Q04888 (SOX10_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor SOX-10

Alternative name(s):
Protein SOX-21
Transcription factor SOX-M

Gene names

Name:	Sox10
Synonyms:	Sox-10, Sox21

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	466 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia By similarity.
Subcellular location	Nucleus.
Involvement in disease	Defects in Sox10 are the cause of the mouse mutant dominant megacolon (dom). While dom/+ heterozygous mice display regional deficiencies of neural crest-derived enteric ganglia in the distal colon, dom/dom homozygous animals are embryonic lethal.
Sequence similarities	Contains 1 HMG box DNA-binding domain.
Sequence caution	The sequence AAB49282.1 differs from that shown. Reason: Frameshift at positions 16 and 392. The sequence AAB99738.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell maturation Inferred from mutant phenotype PubMed 15102707. Source: MGI developmental growth Inferred from mutant phenotype PubMed 16790476. Source: MGI digestive tract morphogenesis Inferred from mutant phenotype PubMed 15843399PubMed 6512238. Source: MGI enteric nervous system development Inferred from mutant phenotype PubMed 15572147. Source: UniProtKB in utero embryonic development Inferred from genetic interaction PubMed 16790476. Source: MGI melanocyte differentiation Inferred from mutant phenotype PubMed 16790476. Source: MGI negative regulation of apoptotic process Inferred from mutant phenotype PubMed 15572147. Source: UniProtKB negative regulation of canonical Wnt receptor signaling pathway Inferred from direct assay PubMed 17875931. Source: UniProtKB negative regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara neural crest cell migration Inferred from mutant phenotype PubMed 15572147. Source: UniProtKB oligodendrocyte differentiation Inferred from mutant phenotype PubMed 16790476PubMed 17084361. Source: MGI peripheral nervous system development Inferred from genetic interaction PubMed 16790476. Source: MGI positive regulation of gliogenesis Inferred from mutant phenotype PubMed 15572147. Source: UniProtKB positive regulation of neuroblast proliferation Inferred from mutant phenotype PubMed 16857183. Source: MGI positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 19304657. Source: MGI stem cell differentiation Inferred from electronic annotation. Source: Compara
Cellular_component	extrinsic to mitochondrial outer membrane Inferred from direct assay PubMed 19304657. Source: MGI nucleus Inferred from direct assay PubMed 15572147PubMed 15713637. Source: UniProtKB
Molecular_function	RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from direct assay PubMed 21610032. Source: UniProtKB RNA polymerase II distal enhancer sequence-specific DNA binding Inferred from direct assay PubMed 21610032. Source: UniProtKB RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from direct assay PubMed 15729346. Source: MGI chromatin binding Inferred from direct assay PubMed 15729346. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 466	466	Transcription factor SOX-10		PRO_0000048747
Regions
	DNA binding	104 – 172	69	HMG box
	Compositional bias	35 – 41	7	Poly-Gly
Amino acid modifications
	Modified residue	24	1	Phosphoserine By similarity
Natural variations
	Natural variant	11	1	E → V.
Experimental info
	Sequence conflict	41	1	G → V in AAB49282. Ref.4
	Sequence conflict	119	1	R → P in CAA79484. Ref.6
	Sequence conflict	357	1	K → E in AAB49282. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q04888 [UniParc]. Last modified July 15, 1999. Version 2. Checksum: 84862547F039E71F	FASTA	466	49,949
	10 20 30 40 50 60 MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD 70 80 90 100 110 120 GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR 130 140 150 160 170 180 KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN 190 200 210 220 230 240 GKAAQGEAEC PGGEAEQGGA AAIQAHYKSA HLDHRHPEEG SPMSDGNPEH PSGQSHGPPT 250 260 270 280 290 300 PPTTPKTELQ SGKADPKRDG RSLGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVTELDQY 310 320 330 340 350 360 LPPNGHPGHV GSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET 370 380 390 400 410 420 TGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHAGQASG 430 440 450 460 LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model." Southard-Smith E.M., Kos L., Pavan W.J. Nat. Genet. 18:60-64(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J.
[2]	"Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease." Herbarth B., Pingault V., Bondurand N., Kuhlbrodt K., Hermans-Borgmeyer I., Puliti A., Lemort N., Goossens M., Wegner M. Proc. Natl. Acad. Sci. U.S.A. 95:5161-5165(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J.
[3]	"The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor." Pusch C., Hustert E., Pfeifer D., Sudbeck P., Kist R., Roe B., Wang Z., Balling R., Blin N., Scherer G. Hum. Genet. 103:115-123(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"Isolation of a novel Sry-related gene that is expressed in high-metastatic K-1735 murine melanoma cells." Tani M., Shindo-Okada N., Hashimoto Y., Shiroishi T., Takenoshita S., Nagamachi Y., Yokota J. Genomics 39:30-37(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C3H/HeN.
[5]	"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]. Strain: C57BL/6J and FVB/N. Tissue: Mammary gland and Salivary gland.
[6]	"Seven new members of the Sox gene family expressed during mouse development." Wright E.M., Snopek B., Koopman P. Nucleic Acids Res. 21:744-744(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 112-167.
[7]	"Numerous members of the Sox family of HMG box-containing genes are expressed in developing mouse teeth." Stock D.W., Buchanan A.V., Zhao Z., Weiss K.M. Genomics 37:234-237(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-167. Strain: Swiss Webster. Tissue: Embryonic tooth.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF017182 mRNA. Translation: AAB99738.1. Different initiation. AF047043 mRNA. Translation: AAC24564.1. U66141 mRNA. Translation: AAB49282.1. Frameshift. BC018551 mRNA. Translation: AAH18551.1. BC023356 mRNA. Translation: AAH23356.1. BC025171 mRNA. Translation: AAH25171.1. Z18959 mRNA. Translation: CAA79484.1. U70441 mRNA. Translation: AAC52859.1.
IPI	IPI00929823.
PIR	S30242.
RefSeq	NP_035567.1. NM_011437.1.
UniGene	Mm.276739.
3D structure databases
ProteinModelPortal	Q04888.
SMR	Q04888. Positions 102-173.
ModBase	Search...
PTM databases
PhosphoSite	Q04888.
Proteomic databases
PaxDb	Q04888.
PRIDE	Q04888.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000040019; ENSMUSP00000039466; ENSMUSG00000033006.
GeneID	20665.
KEGG	mmu:20665.
UCSC	uc007wsu.2. mouse.
Organism-specific databases
CTD	6663.
MGI	MGI:98358. Sox10.
Phylogenomic databases
eggNOG	NOG295709.
GeneTree	ENSGT00670000097649.
HOVERGEN	HBG002061.
InParanoid	Q04888.
KO	K09270.
OMA	YYGHSSQ.
OrthoDB	EOG41C6WH.
Gene expression databases
ArrayExpress	Q04888.
Bgee	Q04888.
CleanEx	MM_SOX10. MM_SOX21.
Genevestigator	Q04888.
GermOnline	ENSMUSG00000033006. Mus musculus.
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	SOX10. mouse.
NextBio	299123.
SOURCE	Search...

Entry information

Entry name

SOX10_MOUSE

Accession

Primary (citable) accession number: Q04888
Secondary accession number(s): O08518 , O09141, O54856, P70416

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	July 15, 1999
Last modified:	May 29, 2013
This is version 124 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program