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Q2VWA4

- SKOR2_HUMAN

UniProt

Q2VWA4 - SKOR2_HUMAN

Protein

SKI family transcriptional corepressor 2

Gene

SKOR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 2 (20 May 2008)
      Previous versions | rss
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    Functioni

    Exhibits transcriptional repressor activity By similarity. Acts as a TGF-beta antagonist in the nervous system.By similarity1 Publication

    GO - Molecular functioni

    1. SMAD binding Source: UniProtKB
    2. transcription corepressor activity Source: UniProtKB

    GO - Biological processi

    1. cerebellar Purkinje cell differentiation Source: Ensembl
    2. negative regulation of BMP signaling pathway Source: Ensembl
    3. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
    4. negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    5. positive regulation of smoothened signaling pathway Source: Ensembl
    6. regulation of cerebellar granule cell precursor proliferation Source: Ensembl
    7. regulation of dendrite morphogenesis Source: Ensembl
    8. regulation of transcription, DNA-templated Source: UniProtKB
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SKI family transcriptional corepressor 2
    Alternative name(s):
    Functional Smad-suppressing element on chromosome 18
    Short name:
    Fussel-18
    LBX1 corepressor 1-like protein
    Ladybird homeobox corepressor 1-like protein
    Gene namesi
    Name:SKOR2
    Synonyms:CORL2, FUSSEL18
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:32695. SKOR2.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10011001SKI family transcriptional corepressor 2PRO_0000334611Add
    BLAST

    Proteomic databases

    PaxDbiQ2VWA4.
    PRIDEiQ2VWA4.

    PTM databases

    PhosphoSiteiQ2VWA4.

    Expressioni

    Tissue specificityi

    Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at protein level).1 Publication

    Gene expression databases

    BgeeiQ2VWA4.
    GenevestigatoriQ2VWA4.

    Organism-specific databases

    HPAiHPA046206.

    Interactioni

    Subunit structurei

    Interacts with SMAD2 and SMAD3.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000414750.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2VWA4.
    SMRiQ2VWA4. Positions 43-131, 147-236.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi261 – 448188Ala-richAdd
    BLAST
    Compositional biasi285 – 29410Pro-rich
    Compositional biasi343 – 616274Gly-richAdd
    BLAST
    Compositional biasi465 – 711247Pro-richAdd
    BLAST
    Compositional biasi603 – 66866His-richAdd
    BLAST
    Compositional biasi729 – 77446Glu-richAdd
    BLAST
    Compositional biasi834 – 8407Poly-Pro

    Sequence similaritiesi

    Belongs to the SKI family.Curated

    Phylogenomic databases

    eggNOGiNOG78967.
    HOVERGENiHBG107746.
    OMAiQKFPGCG.
    OrthoDBiEOG7R56SW.
    PhylomeDBiQ2VWA4.
    TreeFamiTF324133.

    Family and domain databases

    Gene3Di3.10.260.20. 1 hit.
    3.10.390.10. 1 hit.
    InterProiIPR014890. c-SKI_SMAD4-bd_dom.
    IPR009061. DNA-bd_dom_put.
    IPR010919. SAND_dom-like.
    IPR028376. SKI_corepress_2.
    IPR003380. Transform_Ski.
    IPR023216. Tscrpt_reg_SKI_SnoN.
    [Graphical view]
    PANTHERiPTHR10005. PTHR10005. 1 hit.
    PTHR10005:SF7. PTHR10005:SF7. 1 hit.
    PfamiPF08782. c-SKI_SMAD_bind. 1 hit.
    PF02437. Ski_Sno. 1 hit.
    [Graphical view]
    SMARTiSM01046. c-SKI_SMAD_bind. 1 hit.
    [Graphical view]
    SUPFAMiSSF46955. SSF46955. 1 hit.
    SSF63763. SSF63763. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2VWA4-1) [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

    MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP     50
    IVSLVIDGQE RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE 100
    ILRRAGAMPI SSRRCGMITK REAERLCKSF LGENRPPKLP DNFAFDVSHE 150
    CAWGCRGSFI PARYNSSRAK CIKCSYCNMY FSPNKFIFHS HRTPDAKYTQ 200
    PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR KRALPQPGAH 250
    PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG 300
    APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG 350
    GAGGGCVAGV GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG 400
    CGGLFPHPYT FPAAAAAFSL CHKKEDAGAA AEALGGAGAG GAGAAPKAGL 450
    SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP VPTYLQPPPQ PPSALGCALG 500
    ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP GSGPPPPAGG 550
    AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP 600
    APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA 650
    QTHPHHHHHP HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP 700
    PPPPPPLAQH PHHRGLLSPG GTSCCYPSED SSEDEDDEEE EQEVDVEGHK 750
    PPEGEEEEEG RDPDDDEEED EETEVLLGDP LVGGGRFLQG RGPSEKGSSR 800
    DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP LAPQKASGGG 850
    SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF 900
    FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI 950
    DLRRRLEQEF QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIVSCIS 1000
    T 1001
    Length:1,001
    Mass (Da):104,235
    Last modified:May 20, 2008 - v2
    Checksum:i0C546EAD63DDC132
    GO
    Isoform 2 (identifier: Q2VWA4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         259-296: VKAAAVAAAA...PPPPPPPPLA → IRTRSIAFSS...MRINEDNIWL
         297-1001: Missing.

    Show »
    Length:296
    Mass (Da):33,354
    Checksum:iA0BC0C875F42ACC0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti947 – 9471F → C.
    Corresponds to variant rs7235231 [ dbSNP | Ensembl ].
    VAR_043438

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei259 – 29638VKAAA…PPPLA → IRTRSIAFSSQTLMLLEEIF GEKDQEDYMRINEDNIWL in isoform 2. 1 PublicationVSP_033691Add
    BLAST
    Alternative sequencei297 – 1001705Missing in isoform 2. 1 PublicationVSP_033692Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY669508 mRNA. Translation: AAV74189.1.
    AC051635 Genomic DNA. No translation available.
    CCDSiCCDS62441.1. [Q2VWA4-2]
    RefSeqiNP_001032891.1. NM_001037802.1. [Q2VWA4-2]
    UniGeneiHs.585834.

    Genome annotation databases

    EnsembliENST00000400404; ENSP00000383255; ENSG00000215474. [Q2VWA4-2]
    ENST00000425639; ENSP00000414750; ENSG00000215474. [Q2VWA4-1]
    GeneIDi652991.
    KEGGihsa:652991.
    UCSCiuc010dnt.2. human. [Q2VWA4-2]
    uc031rif.1. human. [Q2VWA4-1]

    Polymorphism databases

    DMDMi189082904.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY669508 mRNA. Translation: AAV74189.1 .
    AC051635 Genomic DNA. No translation available.
    CCDSi CCDS62441.1. [Q2VWA4-2 ]
    RefSeqi NP_001032891.1. NM_001037802.1. [Q2VWA4-2 ]
    UniGenei Hs.585834.

    3D structure databases

    ProteinModelPortali Q2VWA4.
    SMRi Q2VWA4. Positions 43-131, 147-236.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000414750.

    PTM databases

    PhosphoSitei Q2VWA4.

    Polymorphism databases

    DMDMi 189082904.

    Proteomic databases

    PaxDbi Q2VWA4.
    PRIDEi Q2VWA4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000400404 ; ENSP00000383255 ; ENSG00000215474 . [Q2VWA4-2 ]
    ENST00000425639 ; ENSP00000414750 ; ENSG00000215474 . [Q2VWA4-1 ]
    GeneIDi 652991.
    KEGGi hsa:652991.
    UCSCi uc010dnt.2. human. [Q2VWA4-2 ]
    uc031rif.1. human. [Q2VWA4-1 ]

    Organism-specific databases

    CTDi 652991.
    GeneCardsi GC18M044729.
    H-InvDB HIX0059797.
    HGNCi HGNC:32695. SKOR2.
    HPAi HPA046206.
    neXtProti NX_Q2VWA4.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78967.
    HOVERGENi HBG107746.
    OMAi QKFPGCG.
    OrthoDBi EOG7R56SW.
    PhylomeDBi Q2VWA4.
    TreeFami TF324133.

    Miscellaneous databases

    PROi Q2VWA4.

    Gene expression databases

    Bgeei Q2VWA4.
    Genevestigatori Q2VWA4.

    Family and domain databases

    Gene3Di 3.10.260.20. 1 hit.
    3.10.390.10. 1 hit.
    InterProi IPR014890. c-SKI_SMAD4-bd_dom.
    IPR009061. DNA-bd_dom_put.
    IPR010919. SAND_dom-like.
    IPR028376. SKI_corepress_2.
    IPR003380. Transform_Ski.
    IPR023216. Tscrpt_reg_SKI_SnoN.
    [Graphical view ]
    PANTHERi PTHR10005. PTHR10005. 1 hit.
    PTHR10005:SF7. PTHR10005:SF7. 1 hit.
    Pfami PF08782. c-SKI_SMAD_bind. 1 hit.
    PF02437. Ski_Sno. 1 hit.
    [Graphical view ]
    SMARTi SM01046. c-SKI_SMAD_bind. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46955. SSF46955. 1 hit.
    SSF63763. SSF63763. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional characterization of a new Ski homolog, Fussel-18, specifically expressed in neuronal tissues."
      Arndt S., Poser I., Schubert T., Moser M., Bosserhoff A.-K.
      Lab. Invest. 85:1330-1341(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH SMAD2 AND SMAD3, FUNCTION.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiSKOR2_HUMAN
    AccessioniPrimary (citable) accession number: Q2VWA4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: May 20, 2008
    Last modified: October 1, 2014
    This is version 83 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3