Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P35712

- SOX6_HUMAN

UniProt

P35712 - SOX6_HUMAN

Protein

Transcription factor SOX-6

Gene

SOX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi621 – 68969HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding Source: Ensembl
    4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    5. transcription regulatory region DNA binding Source: Ensembl

    GO - Biological processi

    1. astrocyte differentiation Source: Ensembl
    2. cardiocyte differentiation Source: Ensembl
    3. cartilage development Source: Ensembl
    4. cell morphogenesis Source: Ensembl
    5. cellular response to transforming growth factor beta stimulus Source: UniProtKB
    6. erythrocyte development Source: Ensembl
    7. gene silencing Source: Ensembl
    8. in utero embryonic development Source: Ensembl
    9. muscle cell differentiation Source: Ensembl
    10. muscle organ development Source: UniProtKB
    11. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    12. oligodendrocyte cell fate specification Source: Ensembl
    13. positive regulation of cartilage development Source: UniProtKB
    14. positive regulation of chondrocyte differentiation Source: UniProtKB
    15. positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
    16. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    17. post-embryonic development Source: Ensembl
    18. regulation of transcription, DNA-templated Source: UniProtKB
    19. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-6
    Gene namesi
    Name:SOX6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:16421. SOX6.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi404 – 4041K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417. 1 Publication
    Mutagenesisi417 – 4171K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404. 1 Publication

    Organism-specific databases

    PharmGKBiPA38137.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 828828Transcription factor SOX-6PRO_0000048729Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki404 – 404Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Cross-linki417 – 417Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

    Post-translational modificationi

    Sumoylation inhibits the transcriptional activity.1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    PaxDbiP35712.
    PRIDEiP35712.

    PTM databases

    PhosphoSiteiP35712.

    Expressioni

    Tissue specificityi

    Expressed in a wide variety of tissues, most abundantly in skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiP35712.
    BgeeiP35712.
    CleanExiHS_SOX6.
    GenevestigatoriP35712.

    Organism-specific databases

    HPAiHPA001923.
    HPA003908.

    Interactioni

    Subunit structurei

    Interacts with DAZAP2.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SHOXO152663EBI-3505706,EBI-3505698

    Protein-protein interaction databases

    BioGridi120714. 13 interactions.
    IntActiP35712. 3 interactions.
    MINTiMINT-4719252.
    STRINGi9606.ENSP00000336946.

    Structurei

    3D structure databases

    ProteinModelPortaliP35712.
    SMRiP35712. Positions 619-688.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili184 – 26279Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi219 – 26143Gln-richAdd
    BLAST
    Compositional biasi280 – 2856Poly-Ala
    Compositional biasi313 – 3175Poly-Ala

    Sequence similaritiesi

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

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG253815.
    HOGENOMiHOG000056455.
    HOVERGENiHBG003915.
    InParanoidiP35712.
    KOiK09269.
    OMAiFENLGPQ.
    OrthoDBiEOG70087H.
    PhylomeDBiP35712.
    TreeFamiTF320471.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    IPR027153. SOX-6.
    [Graphical view]
    PANTHERiPTHR10270:SF89. PTHR10270:SF89. 1 hit.
    PfamiPF00505. HMG_box. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P35712-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSSKQATSPF ACAADGEDAM TQDLTSREKE EGSDQHVASH LPLHPIMHNK    50
    PHSEELPTLV STIQQDADWD SVLSSQQRME SENNKLCSLY SFRNTSTSPH 100
    KPDEGSRDRE IMTSVTFGTP ERRKGSLADV VDTLKQKKLE EMTRTEQEDS 150
    SCMEKLLSKD WKEKMERLNT SELLGEIKGT PESLAEKERQ LSTMITQLIS 200
    LREQLLAAHD EQKKLAASQI EKQRQQMDLA RQQQEQIARQ QQQLLQQQHK 250
    INLLQQQIQV QGHMPPLMIP IFPHDQRTLA AAAAAQQGFL FPPGITYKPG 300
    DNYPVQFIPS TMAAAAASGL SPLQLQKGHV SHPQINQRLK GLSDRFGRNL 350
    DTFEHGGGHS YNHKQIEQLY AAQLASMQVS PGAKMPSTPQ PPNTAGTVSP 400
    TGIKNEKRGT SPVTQVKDEA AAQPLNLSSR PKTAEPVKSP TSPTQNLFPA 450
    SKTSPVNLPN KSSIPSPIGG SLGRGSSLDI LSSLNSPALF GDQDTVMKAI 500
    QEARKMREQI QREQQQQQPH GVDGKLSSIN NMGLNSCRNE KERTRFENLG 550
    PQLTGKSNED GKLGPGVIDL TRPEDAEGSK AMNGSAAKLQ QYYCWPTGGA 600
    TVAEARVYRD ARGRASSEPH IKRPMNAFMV WAKDERRKIL QAFPDMHNSN 650
    ISKILGSRWK SMSNQEKQPY YEEQARLSKI HLEKYPNYKY KPRPKRTCIV 700
    DGKKLRIGEY KQLMRSRRQE MRQFFTVGQQ PQIPITTGTG VVYPGAITMA 750
    TTTPSPQMTS DCSSTSASPE PSLPVIQSTY GMKTDGGSLA GNEMINGEDE 800
    MEMYDDYEDD PKSDYSSENE APEAVSAN 828
    Length:828
    Mass (Da):91,921
    Last modified:November 25, 2008 - v3
    Checksum:i38CA781528C839CF
    GO
    Isoform 2 (identifier: P35712-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGRM
         327-367: Missing.
         477-477: S → SLGKWKSQHQEETYE

    Show »
    Length:804
    Mass (Da):89,332
    Checksum:i9280E8989FDCFFEE
    GO
    Isoform 3 (identifier: P35712-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         578-597: Missing.

    Show »
    Length:808
    Mass (Da):89,735
    Checksum:i93969BB5B2C71036
    GO
    Isoform 4 (identifier: P35712-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         327-367: Missing.
         477-477: S → SLGKWKSQHQEETYE

    Note: No experimental confirmation available.

    Show »
    Length:801
    Mass (Da):88,988
    Checksum:iA9B101C9C38D0D84
    GO

    Sequence cautioni

    The sequence BC037866 differs from that shown. Reason: Frameshift at position 505.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti330 – 3301V → A in AAK26115. (PubMed:11255018)Curated
    Sequence conflicti633 – 6331K → R in CAA46614. (PubMed:1614875)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MGRM in isoform 2. 1 PublicationVSP_039693
    Alternative sequencei327 – 36741Missing in isoform 2 and isoform 4. 2 PublicationsVSP_039694Add
    BLAST
    Alternative sequencei477 – 4771S → SLGKWKSQHQEETYE in isoform 2 and isoform 4. 2 PublicationsVSP_039695
    Alternative sequencei578 – 59720Missing in isoform 3. 1 PublicationVSP_039696Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS53604.1. [P35712-4]
    CCDS53605.1. [P35712-2]
    CCDS7821.1. [P35712-3]
    RefSeqiNP_001139283.1. NM_001145811.1. [P35712-4]
    NP_001139291.1. NM_001145819.1.
    NP_059978.1. NM_017508.2. [P35712-2]
    NP_201583.2. NM_033326.3. [P35712-3]
    UniGeneiHs.368226.

    Genome annotation databases

    EnsembliENST00000316399; ENSP00000324948; ENSG00000110693. [P35712-3]
    ENST00000396356; ENSP00000379644; ENSG00000110693. [P35712-3]
    ENST00000527619; ENSP00000434455; ENSG00000110693. [P35712-2]
    ENST00000528252; ENSP00000432134; ENSG00000110693. [P35712-4]
    ENST00000528429; ENSP00000433233; ENSG00000110693. [P35712-1]
    GeneIDi55553.
    KEGGihsa:55553.
    UCSCiuc001mmd.3. human. [P35712-2]
    uc001mme.3. human. [P35712-1]
    uc001mmf.3. human. [P35712-4]
    uc001mmg.3. human. [P35712-3]

    Polymorphism databases

    DMDMi215274178.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. [P35712-2 ]
    CCDS7821.1. [P35712-3 ]
    RefSeqi NP_001139283.1. NM_001145811.1. [P35712-4 ]
    NP_001139291.1. NM_001145819.1.
    NP_059978.1. NM_017508.2. [P35712-2 ]
    NP_201583.2. NM_033326.3. [P35712-3 ]
    UniGenei Hs.368226.

    3D structure databases

    ProteinModelPortali P35712.
    SMRi P35712. Positions 619-688.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120714. 13 interactions.
    IntActi P35712. 3 interactions.
    MINTi MINT-4719252.
    STRINGi 9606.ENSP00000336946.

    PTM databases

    PhosphoSitei P35712.

    Polymorphism databases

    DMDMi 215274178.

    Proteomic databases

    PaxDbi P35712.
    PRIDEi P35712.

    Protocols and materials databases

    DNASUi 55553.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316399 ; ENSP00000324948 ; ENSG00000110693 . [P35712-3 ]
    ENST00000396356 ; ENSP00000379644 ; ENSG00000110693 . [P35712-3 ]
    ENST00000527619 ; ENSP00000434455 ; ENSG00000110693 . [P35712-2 ]
    ENST00000528252 ; ENSP00000432134 ; ENSG00000110693 . [P35712-4 ]
    ENST00000528429 ; ENSP00000433233 ; ENSG00000110693 . [P35712-1 ]
    GeneIDi 55553.
    KEGGi hsa:55553.
    UCSCi uc001mmd.3. human. [P35712-2 ]
    uc001mme.3. human. [P35712-1 ]
    uc001mmf.3. human. [P35712-4 ]
    uc001mmg.3. human. [P35712-3 ]

    Organism-specific databases

    CTDi 55553.
    GeneCardsi GC11M015949.
    HGNCi HGNC:16421. SOX6.
    HPAi HPA001923.
    HPA003908.
    MIMi 607257. gene.
    neXtProti NX_P35712.
    PharmGKBi PA38137.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253815.
    HOGENOMi HOG000056455.
    HOVERGENi HBG003915.
    InParanoidi P35712.
    KOi K09269.
    OMAi FENLGPQ.
    OrthoDBi EOG70087H.
    PhylomeDBi P35712.
    TreeFami TF320471.

    Miscellaneous databases

    ChiTaRSi SOX6. human.
    GeneWikii SOX6.
    GenomeRNAii 55553.
    NextBioi 60012.
    PROi P35712.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35712.
    Bgeei P35712.
    CleanExi HS_SOX6.
    Genevestigatori P35712.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    IPR027153. SOX-6.
    [Graphical view ]
    PANTHERi PTHR10270:SF89. PTHR10270:SF89. 1 hit.
    Pfami PF00505. HMG_box. 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

    1. "Cloning, characterization and chromosome mapping of the human SOX6 gene."
      Cohen-Barak O., Hagiwara N., Arlt M.F., Horton J.P., Brilliant M.H.
      Gene 265:157-164(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
      Tissue: Lymphocyte and Myoblast.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
      Tissue: Testis.
    6. "A conserved family of genes related to the testis determining gene, SRY."
      Denny P., Swift S., Brand N., Dabhade N., Barton P., Ashworth A.
      Nucleic Acids Res. 20:2887-2887(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 632-685 (ISOFORMS 1/2/3).
    7. Cited for: SUMOYLATION AT LYS-404 AND LYS-417, MUTAGENESIS OF LYS-404 AND LYS-417, SUBCELLULAR LOCATION.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSOX6_HUMAN
    AccessioniPrimary (citable) accession number: P35712
    Secondary accession number(s): Q86VX7
    , Q9BXQ3, Q9BXQ4, Q9BXQ5, Q9H0I8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 136 of the entry and version 3 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 11
      Human chromosome 11: 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