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P41225

- SOX3_HUMAN

UniProt

P41225 - SOX3_HUMAN

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Protein

Transcription factor SOX-3

Gene
SOX3
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi139 – 20769HMG boxAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
  3. RNA polymerase II transcription corepressor activity Source: UniProtKB

GO - Biological processi

  1. central nervous system development Source: ProtInc
  2. face development Source: UniProtKB
  3. hypothalamus development Source: UniProtKB
  4. negative regulation of neuron differentiation Source: UniProtKB
  5. organ morphogenesis Source: Ensembl
  6. pituitary gland development Source: UniProtKB
  7. sensory organ development Source: UniProtKB
  8. Sertoli cell development Source: Ensembl
  9. sex determination Source: UniProtKB
  10. spermatid differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-3
Gene namesi
Name:SOX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11199. SOX3.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Panhypopituitarism X-linked (PHPX) [MIM:312000]: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti248 – 2481A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 2 Publications
VAR_026452
Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH) [MIM:300123]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti248 – 2481A → AAAAAAAAAAAA in MRXGH. 2 Publications
VAR_033258
46,XX sex reversal 3 (SRXX3) [MIM:300833]: A condition in which male gonads develop in a genetic female (female to male sex reversal).
Note: 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.1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi300123. phenotype.
300833. phenotype.
312000. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 446446Transcription factor SOX-3PRO_0000048720Add
BLAST

Proteomic databases

PaxDbiP41225.
PRIDEiP41225.

PTM databases

PhosphoSiteiP41225.

Expressioni

Gene expression databases

BgeeiP41225.
CleanExiHS_SOX3.
GenevestigatoriP41225.

Interactioni

Subunit structurei

Interacts with SOX2 and FGFR1 By similarity.

Protein-protein interaction databases

BioGridi112541. 1 interaction.
IntActiP41225. 1 interaction.
STRINGi9606.ENSP00000359567.

Structurei

3D structure databases

ProteinModelPortaliP41225.
SMRiP41225. Positions 137-215.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi129 – 1335Poly-Gly
Compositional biasi234 – 24815Poly-AlaAdd
BLAST
Compositional biasi290 – 2945Poly-Pro
Compositional biasi324 – 3307Poly-Ala
Compositional biasi340 – 3478Poly-Ala
Compositional biasi353 – 36412Poly-AlaAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG321816.
HOGENOMiHOG000231647.
HOVERGENiHBG105663.
InParanoidiP41225.
KOiK09267.
OMAiSGYGGMA.
OrthoDBiEOG7TMZVP.
PhylomeDBiP41225.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029550. SOX-3.
IPR022097. TF_SOX.
[Graphical view]
PANTHERiPTHR10270:SF111. PTHR10270:SF111. 1 hit.
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

MRPVRENSSG ARSPRVPADL ARSILISLPF PPDSLAHRPP SSAPTESQGL    50
FTVAAPAPGA PSPPATLAHL LPAPAMYSLL ETELKNPVGT PTQAAGTGGP 100
AAPGGAGKSS ANAAGGANSG GGSSGGASGG GGGTDQDRVK RPMNAFMVWS 150
RGQRRKMALE NPKMHNSEIS KRLGADWKLL TDAEKRPFID EAKRLRAVHM 200
KEYPDYKYRP RRKTKTLLKK DKYSLPSGLL PPGAAAAAAA AAAAAAAASS 250
PVGVGQRLDT YTHVNGWANG AYSLVQEQLG YAQPPSMSSP PPPPALPPMH 300
RYDMAGLQYS PMMPPGAQSY MNVAAAAAAA SGYGGMAPSA TAAAAAAYGQ 350
QPATAAAAAA AAAAMSLGPM GSVVKSEPSS PPPAIASHSQ RACLGDLRDM 400
ISMYLPPGGD AADAASPLPG GRLHGVHQHY QGAGTAVNGT VPLTHI 446
Length:446
Mass (Da):45,210
Last modified:June 7, 2004 - v2
Checksum:iF79E79C2D16BB929
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431A → T.1 Publication
Corresponds to variant rs73637709 [ dbSNP | Ensembl ].
VAR_026451
Natural varianti248 – 2481A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 2 Publications
VAR_026452
Natural varianti248 – 2481A → AAAAAAAAAAAA in MRXGH. 2 Publications
VAR_033258

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti159 – 1591L → Q in CAA46616. 1 Publication
Sequence conflicti176 – 1761D → E in CAA46616. 1 Publication
Sequence conflicti202 – 2021E → D in CAA46616. 1 Publication
Sequence conflicti297 – 2993Missing in CAA50465. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi48429228.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14669.1.
PIRi I38239.
S22942.
RefSeqi NP_005625.2. NM_005634.2.
UniGenei Hs.157429.

3D structure databases

ProteinModelPortali P41225.
SMRi P41225. Positions 137-215.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112541. 1 interaction.
IntActi P41225. 1 interaction.
STRINGi 9606.ENSP00000359567.

PTM databases

PhosphoSitei P41225.

Polymorphism databases

DMDMi 48429228.

Proteomic databases

PaxDbi P41225.
PRIDEi P41225.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370536 ; ENSP00000359567 ; ENSG00000134595 .
GeneIDi 6658.
KEGGi hsa:6658.
UCSCi uc004fbd.1. human.

Organism-specific databases

CTDi 6658.
GeneCardsi GC0XM139585.
HGNCi HGNC:11199. SOX3.
MIMi 300123. phenotype.
300833. phenotype.
312000. phenotype.
313430. gene.
neXtProti NX_P41225.
Orphaneti 393. 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.
PharmGKBi PA36036.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321816.
HOGENOMi HOG000231647.
HOVERGENi HBG105663.
InParanoidi P41225.
KOi K09267.
OMAi SGYGGMA.
OrthoDBi EOG7TMZVP.
PhylomeDBi P41225.
TreeFami TF351735.

Miscellaneous databases

GeneWikii SOX3.
GenomeRNAii 6658.
NextBioi 25955.
PROi P41225.
SOURCEi Search...

Gene expression databases

Bgeei P41225.
CleanExi HS_SOX3.
Genevestigatori P41225.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR029550. SOX-3.
IPR022097. TF_SOX.
[Graphical view ]
PANTHERi PTHR10270:SF111. PTHR10270:SF111. 1 hit.
Pfami PF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Clarification of the genomic sequence for human SOX3."
    Gorry M.C., Hart P.S., Sashi V., Hart T.C.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [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. "A conserved family of genes related to the testis determining gene, SRY."
    Denny P., Swift S., Brand N., Dabhade N., Barton P., Ashworth A.
    Nucleic Acids Res. 20:2887-2887(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 150-203.
  6. Cited for: FUNCTION, INVOLVEMENT IN SRXX3.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: VARIANT MRXGH ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-248 INS.
  9. Cited for: VARIANT PHPX ALA-ALA-ALA-ALA-ALA-ALA-ALA-248 INS, VARIANT THR-43.

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: September 3, 2014
This is version 122 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 (1 Publication) termed SOX-9.

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

External Data

Dasty 3

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