P57073 (SOX8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor SOX-8

Gene names

Name:

SOX8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	446 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Sertoli 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: Compara cell maturation Inferred from electronic annotation. Source: Compara 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 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: Compara negative regulation of transcription, DNA-dependent 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 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 regulation of hormone levels Inferred from sequence or structural similarity. Source: UniProtKB renal vesicle induction 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 spermatogenesis Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW ureter morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB nucleus Inferred from direct assay PubMed 18512230. Source: UniProtKB
Molecular_function	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: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 446	446	Transcription factor SOX-8		PRO_0000048733
Regions
	DNA binding	102 – 170	69	HMG box

Sequences

	Sequence		Length	Mass (Da)
	P57073 [UniParc]. Last modified December 1, 2000. Version 1. Checksum: AE453359051A6DB3	FASTA	446	47,314
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00299069.
RefSeq	NP_055402.2. NM_014587.3.
UniGene	Hs.243678.
3D structure databases
ProteinModelPortal	P57073.
ModBase	Search...
Protein-protein interaction databases
IntAct	P57073. 4 interactions.
STRING	9606.ENSP00000293894.
PTM databases
PhosphoSite	P57073.
Polymorphism databases
DMDM	10720294.
Proteomic databases
PaxDb	P57073.
PRIDE	P57073.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293894; ENSP00000293894; ENSG00000005513.
GeneID	30812.
KEGG	hsa:30812.
UCSC	uc002ckn.3. human.
Organism-specific databases
CTD	30812.
GeneCards	GC16P001033.
HGNC	HGNC:11203. SOX8.
HPA	HPA041640.
MIM	605923. gene.
neXtProt	NX_P57073.
PharmGKB	PA36040.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG324597.
HOGENOM	HOG000108876.
HOVERGEN	HBG002061.
InParanoid	P57073.
KO	K09270.
OMA	DQSHGSP.
OrthoDB	EOG4ZKJMD.
PhylomeDB	P57073.
Gene expression databases
Bgee	P57073.
CleanEx	HS_SOX8.
Genevestigator	P57073.
GermOnline	ENSG00000005513. Homo sapiens.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. IPR022151. Sox_N. [Graphical view]
Pfam	PF00505. HMG_box. 1 hit. PF12444. Sox_N. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SOX8. human.
GenomeRNAi	30812.
NextBio	52860.
SOURCE	Search...

Entry information

Entry name

SOX8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.