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O94993

- SOX30_HUMAN

UniProt

O94993 - SOX30_HUMAN

Protein

Transcription factor SOX-30

Gene

SOX30

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Transcriptional activator. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi337 – 40569HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: UniProtKB
    2. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    3. response to corticosteroid Source: UniProtKB
    4. spermatogenesis Source: Ensembl
    5. transcription, DNA-templated Source: UniProtKB-KW
    6. transcription from RNA polymerase II promoter Source: GOC

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-30
    Gene namesi
    Name:SOX30
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:30635. SOX30.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134876614.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 753753Transcription factor SOX-30PRO_0000048773Add
    BLAST

    Proteomic databases

    PaxDbiO94993.
    PRIDEiO94993.

    PTM databases

    PhosphoSiteiO94993.

    Expressioni

    Tissue specificityi

    Expressed in testis.1 Publication

    Gene expression databases

    BgeeiO94993.
    CleanExiHS_SOX30.
    GenevestigatoriO94993.

    Organism-specific databases

    HPAiCAB009382.
    HPA006159.

    Interactioni

    Protein-protein interaction databases

    BioGridi116247. 13 interactions.
    IntActiO94993. 12 interactions.
    MINTiMINT-1439929.
    STRINGi9606.ENSP00000265007.

    Structurei

    3D structure databases

    ProteinModelPortaliO94993.
    SMRiO94993. Positions 337-409.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi6 – 4136Pro-richAdd
    BLAST
    Compositional biasi564 – 64683Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG329829.
    HOGENOMiHOG000070158.
    HOVERGENiHBG057980.
    InParanoidiO94993.
    KOiK09271.
    OMAiVILAQPS.
    OrthoDBiEOG77HDD4.
    PhylomeDBiO94993.
    TreeFamiTF336594.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    [Graphical view]
    PfamiPF00505. HMG_box. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O94993-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MERARPEPPP QPRPLRPAPP PLPVEGTSFW AAAMEPPPSS PTLSAAASAT    50
    LASSCGEAVA SGLQPAVRRL LQVKPEQVLL LPQPQAQNEE AAASSAQARL 100
    LQFRPDLRLL QPPTASDGAT SRPELHPVQP LALHVKAKKQ KLGPSLDQSV 150
    GPRGAVETGP RASRVVKLEG PGPALGYFRG DEKGKLEAEE VMRDSMQGGA 200
    GKSPAAIREG VIKTEEPERL LEDCRLGAEP ASNGLVHGSA EVILAPTSGA 250
    FGPHQQDLRI PLTLHTVPPG ARIQFQGAPP SELIRLTKVP LTPVPTKMQS 300
    LLEPSVKIET KDVPLTVLPS DAGIPDTPFS KDRNGHVKRP MNAFMVWARI 350
    HRPALAKANP AANNAEISVQ LGLEWNKLSE EQKKPYYDEA QKIKEKHREE 400
    FPGWVYQPRP GKRKRFPLSV SNVFSGTTQN IISTNPTTVY PYRSPTYSVV 450
    IPSLQNPITH PVGETSPAIQ LPTPAVQSPS PVTLFQPSVS SAAQVAVQDP 500
    SLPVYPALPP QRFTGPSQTD THQLHSEATH TVKQPTPVSL ESANRISSSA 550
    STAHARFATS TIQPPREYSS VSPCPRSAPI PQASPIPHPH VYQPPPLGHP 600
    ATLFGTPPRF SFHHPYFLPG PHYFPSSTCP YSRPPFGYGN FPSSMPECLS 650
    YYEDRYPKHE GIFSTLNRDY SFRDYSSECT HSENSRSCEN MNGTSYYNSH 700
    SHSGEENLNP VPQLDIGTLE NVFTAPTSTP SSIQQVNVTD SDEEEEEKVL 750
    RDL 753
    Length:753
    Mass (Da):81,854
    Last modified:May 1, 1999 - v1
    Checksum:iE9BF1409EE7FE81D
    GO
    Isoform 2 (identifier: O94993-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         463-501: GETSPAIQLP...AAQVAVQDPS → VHALTVGLPL...TQNMRVSFQL
         502-753: Missing.

    Show »
    Length:501
    Mass (Da):54,290
    Checksum:iCA0DD5459EC45218
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti429 – 4291Q → K.1 Publication
    Corresponds to variant rs12188040 [ dbSNP | Ensembl ].
    VAR_049563
    Natural varianti749 – 7491V → M.
    Corresponds to variant rs889057 [ dbSNP | Ensembl ].
    VAR_024485

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei463 – 50139GETSP…VQDPS → VHALTVGLPLAMEIFRVQCQ NALVIMKTGTQNMRVSFQL in isoform 2. 1 PublicationVSP_002205Add
    BLAST
    Alternative sequencei502 – 753252Missing in isoform 2. 1 PublicationVSP_002206Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022083 mRNA. Translation: BAA37146.1.
    AB022441 mRNA. Translation: BAA37149.1.
    BC033492 mRNA. Translation: AAH33492.2.
    CCDSiCCDS4339.1. [O94993-1]
    CCDS4340.1. [O94993-2]
    RefSeqiNP_008948.1. NM_007017.2. [O94993-2]
    NP_848511.1. NM_178424.1. [O94993-1]
    UniGeneiHs.744348.

    Genome annotation databases

    EnsembliENST00000265007; ENSP00000265007; ENSG00000039600. [O94993-1]
    ENST00000311371; ENSP00000309343; ENSG00000039600. [O94993-2]
    GeneIDi11063.
    KEGGihsa:11063.
    UCSCiuc003lxb.1. human. [O94993-1]
    uc003lxc.1. human. [O94993-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022083 mRNA. Translation: BAA37146.1 .
    AB022441 mRNA. Translation: BAA37149.1 .
    BC033492 mRNA. Translation: AAH33492.2 .
    CCDSi CCDS4339.1. [O94993-1 ]
    CCDS4340.1. [O94993-2 ]
    RefSeqi NP_008948.1. NM_007017.2. [O94993-2 ]
    NP_848511.1. NM_178424.1. [O94993-1 ]
    UniGenei Hs.744348.

    3D structure databases

    ProteinModelPortali O94993.
    SMRi O94993. Positions 337-409.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116247. 13 interactions.
    IntActi O94993. 12 interactions.
    MINTi MINT-1439929.
    STRINGi 9606.ENSP00000265007.

    PTM databases

    PhosphoSitei O94993.

    Proteomic databases

    PaxDbi O94993.
    PRIDEi O94993.

    Protocols and materials databases

    DNASUi 11063.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265007 ; ENSP00000265007 ; ENSG00000039600 . [O94993-1 ]
    ENST00000311371 ; ENSP00000309343 ; ENSG00000039600 . [O94993-2 ]
    GeneIDi 11063.
    KEGGi hsa:11063.
    UCSCi uc003lxb.1. human. [O94993-1 ]
    uc003lxc.1. human. [O94993-2 ]

    Organism-specific databases

    CTDi 11063.
    GeneCardsi GC05M157053.
    H-InvDB HIX0005360.
    HGNCi HGNC:30635. SOX30.
    HPAi CAB009382.
    HPA006159.
    MIMi 606698. gene.
    neXtProti NX_O94993.
    PharmGKBi PA134876614.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG329829.
    HOGENOMi HOG000070158.
    HOVERGENi HBG057980.
    InParanoidi O94993.
    KOi K09271.
    OMAi VILAQPS.
    OrthoDBi EOG77HDD4.
    PhylomeDBi O94993.
    TreeFami TF336594.

    Miscellaneous databases

    ChiTaRSi SOX30. human.
    GenomeRNAii 11063.
    NextBioi 42041.
    PROi O94993.
    SOURCEi Search...

    Gene expression databases

    Bgeei O94993.
    CleanExi HS_SOX30.
    Genevestigatori O94993.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    [Graphical view ]
    Pfami PF00505. HMG_box. 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. "Identification of a novel Sry-related gene and its germ cell-specific expression."
      Osaki E., Nishina Y., Inazawa J., Copeland N.G., Gilbert D.J., Jenkins N.A., Ohsugi M., Tezuka T., Yoshida M., Semba K.
      Nucleic Acids Res. 27:2503-2510(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
      Tissue: Testis.
    2. "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] (ISOFORM 1), VARIANT LYS-429.
      Tissue: Brain.

    Entry informationi

    Entry nameiSOX30_HUMAN
    AccessioniPrimary (citable) accession number: O94993
    Secondary accession number(s): O94995, Q8IYX6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2002
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 120 of the entry and version 1 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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