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Protein

Transcription factor SOX-8

Gene

SOX8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

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 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:11203. SOX8.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36040.

Polymorphism and mutation databases

BioMutaiSOX8.
DMDMi10720294.

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.
GenevisibleiP57073. HS.

Organism-specific databases

HPAiHPA041640.
HPA058665.

Interactioni

Protein-protein interaction databases

BioGridi119036. 6 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.

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.
CCDSiCCDS10428.1.
RefSeqiNP_055402.2. NM_014587.4.
UniGeneiHs.243678.

3D structure databases

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

Protein-protein interaction databases

BioGridi119036. 6 interactions.
IntActiP57073. 4 interactions.
STRINGi9606.ENSP00000293894.

PTM databases

PhosphoSiteiP57073.

Polymorphism and mutation databases

BioMutaiSOX8.
DMDMi10720294.

Proteomic databases

MaxQBiP57073.
PaxDbiP57073.
PRIDEiP57073.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi30812.
GeneCardsiGC16P001041.
HGNCiHGNC:11203. SOX8.
HPAiHPA041640.
HPA058665.
MIMi605923. gene.
neXtProtiNX_P57073.
PharmGKBiPA36040.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG324597.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000108876.
HOVERGENiHBG002061.
InParanoidiP57073.
KOiK09270.
OMAiDQSHGSP.
OrthoDBiEOG7Q2N5K.
PhylomeDBiP57073.

Miscellaneous databases

ChiTaRSiSOX8. human.
GeneWikiiSOX8.
GenomeRNAii30812.
NextBioi52860.
PROiP57073.
SOURCEiSearch...

Gene expression databases

BgeeiP57073.
CleanExiHS_SOX8.
GenevisibleiP57073. HS.

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]
ProtoNetiSearch...

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: July 22, 2015
This is version 120 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.