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P35712

- SOX6_HUMAN

UniProt

P35712 - SOX6_HUMAN

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Protein

Transcription factor SOX-6

Gene

SOX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. transcription regulatory region DNA binding Source: Ensembl

GO - Biological processi

  1. astrocyte differentiation Source: Ensembl
  2. cardiac muscle cell 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 organ development Source: UniProtKB
  10. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. oligodendrocyte cell fate specification Source: Ensembl
  12. positive regulation of cartilage development Source: UniProtKB
  13. positive regulation of chondrocyte differentiation Source: UniProtKB
  14. positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
  15. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  16. post-embryonic development Source: Ensembl
  17. regulation of transcription, DNA-templated Source: UniProtKB
  18. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

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
Complete GO annotation...

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

MaxQBiP35712.
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

BgeeiP35712.
CleanExiHS_SOX6.
ExpressionAtlasiP35712. baseline and differential.
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.
GeneTreeiENSGT00760000119274.
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

        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
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

MaxQBi P35712.
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.
GeneTreei ENSGT00760000119274.
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

Bgeei P35712.
CleanExi HS_SOX6.
ExpressionAtlasi P35712. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 137 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