SKOR2_HUMAN
ID SKOR2_HUMAN Reviewed; 1015 AA.
AC Q2VWA4; A0A087X0E6;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-SEP-2021, sequence version 3.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=SKI family transcriptional corepressor 2 {ECO:0000305};
DE AltName: Full=Functional Smad-suppressing element on chromosome 18;
DE Short=Fussel-18;
DE AltName: Full=LBX1 corepressor 1-like protein;
DE AltName: Full=Ladybird homeobox corepressor 1-like protein;
GN Name=SKOR2 {ECO:0000312|HGNC:HGNC:32695}; Synonyms=CORL2, FUSSEL18;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, INTERACTION WITH SMAD2 AND SMAD3, AND FUNCTION.
RX PubMed=16200078; DOI=10.1038/labinvest.3700344;
RA Arndt S., Poser I., Schubert T., Moser M., Bosserhoff A.-K.;
RT "Cloning and functional characterization of a new Ski homolog, Fussel-18,
RT specifically expressed in neuronal tissues.";
RL Lab. Invest. 85:1330-1341(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
CC -!- FUNCTION: Exhibits transcriptional repressor activity (By similarity).
CC Acts as a TGF-beta antagonist in the nervous system. {ECO:0000250,
CC ECO:0000269|PubMed:16200078}.
CC -!- SUBUNIT: Interacts with SMAD2 and SMAD3. {ECO:0000269|PubMed:16200078}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16200078}. Cytoplasm
CC {ECO:0000269|PubMed:16200078}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2VWA4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2VWA4-2; Sequence=VSP_033691, VSP_033692;
CC -!- TISSUE SPECIFICITY: Expressed in cerebellum, spinal cord and testis.
CC Isoform 2 is present in cerebellum (at protein level).
CC {ECO:0000269|PubMed:16200078}.
CC -!- SIMILARITY: Belongs to the SKI family. {ECO:0000305}.
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DR EMBL; AY669508; AAV74189.1; -; mRNA.
DR EMBL; AC051635; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS62441.1; -. [Q2VWA4-2]
DR CCDS; CCDS74222.1; -. [Q2VWA4-1]
DR RefSeq; NP_001032891.1; NM_001037802.1. [Q2VWA4-2]
DR AlphaFoldDB; Q2VWA4; -.
DR SMR; Q2VWA4; -.
DR STRING; 9606.ENSP00000483333; -.
DR iPTMnet; Q2VWA4; -.
DR PhosphoSitePlus; Q2VWA4; -.
DR BioMuta; SKOR2; -.
DR DMDM; 189082904; -.
DR MassIVE; Q2VWA4; -.
DR PaxDb; Q2VWA4; -.
DR PeptideAtlas; Q2VWA4; -.
DR PRIDE; Q2VWA4; -.
DR ProteomicsDB; 61524; -. [Q2VWA4-1]
DR ProteomicsDB; 61525; -. [Q2VWA4-2]
DR Antibodypedia; 58871; 72 antibodies from 15 providers.
DR DNASU; 652991; -.
DR Ensembl; ENST00000400404.1; ENSP00000383255.1; ENSG00000215474.8. [Q2VWA4-2]
DR Ensembl; ENST00000425639.3; ENSP00000414750.3; ENSG00000215474.8. [Q2VWA4-1]
DR Ensembl; ENST00000620245.4; ENSP00000483333.1; ENSG00000215474.8. [Q2VWA4-1]
DR GeneID; 652991; -.
DR KEGG; hsa:652991; -.
DR MANE-Select; ENST00000425639.3; ENSP00000414750.3; NM_001278063.4; NP_001264992.1.
DR UCSC; uc010dnt.2; human. [Q2VWA4-1]
DR UCSC; uc031rif.1; human.
DR CTD; 652991; -.
DR DisGeNET; 652991; -.
DR GeneCards; SKOR2; -.
DR HGNC; HGNC:32695; SKOR2.
DR HPA; ENSG00000215474; Tissue enhanced (brain).
DR MIM; 617138; gene.
DR neXtProt; NX_Q2VWA4; -.
DR OpenTargets; ENSG00000215474; -.
DR VEuPathDB; HostDB:ENSG00000215474; -.
DR eggNOG; ENOG502QQC2; Eukaryota.
DR GeneTree; ENSGT00940000160474; -.
DR HOGENOM; CLU_011930_1_0_1; -.
DR InParanoid; Q2VWA4; -.
DR OMA; QLQIVRC; -.
DR OrthoDB; 1034068at2759; -.
DR PhylomeDB; Q2VWA4; -.
DR TreeFam; TF324133; -.
DR PathwayCommons; Q2VWA4; -.
DR SignaLink; Q2VWA4; -.
DR BioGRID-ORCS; 652991; 2 hits in 952 CRISPR screens.
DR ChiTaRS; SKOR2; human.
DR GenomeRNAi; 652991; -.
DR Pharos; Q2VWA4; Tbio.
DR PRO; PR:Q2VWA4; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q2VWA4; protein.
DR Bgee; ENSG00000215474; Expressed in sural nerve and 14 other tissues.
DR ExpressionAtlas; Q2VWA4; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0046332; F:SMAD binding; IPI:UniProtKB.
DR GO; GO:0030514; P:negative regulation of BMP signaling pathway; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IDA:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB.
DR Gene3D; 3.10.260.20; -; 1.
DR Gene3D; 3.10.390.10; -; 1.
DR InterPro; IPR014890; c-SKI_SMAD4-bd_dom.
DR InterPro; IPR009061; DNA-bd_dom_put_sf.
DR InterPro; IPR010919; SAND-like_dom_sf.
DR InterPro; IPR003380; SKI/SNO/DAC.
DR InterPro; IPR028376; SKI_corepress_2.
DR InterPro; IPR037000; Ski_DNA-bd_sf.
DR InterPro; IPR023216; Tscrpt_reg_SKI_SnoN.
DR PANTHER; PTHR10005; PTHR10005; 1.
DR PANTHER; PTHR10005:SF7; PTHR10005:SF7; 1.
DR Pfam; PF08782; c-SKI_SMAD_bind; 1.
DR Pfam; PF02437; Ski_Sno; 1.
DR SMART; SM01046; c-SKI_SMAD_bind; 1.
DR SUPFAM; SSF46955; SSF46955; 1.
DR SUPFAM; SSF63763; SSF63763; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..1015
FT /note="SKI family transcriptional corepressor 2"
FT /id="PRO_0000334611"
FT REGION 280..316
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 518..934
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 281..298
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 301..316
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 526..547
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 651..670
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 692..710
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 729..744
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 757..776
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 830..844
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 873..888
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 909..934
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 259..296
FT /note="VKAAAVAAAAAVAGGGGLLGPHLLGAPPPPPPPPPPLA -> IRTRSIAFSS
FT QTLMLLEEIFGEKDQEDYMRINEDNIWL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16200078"
FT /id="VSP_033691"
FT VAR_SEQ 297..1015
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16200078"
FT /id="VSP_033692"
FT VARIANT 947
FT /note="F -> C (in dbSNP:rs7235231)"
FT /id="VAR_043438"
SQ SEQUENCE 1015 AA; 105809 MW; 2EB8178A06F5D38B CRC64;
MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP IVSLVIDGQE
RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE ILRRAGAMPI SSRRCGMITK
REAERLCKSF LGENRPPKLP DNFAFDVSHE CAWGCRGSFI PARYNSSRAK CIKCSYCNMY
FSPNKFIFHS HRTPDAKYTQ PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR
KRALPQPGAH PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG
APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG GAGGGCVAGV
GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG CGGLFPHPYT FPAAAAAFSL
CHKKEDAGAA AEALGGAGAG GAGAAPKAGL SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP
VPTYLQPPPQ PPSALGCALG ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP
GSGPPPPAGG AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP
APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA QTHPHHHHHP
HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP PPPPPPLAQH PHHRGLLSPG
GTSCCYPSED SSEDEDDEEE EQEVDVEGHK PPEGEEEEEG RDPDDDEEED EETEVLLGDP
LVGGGRFLQG RGPSEKGSSR DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP
LAPQKASGGG SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF
FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI DLRRRLEQEF
QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIIPYAA SLIRKEKLGA HLSKS
