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P57073

- SOX8_HUMAN

UniProt

P57073 - SOX8_HUMAN

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Protein

Transcription factor SOX-8

Gene

SOX8

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

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 RNA polymerase II 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. ureter morphogenesis Source: UniProtKB
Complete GO annotation...

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. nuclear transcription factor complex Source: Ensembl
  3. nucleus Source: UniProtKB
Complete GO annotation...

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.
GeneTreeiENSGT00760000118988.
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

« Hide

        10         20         30         40         50
MLDMSEARSQ PPCSPSGTAS SMSHVEDSDS DAPPSPAGSE GLGRAGVAVG
60 70 80 90 100
GARGDPAEAA DERFPACIRD AVSQVLKGYD WSLVPMPVRG GGGGALKAKP
110 120 130 140 150
HVKRPMNAFM VWAQAARRKL ADQYPHLHNA ELSKTLGKLW RLLSESEKRP
160 170 180 190 200
FVEEAERLRV QHKKDHPDYK YQPRRRKSAK AGHSDSDSGA ELGPHPGGGA
210 220 230 240 250
VYKAEAGLGD GHHHGDHTGQ THGPPTPPTT PKTELQQAGA KPELKLEGRR
260 270 280 290 300
PVDSGRQNID FSNVDISELS SEVMGTMDAF DVHEFDQYLP LGGPAPPEPG
310 320 330 340 350
QAYGGAYFHA GASPVWAHKS APSASASPTE TGPPRPHIKT EQPSPGHYGD
360 370 380 390 400
QPRGSPDYGS CSGQSSATPA APAGPFAGSQ GDYGDLQASS YYGAYPGYAP
410 420 430 440
GLYQYPCFHS PRRPYASPLL NGLALPPAHS PTSHWDQPVY TTLTRP
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. Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 GC16P001041.
HGNCi HGNC:11203. SOX8.
HPAi HPA041640.
MIMi 605923. gene.
neXtProti NX_P57073.
PharmGKBi PA36040.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324597.
GeneTreei ENSGT00760000118988.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 115 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