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Protein

Transcription factor SOX-3

Gene

SOX3

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

Functioni

Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi139 – 207HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134595-MONOMER.
ReactomeiR-HSA-3769402. Deactivation of the beta-catenin transactivating complex.
SIGNORiP41225.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-3
Gene namesi
Name:SOX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:11199. SOX3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Panhypopituitarism X-linked (PHPX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAffected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.
See also OMIM:312000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026452248A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 1 Publication1
Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency.
See also OMIM:300123
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033258248A → AAAAAAAAAAAA in MRXGH. 1 Publication1
46,XX sex reversal 3 (SRXX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal).
See also OMIM:300833

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi6658.
MalaCardsiSOX3.
MIMi300123. phenotype.
300833. phenotype.
312000. phenotype.
OpenTargetsiENSG00000134595.
Orphaneti393. 46,XX testicular disorder of sex development.
90695. Panhypopituitarism.
3157. Septo-optic dysplasia.
79495. X-linked congenital generalized hypertrichosis.
67045. X-linked intellectual disability with isolated growth hormone deficiency.
PharmGKBiPA36036.

Polymorphism and mutation databases

BioMutaiSOX3.
DMDMi48429228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487201 – 446Transcription factor SOX-3Add BLAST446

Proteomic databases

EPDiP41225.
PaxDbiP41225.
PeptideAtlasiP41225.
PRIDEiP41225.

PTM databases

iPTMnetiP41225.
PhosphoSitePlusiP41225.

Expressioni

Gene expression databases

BgeeiENSG00000134595.
CleanExiHS_SOX3.
GenevisibleiP41225. HS.

Organism-specific databases

HPAiCAB025842.

Interactioni

Subunit structurei

Interacts with SOX2 and FGFR1.By similarity

Protein-protein interaction databases

BioGridi112541. 1 interactor.
IntActiP41225. 2 interactors.
STRINGi9606.ENSP00000359567.

Structurei

3D structure databases

ProteinModelPortaliP41225.
SMRiP41225.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi129 – 133Poly-Gly5
Compositional biasi234 – 248Poly-AlaAdd BLAST15
Compositional biasi290 – 294Poly-Pro5
Compositional biasi324 – 330Poly-Ala7
Compositional biasi340 – 347Poly-Ala8
Compositional biasi353 – 364Poly-AlaAdd BLAST12

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0527. Eukaryota.
ENOG410XT0K. LUCA.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000231647.
HOVERGENiHBG105663.
InParanoidiP41225.
KOiK09267.
OMAiALPPMHR.
OrthoDBiEOG091G0F15.
PhylomeDBiP41225.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029550. SOX-3.
IPR022097. SOX_fam.
[Graphical view]
PANTHERiPTHR10270:SF111. PTHR10270:SF111. 2 hits.
PfamiPF00505. HMG_box. 1 hit.
PF12336. SOXp. 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.

P41225-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRPVRENSSG ARSPRVPADL ARSILISLPF PPDSLAHRPP SSAPTESQGL
60 70 80 90 100
FTVAAPAPGA PSPPATLAHL LPAPAMYSLL ETELKNPVGT PTQAAGTGGP
110 120 130 140 150
AAPGGAGKSS ANAAGGANSG GGSSGGASGG GGGTDQDRVK RPMNAFMVWS
160 170 180 190 200
RGQRRKMALE NPKMHNSEIS KRLGADWKLL TDAEKRPFID EAKRLRAVHM
210 220 230 240 250
KEYPDYKYRP RRKTKTLLKK DKYSLPSGLL PPGAAAAAAA AAAAAAAASS
260 270 280 290 300
PVGVGQRLDT YTHVNGWANG AYSLVQEQLG YAQPPSMSSP PPPPALPPMH
310 320 330 340 350
RYDMAGLQYS PMMPPGAQSY MNVAAAAAAA SGYGGMAPSA TAAAAAAYGQ
360 370 380 390 400
QPATAAAAAA AAAAMSLGPM GSVVKSEPSS PPPAIASHSQ RACLGDLRDM
410 420 430 440
ISMYLPPGGD AADAASPLPG GRLHGVHQHY QGAGTAVNGT VPLTHI
Length:446
Mass (Da):45,210
Last modified:June 7, 2004 - v2
Checksum:iF79E79C2D16BB929
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti159L → Q in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti176D → E in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti202E → D in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti297 – 299Missing in CAA50465 (Ref. 2) Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02645143A → T.1 PublicationCorresponds to variant rs73637709dbSNPEnsembl.1
Natural variantiVAR_026452248A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 1 Publication1
Natural variantiVAR_033258248A → AAAAAAAAAAAA in MRXGH. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X71135 Genomic DNA. Translation: CAA50465.1.
AF264713 Genomic DNA. Translation: AAF73059.1.
AL121875 Genomic DNA. Translation: CAB87584.1.
BC093863 mRNA. Translation: AAH93863.1.
BC093865 mRNA. Translation: AAH93865.1.
X65665 mRNA. Translation: CAA46616.1.
CCDSiCCDS14669.1.
PIRiI38239.
S22942.
RefSeqiNP_005625.2. NM_005634.2.
UniGeneiHs.157429.

Genome annotation databases

EnsembliENST00000370536; ENSP00000359567; ENSG00000134595.
GeneIDi6658.
KEGGihsa:6658.
UCSCiuc004fbd.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X71135 Genomic DNA. Translation: CAA50465.1.
AF264713 Genomic DNA. Translation: AAF73059.1.
AL121875 Genomic DNA. Translation: CAB87584.1.
BC093863 mRNA. Translation: AAH93863.1.
BC093865 mRNA. Translation: AAH93865.1.
X65665 mRNA. Translation: CAA46616.1.
CCDSiCCDS14669.1.
PIRiI38239.
S22942.
RefSeqiNP_005625.2. NM_005634.2.
UniGeneiHs.157429.

3D structure databases

ProteinModelPortaliP41225.
SMRiP41225.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112541. 1 interactor.
IntActiP41225. 2 interactors.
STRINGi9606.ENSP00000359567.

PTM databases

iPTMnetiP41225.
PhosphoSitePlusiP41225.

Polymorphism and mutation databases

BioMutaiSOX3.
DMDMi48429228.

Proteomic databases

EPDiP41225.
PaxDbiP41225.
PeptideAtlasiP41225.
PRIDEiP41225.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370536; ENSP00000359567; ENSG00000134595.
GeneIDi6658.
KEGGihsa:6658.
UCSCiuc004fbd.2. human.

Organism-specific databases

CTDi6658.
DisGeNETi6658.
GeneCardsiSOX3.
HGNCiHGNC:11199. SOX3.
HPAiCAB025842.
MalaCardsiSOX3.
MIMi300123. phenotype.
300833. phenotype.
312000. phenotype.
313430. gene.
neXtProtiNX_P41225.
OpenTargetsiENSG00000134595.
Orphaneti393. 46,XX testicular disorder of sex development.
90695. Panhypopituitarism.
3157. Septo-optic dysplasia.
79495. X-linked congenital generalized hypertrichosis.
67045. X-linked intellectual disability with isolated growth hormone deficiency.
PharmGKBiPA36036.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0527. Eukaryota.
ENOG410XT0K. LUCA.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000231647.
HOVERGENiHBG105663.
InParanoidiP41225.
KOiK09267.
OMAiALPPMHR.
OrthoDBiEOG091G0F15.
PhylomeDBiP41225.
TreeFamiTF351735.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134595-MONOMER.
ReactomeiR-HSA-3769402. Deactivation of the beta-catenin transactivating complex.
SIGNORiP41225.

Miscellaneous databases

GeneWikiiSOX3.
GenomeRNAii6658.
PROiP41225.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134595.
CleanExiHS_SOX3.
GenevisibleiP41225. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029550. SOX-3.
IPR022097. SOX_fam.
[Graphical view]
PANTHERiPTHR10270:SF111. PTHR10270:SF111. 2 hits.
PfamiPF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOX3_HUMAN
AccessioniPrimary (citable) accession number: P41225
Secondary accession number(s): P35714, Q5JWI3, Q9NP49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: June 7, 2004
Last modified: November 30, 2016
This is version 143 of the entry and version 2 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

Caution

Was originally termed SOX-9.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.