SKOR1_HUMAN
ID SKOR1_HUMAN Reviewed; 965 AA.
AC P84550; A6NIP4; A6NJY0; Q2VWA5;
DT 21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 21-JUN-2005, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=SKI family transcriptional corepressor 1;
DE AltName: Full=Functional Smad-suppressing element on chromosome 15;
DE Short=Fussel-15;
DE AltName: Full=LBX1 corepressor 1;
DE AltName: Full=Ladybird homeobox corepressor 1;
GN Name=SKOR1; Synonyms=CORL1, FUSSEL15, LBXCOR1;
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, AND INTERACTION
RP WITH SMAD1; SMAD2 AND SMAD3.
RX PubMed=17292623; DOI=10.1016/j.mcn.2007.01.002;
RA Arndt S., Poser I., Moser M., Bosserhoff A.-K.;
RT "Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling.";
RL Mol. Cell. Neurosci. 34:603-611(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT GLN-73.
RX PubMed=27932480; DOI=10.1681/asn.2016040387;
RG NephroS;
RG UK study of Nephrotic Syndrome;
RA Bierzynska A., Soderquest K., Dean P., Colby E., Rollason R., Jones C.,
RA Inward C.D., McCarthy H.J., Simpson M.A., Lord G.M., Williams M.,
RA Welsh G.I., Koziell A.B., Saleem M.A.;
RT "MAGI2 mutations cause congenital nephrotic syndrome.";
RL J. Am. Soc. Nephrol. 28:1614-1621(2017).
CC -!- FUNCTION: Acts as a transcriptional corepressor of LBX1 (By
CC similarity). Inhibits BMP signaling. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with LBX1 (By similarity). Interacts with SMAD1,
CC SMAD2 and SMAD3. {ECO:0000250, ECO:0000269|PubMed:17292623}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P84550-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P84550-2; Sequence=VSP_033678, VSP_033679, VSP_033680,
CC VSP_033681;
CC Name=3;
CC IsoId=P84550-3; Sequence=VSP_040199, VSP_040200;
CC -!- TISSUE SPECIFICITY: Present specifically in cerebellar Purkinje cells
CC (at protein level). {ECO:0000269|PubMed:17292623}.
CC -!- SIMILARITY: Belongs to the SKI family. {ECO:0000255}.
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DR EMBL; AY669507; AAV74188.1; -; mRNA.
DR EMBL; AC009292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC168376; AAI68376.1; -; mRNA.
DR RefSeq; NP_001244953.1; NM_001258024.1.
DR RefSeq; XP_016877662.1; XM_017022173.1.
DR AlphaFoldDB; P84550; -.
DR SMR; P84550; -.
DR BioGRID; 133624; 13.
DR IntAct; P84550; 1.
DR MINT; P84550; -.
DR iPTMnet; P84550; -.
DR PhosphoSitePlus; P84550; -.
DR BioMuta; SKOR1; -.
DR DMDM; 68052265; -.
DR jPOST; P84550; -.
DR MassIVE; P84550; -.
DR PaxDb; P84550; -.
DR PeptideAtlas; P84550; -.
DR PRIDE; P84550; -.
DR ProteomicsDB; 57758; -. [P84550-1]
DR ProteomicsDB; 57759; -. [P84550-2]
DR ProteomicsDB; 57760; -. [P84550-3]
DR Antibodypedia; 50926; 27 antibodies from 12 providers.
DR DNASU; 390598; -.
DR Ensembl; ENST00000341418.10; ENSP00000343200.5; ENSG00000188779.12. [P84550-2]
DR Ensembl; ENST00000380035.3; ENSP00000369374.2; ENSG00000188779.12. [P84550-1]
DR MANE-Select; ENST00000380035.3; ENSP00000369374.2; NM_001365915.1; NP_001352844.1.
DR UCSC; uc031qsn.2; human. [P84550-1]
DR GeneCards; SKOR1; -.
DR HGNC; HGNC:21326; SKOR1.
DR HPA; ENSG00000188779; Tissue enriched (brain).
DR MIM; 611273; gene.
DR neXtProt; NX_P84550; -.
DR OpenTargets; ENSG00000188779; -.
DR PharmGKB; PA165479509; -.
DR VEuPathDB; HostDB:ENSG00000188779; -.
DR eggNOG; ENOG502QQC2; Eukaryota.
DR GeneTree; ENSGT00940000158440; -.
DR HOGENOM; CLU_011930_1_1_1; -.
DR InParanoid; P84550; -.
DR OMA; NFGMLQK; -.
DR OrthoDB; 1034068at2759; -.
DR PhylomeDB; P84550; -.
DR TreeFam; TF324133; -.
DR PathwayCommons; P84550; -.
DR SignaLink; P84550; -.
DR SIGNOR; P84550; -.
DR BioGRID-ORCS; 390598; 10 hits in 1072 CRISPR screens.
DR GenomeRNAi; 390598; -.
DR Pharos; P84550; Tbio.
DR PRO; PR:P84550; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P84550; protein.
DR Bgee; ENSG00000188779; Expressed in right hemisphere of cerebellum and 82 other tissues.
DR ExpressionAtlas; P84550; baseline and differential.
DR GO; GO:0030425; C:dendrite; IDA:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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; IDA:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
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; IPR037000; Ski_DNA-bd_sf.
DR InterPro; IPR028762; SKOR1.
DR InterPro; IPR023216; Tscrpt_reg_SKI_SnoN.
DR PANTHER; PTHR10005; PTHR10005; 1.
DR PANTHER; PTHR10005:SF8; PTHR10005:SF8; 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; Coiled coil; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..965
FT /note="SKI family transcriptional corepressor 1"
FT /id="PRO_0000129390"
FT REGION 45..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 278..367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 410..458
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 530..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 615..777
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 796..843
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 858..922
FT /evidence="ECO:0000255"
FT COMPBIAS 48..72
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 572..588
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 637..652
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 655..678
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 695..709
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 800..822
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 823..837
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..36
FT /note="MALLCGLGQVTLRIWVSLPSQSENGIGFLAARAFLR -> MIPKSLVQAAET
FT QRGLCEPGGKGREGRSGGKGETRPRGVGTQEGKGTIPGSPREKRGERGEGDPALLPAED
FT LWRLPGSKDRLRSSLLPPPGPPSSDSGPGPPSSHSGKTAQGPRTLNWARKQSARTSSNL
FT CAWSLAMATKMAEIPSSPYEPGQRGMKDTQRGDAPQRGSPEPRILQLARVGNVYLKEES
FT SRSGRLEAKKWIPTKFLENLSVPHVDLGGNQLW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17292623"
FT /id="VSP_033678"
FT VAR_SEQ 28..36
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040199"
FT VAR_SEQ 267..345
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17292623"
FT /id="VSP_033679"
FT VAR_SEQ 277..311
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040200"
FT VAR_SEQ 422..588
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17292623"
FT /id="VSP_033680"
FT VAR_SEQ 691..727
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17292623"
FT /id="VSP_033681"
FT VARIANT 73
FT /note="K -> Q (in dbSNP:rs776369126)"
FT /evidence="ECO:0000269|PubMed:27932480"
FT /id="VAR_079272"
FT VARIANT P84550-2:27
FT /note="R -> T"
FT /evidence="ECO:0000269|PubMed:27932480"
FT /id="VAR_082916"
SQ SEQUENCE 965 AA; 99831 MW; 313E95B0430A979B CRC64;
MALLCGLGQV TLRIWVSLPS QSENGIGFLA ARAFLRSGGM EALTTQLGPG REGSSSPNSK
QELQPYSGSS ALKPNQVGET SLYGVPIVSL VIDGQERLCL AQISNTLLKN YSYNEIHNRR
VALGITCVQC TPVQLEILRR AGAMPISSRR CGMITKREAE RLCKSFLGEH KPPKLPENFA
FDVVHECAWG SRGSFIPARY NSSRAKCIKC GYCSMYFSPN KFIFHSHRTP DAKYTQPDAA
NFNSWRRHLK LSDKSATDEL SHAWEDVKAM FNGGTRKRTF SLQGGGGGGA NGGSGGQGKG
GAGGGGGGGP GCGAEMAPGP PPHKSLRCGE DEAAGPPGPP PPHPQRGLGL ATGASGPAGP
GGPGGGAGVR SYPVIPVPSK GFGLLQKLPP PLFPHPYGFP TAFGLCPKKD DPVLGAGEPK
GGPGTGSGGG GAGTGGGAGG PGASHLPPGA GAGPGGGAMF WGHQPSGAAK DAAAVAAAAA
AATVYPTFPM FWPAAGSLPV PSYPAAQSQA KAVAAAVAAA AAAAAAAAGS GAPEPLDGAE
PAKESGLGAE ERCPSALSRG PLDEDGTDEA LPPPLAPLPP PPPPPARKGS YVSAFRPVVK
DTESIAKLYG SAREAYGAGP ARGPGPGAGS GGYVSPDFLS EGSSSYNSAS PDVDTADEPE
VDVESNRFPD DEDAQEETEP SAPSAGGGPD GEQPTGPPSA TSSGADGPAN SPDGGSPRPR
RRLGPPPAGR PAFGDLAAED LVRRPERSPP SGGGGYELRE PCGPLGGPAP AKVFAPERDE
HVKSAAVALG PAASYVCTPE AHEPDKEDNH SPADDLETRK SYPDQRSISQ PSPANTDRGE
DGLTLDVTGT HLVEKDIENL AREELQKLLL EQMELRKKLE REFQSLKDNF QDQMKRELAY
REEMVQQLQI VRDTLCNELD QERKARYAIQ QKLKEAHDAL HHFSCKMLTP RHCTGNCSFK
PPLLP
