evidence="ECO:0000269|PubMed:24886874"
FT /id="VAR_071461"
FT VARIANT 116
FT /note="Y -> C (in CSS9; decreases transcriptional activity;
FT dbSNP:rs587777479)"
FT /evidence="ECO:0000269|PubMed:24886874"
FT /id="VAR_071462"
FT HELIX 55..70
FT /evidence="ECO:0007829|PDB:6T78"
FT HELIX 76..89
FT /evidence="ECO:0007829|PDB:6T78"
FT HELIX 93..95
FT /evidence="ECO:0007829|PDB:6T78"
FT HELIX 96..112
FT /evidence="ECO:0007829|PDB:6T78"
SQ SEQUENCE 441 AA; 46679 MW; 50567A654F503C63 CRC64;
MVQQAESLEA ESNLPREALD TEEGEFMACS PVALDESDPD WCKTASGHIK RPMNAFMVWS
KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR EAERLRLKHM ADYPDYKYRP
RKKPKMDPSA KPSASQSPEK SAAGGGGGSA GGGAGGAKTS KGSSKKCGKL KAPAAAGAKA
GAGKAAQSGD YGGAGDDYVL GSLRVSGSGG GGAGKTVKCV FLDEDDDDDD DDDELQLQIK
QEPDEEDEEP PHQQLLQPPG QQPSQLLRRY NVAKVPASPT LSSSAESPEG ASLYDEVRAG
ATSGAGGGSR LYYSFKNITK QHPPPLAQPA LSPASSRSVS TSSSSSSGSS SGSSGEDADD
LMFDLSLNFS QSAHSASEQQ LGGGAAAGNL SLSLVDKDLD SFSEGSLGSH FEFPDYCTPE
LSEMIAGDWL EANFSDLVFT Y
