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P57073

- SOX8_HUMAN

UniProt

P57073 - SOX8_HUMAN

Protein

Transcription factor SOX-8

Gene

SOX8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi102 – 17069HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. adipose tissue development Source: UniProtKB
    2. astrocyte fate commitment Source: Ensembl
    3. cell fate commitment Source: UniProtKB
    4. cell maturation Source: Ensembl
    5. enteric nervous system development Source: UniProtKB
    6. fat cell differentiation Source: UniProtKB
    7. in utero embryonic development Source: UniProtKB
    8. male gonad development Source: UniProtKB
    9. metanephric nephron tubule formation Source: UniProtKB
    10. morphogenesis of a branching epithelium Source: UniProtKB
    11. negative regulation of apoptotic process Source: UniProtKB
    12. negative regulation of myoblast differentiation Source: UniProtKB
    13. negative regulation of photoreceptor cell differentiation Source: Ensembl
    14. negative regulation of transcription, DNA-templated Source: UniProtKB
    15. neural crest cell migration Source: UniProtKB
    16. oligodendrocyte differentiation Source: UniProtKB
    17. osteoblast differentiation Source: UniProtKB
    18. peripheral nervous system development Source: UniProtKB
    19. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    20. positive regulation of gliogenesis Source: UniProtKB
    21. positive regulation of kidney development Source: UniProtKB
    22. positive regulation of osteoblast proliferation Source: UniProtKB
    23. positive regulation of transcription, DNA-templated Source: UniProtKB
    24. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    25. regulation of hormone levels Source: UniProtKB
    26. renal vesicle induction Source: UniProtKB
    27. retina development in camera-type eye Source: UniProtKB
    28. retinal rod cell differentiation Source: UniProtKB
    29. Sertoli cell development Source: UniProtKB
    30. signal transduction Source: UniProtKB
    31. skeletal muscle cell differentiation Source: Ensembl
    32. spermatogenesis Source: UniProtKB
    33. transcription, DNA-templated Source: UniProtKB-KW
    34. ureter morphogenesis Source: UniProtKB

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-8
    Gene namesi
    Name:SOX8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:11203. SOX8.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36040.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 446446Transcription factor SOX-8PRO_0000048733Add
    BLAST

    Proteomic databases

    MaxQBiP57073.
    PaxDbiP57073.
    PRIDEiP57073.

    PTM databases

    PhosphoSiteiP57073.

    Expressioni

    Gene expression databases

    BgeeiP57073.
    CleanExiHS_SOX8.
    GenevestigatoriP57073.

    Organism-specific databases

    HPAiHPA041640.

    Interactioni

    Protein-protein interaction databases

    BioGridi119036. 7 interactions.
    IntActiP57073. 4 interactions.
    STRINGi9606.ENSP00000293894.

    Structurei

    3D structure databases

    ProteinModelPortaliP57073.
    SMRiP57073. Positions 100-171.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG324597.
    HOGENOMiHOG000108876.
    HOVERGENiHBG002061.
    InParanoidiP57073.
    KOiK09270.
    OMAiDQSHGSP.
    OrthoDBiEOG7Q2N5K.
    PhylomeDBiP57073.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    IPR022151. Sox_N.
    [Graphical view]
    PfamiPF00505. HMG_box. 1 hit.
    PF12444. Sox_N. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P57073-1 [UniParc]FASTAAdd to Basket

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    MLDMSEARSQ PPCSPSGTAS SMSHVEDSDS DAPPSPAGSE GLGRAGVAVG    50
    GARGDPAEAA DERFPACIRD AVSQVLKGYD WSLVPMPVRG GGGGALKAKP 100
    HVKRPMNAFM VWAQAARRKL ADQYPHLHNA ELSKTLGKLW RLLSESEKRP 150
    FVEEAERLRV QHKKDHPDYK YQPRRRKSAK AGHSDSDSGA ELGPHPGGGA 200
    VYKAEAGLGD GHHHGDHTGQ THGPPTPPTT PKTELQQAGA KPELKLEGRR 250
    PVDSGRQNID FSNVDISELS SEVMGTMDAF DVHEFDQYLP LGGPAPPEPG 300
    QAYGGAYFHA GASPVWAHKS APSASASPTE TGPPRPHIKT EQPSPGHYGD 350
    QPRGSPDYGS CSGQSSATPA APAGPFAGSQ GDYGDLQASS YYGAYPGYAP 400
    GLYQYPCFHS PRRPYASPLL NGLALPPAHS PTSHWDQPVY TTLTRP 446
    Length:446
    Mass (Da):47,314
    Last modified:December 1, 2000 - v1
    Checksum:iAE453359051A6DB3
    GO

    Sequence cautioni

    The sequence CAB75612.1 differs from that shown. Reason: Erroneous initiation.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF226675 mRNA. Translation: AAF35886.1.
    AE006465 Genomic DNA. Translation: AAK61260.1.
    Z99757 Genomic DNA. Translation: CAB75612.1. Different initiation.
    BC031797 mRNA. Translation: AAH31797.1.
    AF164104 mRNA. Translation: AAF37424.1.
    CCDSiCCDS10428.1.
    RefSeqiNP_055402.2. NM_014587.4.
    UniGeneiHs.243678.

    Genome annotation databases

    EnsembliENST00000293894; ENSP00000293894; ENSG00000005513.
    GeneIDi30812.
    KEGGihsa:30812.
    UCSCiuc002ckn.3. human.

    Polymorphism databases

    DMDMi10720294.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF226675 mRNA. Translation: AAF35886.1 .
    AE006465 Genomic DNA. Translation: AAK61260.1 .
    Z99757 Genomic DNA. Translation: CAB75612.1 . Different initiation.
    BC031797 mRNA. Translation: AAH31797.1 .
    AF164104 mRNA. Translation: AAF37424.1 .
    CCDSi CCDS10428.1.
    RefSeqi NP_055402.2. NM_014587.4.
    UniGenei Hs.243678.

    3D structure databases

    ProteinModelPortali P57073.
    SMRi P57073. Positions 100-171.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119036. 7 interactions.
    IntActi P57073. 4 interactions.
    STRINGi 9606.ENSP00000293894.

    PTM databases

    PhosphoSitei P57073.

    Polymorphism databases

    DMDMi 10720294.

    Proteomic databases

    MaxQBi P57073.
    PaxDbi P57073.
    PRIDEi P57073.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293894 ; ENSP00000293894 ; ENSG00000005513 .
    GeneIDi 30812.
    KEGGi hsa:30812.
    UCSCi uc002ckn.3. human.

    Organism-specific databases

    CTDi 30812.
    GeneCardsi GC16P001038.
    HGNCi HGNC:11203. SOX8.
    HPAi HPA041640.
    MIMi 605923. gene.
    neXtProti NX_P57073.
    PharmGKBi PA36040.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG324597.
    HOGENOMi HOG000108876.
    HOVERGENi HBG002061.
    InParanoidi P57073.
    KOi K09270.
    OMAi DQSHGSP.
    OrthoDBi EOG7Q2N5K.
    PhylomeDBi P57073.

    Miscellaneous databases

    ChiTaRSi SOX8. human.
    GeneWikii SOX8.
    GenomeRNAii 30812.
    NextBioi 52860.
    PROi P57073.
    SOURCEi Search...

    Gene expression databases

    Bgeei P57073.
    CleanExi HS_SOX8.
    Genevestigatori P57073.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    IPR022151. Sox_N.
    [Graphical view ]
    Pfami PF00505. HMG_box. 1 hit.
    PF12444. Sox_N. 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. "SOX8: a newly identified human gene expressed in paediatric brain tumours and a candidate for the mental retardation phenotype in ATR-16."
      Cheng Y.-C., Badge R.M., Armour J.A.L., Scotting P.J.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Brain.
    5. "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome."
      Pfeifer D., Poulat F., Holinski-Feder E., Kooy F., Scherer G.
      Genomics 63:108-116(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 119-446.

    Entry informationi

    Entry nameiSOX8_HUMAN
    AccessioniPrimary (citable) accession number: P57073
    Secondary accession number(s): Q9NZW2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 114 of the entry and version 1 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 16
      Human chromosome 16: 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