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P41225

- SOX3_HUMAN

UniProt

P41225 - SOX3_HUMAN

Protein

Transcription factor SOX-3

Gene

SOX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (07 Jun 2004)
      Previous versions | rss
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    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 similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi139 – 20769HMG boxPROSITE-ProRule annotationAdd
    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481A → AAAAAAAAAAAA in MRXGH. 1 Publication
    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).1 Publication
    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.

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti159 – 1591L → Q in CAA46616. (PubMed:1614875)Curated
    Sequence conflicti176 – 1761D → E in CAA46616. (PubMed:1614875)Curated
    Sequence conflicti202 – 2021E → D in CAA46616. (PubMed:1614875)Curated
    Sequence conflicti297 – 2993Missing in CAA50465. 1 PublicationCurated

    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. 1 Publication
    VAR_026452
    Natural varianti248 – 2481A → AAAAAAAAAAAA in MRXGH. 1 Publication
    VAR_033258

    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

    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: October 1, 2014
    This is version 123 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

    External Data

    Dasty 3