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P57073 (SOX8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-8
Gene names
Name:SOX8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length446 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus Potential.

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Sequence caution

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

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processSertoli cell development

Inferred from sequence or structural similarity. Source: UniProtKB

adipose tissue development

Inferred from sequence or structural similarity. Source: UniProtKB

astrocyte fate commitment

Inferred from electronic annotation. Source: Ensembl

cell fate commitment

Inferred from sequence or structural similarity. Source: UniProtKB

cell maturation

Inferred from electronic annotation. Source: Ensembl

enteric nervous system development

Inferred from sequence or structural similarity. Source: UniProtKB

fat cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

in utero embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

male gonad development

Inferred from sequence or structural similarity. Source: UniProtKB

metanephric nephron tubule formation

Inferred from sequence or structural similarity. Source: UniProtKB

morphogenesis of a branching epithelium

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of apoptotic process

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of myoblast differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of photoreceptor cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

neural crest cell migration

Inferred from sequence or structural similarity. Source: UniProtKB

oligodendrocyte differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

osteoblast differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

peripheral nervous system development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of branching involved in ureteric bud morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of gliogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of osteoblast proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.5. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of hormone levels

Inferred from sequence or structural similarity. Source: UniProtKB

renal vesicle induction

Inferred from sequence or structural similarity. Source: UniProtKB

retina development in camera-type eye

Inferred from sequence or structural similarity. Source: UniProtKB

retinal rod cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

signal transduction

Inferred from sequence or structural similarity. Source: UniProtKB

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

ureter morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 18512230. Source: UniProtKB

   Molecular_functionDNA binding

Non-traceable author statement PubMed 10684944. Source: UniProtKB

RNA polymerase II core promoter sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 446446Transcription factor SOX-8
PRO_0000048733

Regions

DNA binding102 – 17069HMG box

Sequences

Sequence LengthMass (Da)Tools
P57073 [UniParc].

Last modified December 1, 2000. Version 1.
Checksum: AE453359051A6DB3

FASTA44647,314
        10         20         30         40         50         60 
MLDMSEARSQ PPCSPSGTAS SMSHVEDSDS DAPPSPAGSE GLGRAGVAVG GARGDPAEAA 

        70         80         90        100        110        120 
DERFPACIRD AVSQVLKGYD WSLVPMPVRG GGGGALKAKP HVKRPMNAFM VWAQAARRKL 

       130        140        150        160        170        180 
ADQYPHLHNA ELSKTLGKLW RLLSESEKRP FVEEAERLRV QHKKDHPDYK YQPRRRKSAK 

       190        200        210        220        230        240 
AGHSDSDSGA ELGPHPGGGA VYKAEAGLGD GHHHGDHTGQ THGPPTPPTT PKTELQQAGA 

       250        260        270        280        290        300 
KPELKLEGRR PVDSGRQNID FSNVDISELS SEVMGTMDAF DVHEFDQYLP LGGPAPPEPG 

       310        320        330        340        350        360 
QAYGGAYFHA GASPVWAHKS APSASASPTE TGPPRPHIKT EQPSPGHYGD QPRGSPDYGS 

       370        380        390        400        410        420 
CSGQSSATPA APAGPFAGSQ GDYGDLQASS YYGAYPGYAP GLYQYPCFHS PRRPYASPLL 

       430        440 
NGLALPPAHS PTSHWDQPVY TTLTRP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055402.2. NM_014587.4.
UniGeneHs.243678.

3D structure databases

ProteinModelPortalP57073.
SMRP57073. Positions 100-171.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119036. 7 interactions.
IntActP57073. 4 interactions.
STRING9606.ENSP00000293894.

PTM databases

PhosphoSiteP57073.

Polymorphism databases

DMDM10720294.

Proteomic databases

PaxDbP57073.
PRIDEP57073.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293894; ENSP00000293894; ENSG00000005513.
GeneID30812.
KEGGhsa:30812.
UCSCuc002ckn.3. human.

Organism-specific databases

CTD30812.
GeneCardsGC16P001038.
HGNCHGNC:11203. SOX8.
HPAHPA041640.
MIM605923. gene.
neXtProtNX_P57073.
PharmGKBPA36040.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324597.
HOGENOMHOG000108876.
HOVERGENHBG002061.
InParanoidP57073.
KOK09270.
OMADQSHGSP.
OrthoDBEOG7Q2N5K.
PhylomeDBP57073.

Gene expression databases

BgeeP57073.
CleanExHS_SOX8.
GenevestigatorP57073.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR022151. Sox_N.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSOX8. human.
GeneWikiSOX8.
GenomeRNAi30812.
NextBio52860.
PROP57073.
SOURCESearch...

Entry information

Entry nameSOX8_HUMAN
AccessionPrimary (citable) accession number: P57073
Secondary accession number(s): Q9NZW2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: April 16, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM