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P84550

- SKOR1_HUMAN

UniProt

P84550 - SKOR1_HUMAN

Protein

SKI family transcriptional corepressor 1

Gene

SKOR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (21 Jun 2005)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional corepressor of LBX1 By similarity. Inhibits BMP signaling.By similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. negative regulation of BMP signaling pathway Source: UniProtKB
    2. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
    3. negative regulation of transforming growth factor beta receptor signaling pathway Source: RefGenome
    4. regulation of transcription, DNA-templated Source: UniProtKB
    5. 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 1
    Alternative name(s):
    Functional Smad-suppressing element on chromosome 15
    Short name:
    Fussel-15
    LBX1 corepressor 1
    Ladybird homeobox corepressor 1
    Gene namesi
    Name:SKOR1
    Synonyms:CORL1, FUSSEL15, LBXCOR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:21326. SKOR1.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. cytoplasm Source: RefGenome
    2. dendrite Source: UniProtKB
    3. neuronal cell body Source: UniProtKB
    4. nucleus Source: UniProtKB
    5. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165479509.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 965965SKI family transcriptional corepressor 1PRO_0000129390Add
    BLAST

    Proteomic databases

    PaxDbiP84550.
    PRIDEiP84550.

    PTM databases

    PhosphoSiteiP84550.

    Expressioni

    Tissue specificityi

    Present specifically in cerebellar Purkinje cells (at protein level).1 Publication

    Gene expression databases

    BgeeiP84550.
    CleanExiHS_LBXCOR1.
    GenevestigatoriP84550.

    Organism-specific databases

    HPAiHPA040673.

    Interactioni

    Subunit structurei

    Interacts with LBX1 By similarity. Interacts with SMAD1, SMAD2 and SMAD3.By similarity1 Publication

    Structurei

    3D structure databases

    ProteinModelPortaliP84550.
    SMRiP84550. Positions 79-167, 183-272.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili858 – 92265Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SKI family.Sequence Analysis

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG78967.
    HOGENOMiHOG000293318.
    HOVERGENiHBG081893.
    InParanoidiP84550.
    OMAiNRFPDEE.
    OrthoDBiEOG7R56SW.
    PhylomeDBiP84550.
    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.
    IPR028762. SKOR1.
    IPR003380. Transform_Ski.
    IPR023216. Tscrpt_reg_SKI_SnoN.
    [Graphical view]
    PANTHERiPTHR10005. PTHR10005. 1 hit.
    PTHR10005:SF8. PTHR10005:SF8. 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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P84550-1) [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

    MALLCGLGQV TLRIWVSLPS QSENGIGFLA ARAFLRSGGM EALTTQLGPG    50
    REGSSSPNSK QELQPYSGSS ALKPNQVGET SLYGVPIVSL VIDGQERLCL 100
    AQISNTLLKN YSYNEIHNRR VALGITCVQC TPVQLEILRR AGAMPISSRR 150
    CGMITKREAE RLCKSFLGEH KPPKLPENFA FDVVHECAWG SRGSFIPARY 200
    NSSRAKCIKC GYCSMYFSPN KFIFHSHRTP DAKYTQPDAA NFNSWRRHLK 250
    LSDKSATDEL SHAWEDVKAM FNGGTRKRTF SLQGGGGGGA NGGSGGQGKG 300
    GAGGGGGGGP GCGAEMAPGP PPHKSLRCGE DEAAGPPGPP PPHPQRGLGL 350
    ATGASGPAGP GGPGGGAGVR SYPVIPVPSK GFGLLQKLPP PLFPHPYGFP 400
    TAFGLCPKKD DPVLGAGEPK GGPGTGSGGG GAGTGGGAGG PGASHLPPGA 450
    GAGPGGGAMF WGHQPSGAAK DAAAVAAAAA AATVYPTFPM FWPAAGSLPV 500
    PSYPAAQSQA KAVAAAVAAA AAAAAAAAGS GAPEPLDGAE PAKESGLGAE 550
    ERCPSALSRG PLDEDGTDEA LPPPLAPLPP PPPPPARKGS YVSAFRPVVK 600
    DTESIAKLYG SAREAYGAGP ARGPGPGAGS GGYVSPDFLS EGSSSYNSAS 650
    PDVDTADEPE VDVESNRFPD DEDAQEETEP SAPSAGGGPD GEQPTGPPSA 700
    TSSGADGPAN SPDGGSPRPR RRLGPPPAGR PAFGDLAAED LVRRPERSPP 750
    SGGGGYELRE PCGPLGGPAP AKVFAPERDE HVKSAAVALG PAASYVCTPE 800
    AHEPDKEDNH SPADDLETRK SYPDQRSISQ PSPANTDRGE DGLTLDVTGT 850
    HLVEKDIENL AREELQKLLL EQMELRKKLE REFQSLKDNF QDQMKRELAY 900
    REEMVQQLQI VRDTLCNELD QERKARYAIQ QKLKEAHDAL HHFSCKMLTP 950
    RHCTGNCSFK PPLLP 965
    Length:965
    Mass (Da):99,831
    Last modified:June 21, 2005 - v1
    Checksum:i313E95B0430A979B
    GO
    Isoform 2 (identifier: P84550-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-36: MALLCGLGQV...GFLAARAFLR → MIPKSLVQAA...HVDLGGNQLW
         267-345: Missing.
         422-588: Missing.
         691-727: Missing.

    Show »
    Length:868
    Mass (Da):93,779
    Checksum:iA206B5ADFF8E8421
    GO
    Isoform 3 (identifier: P84550-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         28-36: Missing.
         277-311: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:921
    Mass (Da):96,028
    Checksum:i52DBF87B6324D49F
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3636MALLC…RAFLR → MIPKSLVQAAETQRGLCEPG GKGREGRSGGKGETRPRGVG TQEGKGTIPGSPREKRGERG EGDPALLPAEDLWRLPGSKD RLRSSLLPPPGPPSSDSGPG PPSSHSGKTAQGPRTLNWAR KQSARTSSNLCAWSLAMATK MAEIPSSPYEPGQRGMKDTQ RGDAPQRGSPEPRILQLARV GNVYLKEESSRSGRLEAKKW IPTKFLENLSVPHVDLGGNQ LW in isoform 2. 1 PublicationVSP_033678Add
    BLAST
    Alternative sequencei28 – 369Missing in isoform 3. 1 PublicationVSP_040199
    Alternative sequencei267 – 34579Missing in isoform 2. 1 PublicationVSP_033679Add
    BLAST
    Alternative sequencei277 – 31135Missing in isoform 3. 1 PublicationVSP_040200Add
    BLAST
    Alternative sequencei422 – 588167Missing in isoform 2. 1 PublicationVSP_033680Add
    BLAST
    Alternative sequencei691 – 72737Missing in isoform 2. 1 PublicationVSP_033681Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY669507 mRNA. Translation: AAV74188.1.
    AC009292 Genomic DNA. No translation available.
    BC168376 mRNA. Translation: AAI68376.1.
    CCDSiCCDS58374.1. [P84550-2]
    RefSeqiNP_001244953.1. NM_001258024.1. [P84550-2]
    UniGeneiHs.451224.

    Genome annotation databases

    EnsembliENST00000341418; ENSP00000343200; ENSG00000188779. [P84550-2]
    ENST00000380035; ENSP00000369374; ENSG00000188779. [P84550-1]
    GeneIDi390598.
    KEGGihsa:390598.
    UCSCiuc031qsn.1. human. [P84550-2]

    Polymorphism databases

    DMDMi68052265.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY669507 mRNA. Translation: AAV74188.1 .
    AC009292 Genomic DNA. No translation available.
    BC168376 mRNA. Translation: AAI68376.1 .
    CCDSi CCDS58374.1. [P84550-2 ]
    RefSeqi NP_001244953.1. NM_001258024.1. [P84550-2 ]
    UniGenei Hs.451224.

    3D structure databases

    ProteinModelPortali P84550.
    SMRi P84550. Positions 79-167, 183-272.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei P84550.

    Polymorphism databases

    DMDMi 68052265.

    Proteomic databases

    PaxDbi P84550.
    PRIDEi P84550.

    Protocols and materials databases

    DNASUi 390598.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341418 ; ENSP00000343200 ; ENSG00000188779 . [P84550-2 ]
    ENST00000380035 ; ENSP00000369374 ; ENSG00000188779 . [P84550-1 ]
    GeneIDi 390598.
    KEGGi hsa:390598.
    UCSCi uc031qsn.1. human. [P84550-2 ]

    Organism-specific databases

    CTDi 390598.
    GeneCardsi GC15P068113.
    H-InvDB HIX0038482.
    HGNCi HGNC:21326. SKOR1.
    HPAi HPA040673.
    MIMi 611273. gene.
    neXtProti NX_P84550.
    PharmGKBi PA165479509.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78967.
    HOGENOMi HOG000293318.
    HOVERGENi HBG081893.
    InParanoidi P84550.
    OMAi NRFPDEE.
    OrthoDBi EOG7R56SW.
    PhylomeDBi P84550.
    TreeFami TF324133.

    Miscellaneous databases

    GenomeRNAii 390598.
    NextBioi 103908.
    PROi P84550.
    SOURCEi Search...

    Gene expression databases

    Bgeei P84550.
    CleanExi HS_LBXCOR1.
    Genevestigatori P84550.

    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.
    IPR028762. SKOR1.
    IPR003380. Transform_Ski.
    IPR023216. Tscrpt_reg_SKI_SnoN.
    [Graphical view ]
    PANTHERi PTHR10005. PTHR10005. 1 hit.
    PTHR10005:SF8. PTHR10005:SF8. 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. "Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling."
      Arndt S., Poser I., Moser M., Bosserhoff A.-K.
      Mol. Cell. Neurosci. 34:603-611(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INTERACTION WITH SMAD1; SMAD2 AND SMAD3.
    2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 3).

    Entry informationi

    Entry nameiSKOR1_HUMAN
    AccessioniPrimary (citable) accession number: P84550
    Secondary accession number(s): A6NIP4, A6NJY0, Q2VWA5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 21, 2005
    Last sequence update: June 21, 2005
    Last modified: October 1, 2014
    This is version 85 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 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3