UniProtKB - P35712 (SOX6_HUMAN)
Transcription factor SOX-6
SOX6
Functioni
Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).
By similarity1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 621 – 689 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- transcription cis-regulatory region binding Source: UniProtKB
GO - Biological processi
- brain development Source: UniProtKB
- cartilage condensation Source: UniProtKB
- cartilage development Source: UniProtKB
- cell fate commitment Source: GO_Central
- cellular response to transforming growth factor beta stimulus Source: UniProtKB
- central nervous system development Source: GO_Central
- chondrocyte differentiation Source: UniProtKB
- muscle organ development Source: UniProtKB
- negative regulation of cardiac muscle cell differentiation Source: BHF-UCL
- positive regulation of cartilage development Source: UniProtKB
- positive regulation of chondrocyte differentiation Source: UniProtKB
- positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
- regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- spinal cord oligodendrocyte cell differentiation Source: UniProtKB
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P35712 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex |
SignaLinki | P35712 |
SIGNORi | P35712 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-6Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16421, SOX6 |
MIMi | 607257, gene |
neXtProti | NX_P35712 |
VEuPathDBi | HostDB:ENSG00000110693 |
Subcellular locationi
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: LIFEdb
Other locations
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Tolchin-Le Caignec syndrome (TOLCAS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084739 | 81 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 748 | |
Natural variantiVAR_084740 | 93 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 736 | |
Natural variantiVAR_084741 | 98 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 731 | |
Natural variantiVAR_084742 | 161 | W → C in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084743 | 240 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 589 | |
Natural variantiVAR_084744 | 625 | M → T in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084745 | 659 | W → R in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084746 | 766 | S → L in TOLCAS; unknown pathological significance. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 404 | K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417. 1 Publication | 1 | |
Mutagenesisi | 417 | K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404. 1 Publication | 1 |
Keywords - Diseasei
Autism spectrum disorder, Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 55553 |
MalaCardsi | SOX6 |
MIMi | 618971, phenotype |
OpenTargetsi | ENSG00000110693 |
PharmGKBi | PA38137 |
Miscellaneous databases
Pharosi | P35712, Tbio |
Genetic variation databases
BioMutai | SOX6 |
DMDMi | 215274178 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048729 | 1 – 828 | Transcription factor SOX-6Add BLAST | 828 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 119 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 399 | PhosphoserineCombined sources | 1 | |
Modified residuei | 401 | PhosphothreonineBy similarity | 1 | |
Cross-linki | 404 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) | ||
Cross-linki | 417 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) | ||
Modified residuei | 439 | PhosphoserineCombined sources | 1 | |
Modified residuei | 442 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P35712 |
jPOSTi | P35712 |
MassIVEi | P35712 |
MaxQBi | P35712 |
PaxDbi | P35712 |
PeptideAtlasi | P35712 |
PRIDEi | P35712 |
ProteomicsDBi | 55141 [P35712-1] 55142 [P35712-2] 55143 [P35712-3] 55144 [P35712-4] |
PTM databases
iPTMneti | P35712 |
PhosphoSitePlusi | P35712 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000110693, Expressed in intestine and 194 other tissues |
ExpressionAtlasi | P35712, baseline and differential |
Genevisiblei | P35712, HS |
Organism-specific databases
HPAi | ENSG00000110693, Tissue enhanced (bone) |
Interactioni
Subunit structurei
Homodimer (By similarity).
Interacts with DAZAP2 (By similarity). May interact with CENPK (By similarity).
By similarityBinary interactionsi
P35712
With | #Exp. | IntAct |
---|---|---|
SHOX [O15266] | 3 | EBI-3505706,EBI-3505698 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120714, 14 interactors |
ELMi | P35712 |
IntActi | P35712, 141 interactors |
MINTi | P35712 |
STRINGi | 9606.ENSP00000379644 |
Miscellaneous databases
RNActi | P35712, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 51 | DisorderedSequence analysisAdd BLAST | 51 | |
Regioni | 380 – 470 | DisorderedSequence analysisAdd BLAST | 91 | |
Regioni | 753 – 828 | DisorderedSequence analysisAdd BLAST | 76 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 184 – 262 | Sequence analysisAdd BLAST | 79 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 21 – 37 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 380 – 410 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 426 – 470 | Polar residuesSequence analysisAdd BLAST | 45 | |
Compositional biasi | 753 – 785 | Polar residuesSequence analysisAdd BLAST | 33 | |
Compositional biasi | 798 – 813 | Acidic residuesSequence analysisAdd BLAST | 16 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0528, Eukaryota |
GeneTreei | ENSGT00940000156433 |
HOGENOMi | CLU_018522_0_1_1 |
InParanoidi | P35712 |
OMAi | GDKAMNG |
OrthoDBi | 465521at2759 |
PhylomeDBi | P35712 |
TreeFami | TF320471 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR027153, SOX-6 |
PANTHERi | PTHR45789:SF1, PTHR45789:SF1, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSSKQATSPF ACAADGEDAM TQDLTSREKE EGSDQHVASH LPLHPIMHNK
60 70 80 90 100
PHSEELPTLV STIQQDADWD SVLSSQQRME SENNKLCSLY SFRNTSTSPH
110 120 130 140 150
KPDEGSRDRE IMTSVTFGTP ERRKGSLADV VDTLKQKKLE EMTRTEQEDS
160 170 180 190 200
SCMEKLLSKD WKEKMERLNT SELLGEIKGT PESLAEKERQ LSTMITQLIS
210 220 230 240 250
LREQLLAAHD EQKKLAASQI EKQRQQMDLA RQQQEQIARQ QQQLLQQQHK
260 270 280 290 300
INLLQQQIQV QGHMPPLMIP IFPHDQRTLA AAAAAQQGFL FPPGITYKPG
310 320 330 340 350
DNYPVQFIPS TMAAAAASGL SPLQLQKGHV SHPQINQRLK GLSDRFGRNL
360 370 380 390 400
DTFEHGGGHS YNHKQIEQLY AAQLASMQVS PGAKMPSTPQ PPNTAGTVSP
410 420 430 440 450
TGIKNEKRGT SPVTQVKDEA AAQPLNLSSR PKTAEPVKSP TSPTQNLFPA
460 470 480 490 500
SKTSPVNLPN KSSIPSPIGG SLGRGSSLDI LSSLNSPALF GDQDTVMKAI
510 520 530 540 550
QEARKMREQI QREQQQQQPH GVDGKLSSIN NMGLNSCRNE KERTRFENLG
560 570 580 590 600
PQLTGKSNED GKLGPGVIDL TRPEDAEGSK AMNGSAAKLQ QYYCWPTGGA
610 620 630 640 650
TVAEARVYRD ARGRASSEPH IKRPMNAFMV WAKDERRKIL QAFPDMHNSN
660 670 680 690 700
ISKILGSRWK SMSNQEKQPY YEEQARLSKI HLEKYPNYKY KPRPKRTCIV
710 720 730 740 750
DGKKLRIGEY KQLMRSRRQE MRQFFTVGQQ PQIPITTGTG VVYPGAITMA
760 770 780 790 800
TTTPSPQMTS DCSSTSASPE PSLPVIQSTY GMKTDGGSLA GNEMINGEDE
810 820
MEMYDDYEDD PKSDYSSENE APEAVSAN
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PQ67 | E9PQ67_HUMAN | Transcription factor SOX-6 | SOX6 | 79 | Annotation score: | ||
E9PN02 | E9PN02_HUMAN | Transcription factor SOX-6 | SOX6 | 139 | Annotation score: | ||
E9PQL4 | E9PQL4_HUMAN | Transcription factor SOX-6 | SOX6 | 159 | Annotation score: | ||
E9PQ78 | E9PQ78_HUMAN | Transcription factor SOX-6 | SOX6 | 159 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 330 | V → A in AAK26115 (PubMed:11255018).Curated | 1 | |
Sequence conflicti | 633 | K → R in CAA46614 (PubMed:1614875).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084739 | 81 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 748 | |
Natural variantiVAR_084740 | 93 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 736 | |
Natural variantiVAR_084741 | 98 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 731 | |
Natural variantiVAR_084742 | 161 | W → C in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084743 | 240 – 828 | Missing in TOLCAS. 1 PublicationAdd BLAST | 589 | |
Natural variantiVAR_084744 | 625 | M → T in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084745 | 659 | W → R in TOLCAS; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_084746 | 766 | S → L in TOLCAS; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039693 | 1 | M → MGRM in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_039694 | 327 – 367 | Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 41 | |
Alternative sequenceiVSP_039695 | 477 | S → SLGKWKSQHQEETYE in isoform 2 and isoform 4. 2 Publications | 1 | |
Alternative sequenceiVSP_039696 | 578 – 597 | Missing in isoform 3. 1 PublicationAdd BLAST | 20 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF309034 mRNA Translation: AAK26115.1 AF309476 , AF309471, AF309472, AF309473, AF309474, AF309475 Genomic DNA Translation: AAK26243.1 AF309476 , AF309471, AF309472, AF309473, AF309474, AF309475 Genomic DNA Translation: AAK26244.1 AL136780 mRNA Translation: CAB66714.1 AC009869 Genomic DNA No translation available. AC013595 Genomic DNA No translation available. AC027016 Genomic DNA No translation available. AC068405 Genomic DNA No translation available. AC103794 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68458.1 BC037866 mRNA No translation available. BC047064 mRNA Translation: AAH47064.2 X65663 mRNA Translation: CAA46614.1 |
CCDSi | CCDS53604.1 [P35712-4] CCDS53605.1 [P35712-4] CCDS7821.1 [P35712-3] |
RefSeqi | NP_001139283.1, NM_001145811.1 [P35712-4] NP_001139291.1, NM_001145819.1 [P35712-1] NP_059978.1, NM_017508.2 [P35712-4] NP_201583.2, NM_033326.3 [P35712-3] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF309034 mRNA Translation: AAK26115.1 AF309476 , AF309471, AF309472, AF309473, AF309474, AF309475 Genomic DNA Translation: AAK26243.1 AF309476 , AF309471, AF309472, AF309473, AF309474, AF309475 Genomic DNA Translation: AAK26244.1 AL136780 mRNA Translation: CAB66714.1 AC009869 Genomic DNA No translation available. AC013595 Genomic DNA No translation available. AC027016 Genomic DNA No translation available. AC068405 Genomic DNA No translation available. AC103794 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68458.1 BC037866 mRNA No translation available. BC047064 mRNA Translation: AAH47064.2 X65663 mRNA Translation: CAA46614.1 |
CCDSi | CCDS53604.1 [P35712-4] CCDS53605.1 [P35712-4] CCDS7821.1 [P35712-3] |
RefSeqi | NP_001139283.1, NM_001145811.1 [P35712-4] NP_001139291.1, NM_001145819.1 [P35712-1] NP_059978.1, NM_017508.2 [P35712-4] NP_201583.2, NM_033326.3 [P35712-3] |
3D structure databases
AlphaFoldDBi | P35712 |
SMRi | P35712 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120714, 14 interactors |
ELMi | P35712 |
IntActi | P35712, 141 interactors |
MINTi | P35712 |
STRINGi | 9606.ENSP00000379644 |
PTM databases
iPTMneti | P35712 |
PhosphoSitePlusi | P35712 |
Genetic variation databases
BioMutai | SOX6 |
DMDMi | 215274178 |
Proteomic databases
EPDi | P35712 |
jPOSTi | P35712 |
MassIVEi | P35712 |
MaxQBi | P35712 |
PaxDbi | P35712 |
PeptideAtlasi | P35712 |
PRIDEi | P35712 |
ProteomicsDBi | 55141 [P35712-1] 55142 [P35712-2] 55143 [P35712-3] 55144 [P35712-4] |
Protocols and materials databases
Antibodypediai | 1097, 287 antibodies from 32 providers |
DNASUi | 55553 |
Genome annotation databases
Organism-specific databases
CTDi | 55553 |
DisGeNETi | 55553 |
GeneCardsi | SOX6 |
HGNCi | HGNC:16421, SOX6 |
HPAi | ENSG00000110693, Tissue enhanced (bone) |
MalaCardsi | SOX6 |
MIMi | 607257, gene 618971, phenotype |
neXtProti | NX_P35712 |
OpenTargetsi | ENSG00000110693 |
PharmGKBi | PA38137 |
VEuPathDBi | HostDB:ENSG00000110693 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0528, Eukaryota |
GeneTreei | ENSGT00940000156433 |
HOGENOMi | CLU_018522_0_1_1 |
InParanoidi | P35712 |
OMAi | GDKAMNG |
OrthoDBi | 465521at2759 |
PhylomeDBi | P35712 |
TreeFami | TF320471 |
Enzyme and pathway databases
PathwayCommonsi | P35712 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex |
SignaLinki | P35712 |
SIGNORi | P35712 |
Miscellaneous databases
BioGRID-ORCSi | 55553, 18 hits in 1099 CRISPR screens |
ChiTaRSi | SOX6, human |
GeneWikii | SOX6 |
GenomeRNAii | 55553 |
Pharosi | P35712, Tbio |
PROi | PR:P35712 |
RNActi | P35712, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110693, Expressed in intestine and 194 other tissues |
ExpressionAtlasi | P35712, baseline and differential |
Genevisiblei | P35712, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR027153, SOX-6 |
PANTHERi | PTHR45789:SF1, PTHR45789:SF1, 1 hit |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX6_HUMAN | |
Accessioni | P35712Primary (citable) accession number: P35712 Secondary accession number(s): Q86VX7 Q9H0I8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | November 25, 2008 | |
Last modified: | May 25, 2022 | |
This is version 192 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot