P84550 (SKOR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SKOR1
Synonyms:	CORL1, FUSSEL15, LBXCOR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	965 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as a transcriptional corepressor of LBX1 By similarity. Inhibits BMP signaling. UniProtKB Q8BX46
Subunit structure	Interacts with LBX1 By similarity. Interacts with SMAD1, SMAD2 and SMAD3. Ref.1 UniProtKB Q8BX46
Subcellular location	Nucleus By similarity UniProtKB Q8BX46.
Tissue specificity	Present specifically in cerebellar Purkinje cells (at protein level). Ref.1
Sequence similarities	Belongs to the SKI family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of BMP signaling pathway Inferred from direct assay Ref.1. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from Biological aspect of Ancestor. Source: RefGenome negative regulation of transforming growth factor beta receptor signaling pathway Inferred from Biological aspect of Ancestor. Source: RefGenome transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome dendrite Inferred from direct assay Ref.1. Source: UniProtKB neuronal cell body Inferred from direct assay Ref.1. Source: UniProtKB nucleus Non-traceable author statement Ref.1. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	nucleotide binding Inferred from electronic annotation. Source: InterPro transcription corepressor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P84550-1)

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.

Isoform 2 (identifier: P84550-2)

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.

Isoform 3 (identifier: P84550-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 965	965	SKI family transcriptional corepressor 1		PRO_0000129390
Regions
	Coiled coil	858 – 922	65	Potential
Natural variations
	Alternative sequence	1 – 36	36	MALLC…RAFLR → MIPKSLVQAAETQRGLCEPG GKGREGRSGGKGETRPRGVG TQEGKGTIPGSPREKRGERG EGDPALLPAEDLWRLPGSKD RLRSSLLPPPGPPSSDSGPG PPSSHSGKTAQGPRTLNWAR KQSARTSSNLCAWSLAMATK MAEIPSSPYEPGQRGMKDTQ RGDAPQRGSPEPRILQLARV GNVYLKEESSRSGRLEAKKW IPTKFLENLSVPHVDLGGNQ LW in isoform 2.		VSP_033678
	Alternative sequence	28 – 36	9	Missing in isoform 3.		VSP_040199
	Alternative sequence	267 – 345	79	Missing in isoform 2.		VSP_033679
	Alternative sequence	277 – 311	35	Missing in isoform 3.		VSP_040200
	Alternative sequence	422 – 588	167	Missing in isoform 2.		VSP_033680
	Alternative sequence	691 – 727	37	Missing in isoform 2.		VSP_033681

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 21, 2005. Version 1. Checksum: 313E95B0430A979B	FASTA	965	99,831
	10 20 30 40 50 60 MALLCGLGQV TLRIWVSLPS QSENGIGFLA ARAFLRSGGM EALTTQLGPG REGSSSPNSK 70 80 90 100 110 120 QELQPYSGSS ALKPNQVGET SLYGVPIVSL VIDGQERLCL AQISNTLLKN YSYNEIHNRR 130 140 150 160 170 180 VALGITCVQC TPVQLEILRR AGAMPISSRR CGMITKREAE RLCKSFLGEH KPPKLPENFA 190 200 210 220 230 240 FDVVHECAWG SRGSFIPARY NSSRAKCIKC GYCSMYFSPN KFIFHSHRTP DAKYTQPDAA 250 260 270 280 290 300 NFNSWRRHLK LSDKSATDEL SHAWEDVKAM FNGGTRKRTF SLQGGGGGGA NGGSGGQGKG 310 320 330 340 350 360 GAGGGGGGGP GCGAEMAPGP PPHKSLRCGE DEAAGPPGPP PPHPQRGLGL ATGASGPAGP 370 380 390 400 410 420 GGPGGGAGVR SYPVIPVPSK GFGLLQKLPP PLFPHPYGFP TAFGLCPKKD DPVLGAGEPK 430 440 450 460 470 480 GGPGTGSGGG GAGTGGGAGG PGASHLPPGA GAGPGGGAMF WGHQPSGAAK DAAAVAAAAA 490 500 510 520 530 540 AATVYPTFPM FWPAAGSLPV PSYPAAQSQA KAVAAAVAAA AAAAAAAAGS GAPEPLDGAE 550 560 570 580 590 600 PAKESGLGAE ERCPSALSRG PLDEDGTDEA LPPPLAPLPP PPPPPARKGS YVSAFRPVVK 610 620 630 640 650 660 DTESIAKLYG SAREAYGAGP ARGPGPGAGS GGYVSPDFLS EGSSSYNSAS PDVDTADEPE 670 680 690 700 710 720 VDVESNRFPD DEDAQEETEP SAPSAGGGPD GEQPTGPPSA TSSGADGPAN SPDGGSPRPR 730 740 750 760 770 780 RRLGPPPAGR PAFGDLAAED LVRRPERSPP SGGGGYELRE PCGPLGGPAP AKVFAPERDE 790 800 810 820 830 840 HVKSAAVALG PAASYVCTPE AHEPDKEDNH SPADDLETRK SYPDQRSISQ PSPANTDRGE 850 860 870 880 890 900 DGLTLDVTGT HLVEKDIENL AREELQKLLL EQMELRKKLE REFQSLKDNF QDQMKRELAY 910 920 930 940 950 960 REEMVQQLQI VRDTLCNELD QERKARYAIQ QKLKEAHDAL HHFSCKMLTP RHCTGNCSFK PPLLP
	Isoform 2 [UniParc]. Checksum: A206B5ADFF8E8421	FASTA	868	93,779
	10 20 30 40 50 60 MIPKSLVQAA ETQRGLCEPG GKGREGRSGG KGETRPRGVG TQEGKGTIPG SPREKRGERG 70 80 90 100 110 120 EGDPALLPAE DLWRLPGSKD RLRSSLLPPP GPPSSDSGPG PPSSHSGKTA QGPRTLNWAR 130 140 150 160 170 180 KQSARTSSNL CAWSLAMATK MAEIPSSPYE PGQRGMKDTQ RGDAPQRGSP EPRILQLARV 190 200 210 220 230 240 GNVYLKEESS RSGRLEAKKW IPTKFLENLS VPHVDLGGNQ LWSGGMEALT TQLGPGREGS 250 260 270 280 290 300 SSPNSKQELQ PYSGSSALKP NQVGETSLYG VPIVSLVIDG QERLCLAQIS NTLLKNYSYN 310 320 330 340 350 360 EIHNRRVALG ITCVQCTPVQ LEILRRAGAM PISSRRCGMI TKREAERLCK SFLGEHKPPK 370 380 390 400 410 420 LPENFAFDVV HECAWGSRGS FIPARYNSSR AKCIKCGYCS MYFSPNKFIF HSHRTPDAKY 430 440 450 460 470 480 TQPDAANFNS WRRHLKLSDK SATDELSHAW EDRGLGLATG ASGPAGPGGP GGGAGVRSYP 490 500 510 520 530 540 VIPVPSKGFG LLQKLPPPLF PHPYGFPTAF GLCPKKDDPV LGAGEPKGGS YVSAFRPVVK 550 560 570 580 590 600 DTESIAKLYG SAREAYGAGP ARGPGPGAGS GGYVSPDFLS EGSSSYNSAS PDVDTADEPE 610 620 630 640 650 660 VDVESNRFPD DEDAQEETEP SAPSAGGGPD AGRPAFGDLA AEDLVRRPER SPPSGGGGYE 670 680 690 700 710 720 LREPCGPLGG PAPAKVFAPE RDEHVKSAAV ALGPAASYVC TPEAHEPDKE DNHSPADDLE 730 740 750 760 770 780 TRKSYPDQRS ISQPSPANTD RGEDGLTLDV TGTHLVEKDI ENLAREELQK LLLEQMELRK 790 800 810 820 830 840 KLEREFQSLK DNFQDQMKRE LAYREEMVQQ LQIVRDTLCN ELDQERKARY AIQQKLKEAH 850 860 DALHHFSCKM LTPRHCTGNC SFKPPLLP
	Isoform 3 [UniParc]. Checksum: 52DBF87B6324D49F	FASTA	921	96,028
	10 20 30 40 50 60 MALLCGLGQV TLRIWVSLPS QSENGIGSGG MEALTTQLGP GREGSSSPNS KQELQPYSGS 70 80 90 100 110 120 SALKPNQVGE TSLYGVPIVS LVIDGQERLC LAQISNTLLK NYSYNEIHNR RVALGITCVQ 130 140 150 160 170 180 CTPVQLEILR RAGAMPISSR RCGMITKREA ERLCKSFLGE HKPPKLPENF AFDVVHECAW 190 200 210 220 230 240 GSRGSFIPAR YNSSRAKCIK CGYCSMYFSP NKFIFHSHRT PDAKYTQPDA ANFNSWRRHL 250 260 270 280 290 300 KLSDKSATDE LSHAWEDVKA MFNGGTRCGA EMAPGPPPHK SLRCGEDEAA GPPGPPPPHP 310 320 330 340 350 360 QRGLGLATGA SGPAGPGGPG GGAGVRSYPV IPVPSKGFGL LQKLPPPLFP HPYGFPTAFG 370 380 390 400 410 420 LCPKKDDPVL GAGEPKGGPG TGSGGGGAGT GGGAGGPGAS HLPPGAGAGP GGGAMFWGHQ 430 440 450 460 470 480 PSGAAKDAAA VAAAAAAATV YPTFPMFWPA AGSLPVPSYP AAQSQAKAVA AAVAAAAAAA 490 500 510 520 530 540 AAAAGSGAPE PLDGAEPAKE SGLGAEERCP SALSRGPLDE DGTDEALPPP LAPLPPPPPP 550 560 570 580 590 600 PARKGSYVSA FRPVVKDTES IAKLYGSARE AYGAGPARGP GPGAGSGGYV SPDFLSEGSS 610 620 630 640 650 660 SYNSASPDVD TADEPEVDVE SNRFPDDEDA QEETEPSAPS AGGGPDGEQP TGPPSATSSG 670 680 690 700 710 720 ADGPANSPDG GSPRPRRRLG PPPAGRPAFG DLAAEDLVRR PERSPPSGGG GYELREPCGP 730 740 750 760 770 780 LGGPAPAKVF APERDEHVKS AAVALGPAAS YVCTPEAHEP DKEDNHSPAD DLETRKSYPD 790 800 810 820 830 840 QRSISQPSPA NTDRGEDGLT LDVTGTHLVE KDIENLAREE LQKLLLEQME LRKKLEREFQ 850 860 870 880 890 900 SLKDNFQDQM KRELAYREEM VQQLQIVRDT LCNELDQERK ARYAIQQKLK EAHDALHHFS 910 920 CKMLTPRHCT GNCSFKPPLL P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY669507 mRNA. Translation: AAV74188.1. AC009292 Genomic DNA. No translation available. BC168376 mRNA. Translation: AAI68376.1.
IPI	IPI00399411. IPI00657761. IPI00783918.
RefSeq	NP_001244953.1. NM_001258024.1.
UniGene	Hs.451224.
3D structure databases
ProteinModelPortal	P84550.
ModBase	Search...
PTM databases
PhosphoSite	P84550.
Polymorphism databases
DMDM	68052265.
Proteomic databases
PaxDb	P84550.
PRIDE	P84550.
Protocols and materials databases
DNASU	390598.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341418; ENSP00000343200; ENSG00000188779. ENST00000380035; ENSP00000369374; ENSG00000188779. ENST00000389002; ENSP00000373654; ENSG00000188779.
GeneID	390598.
KEGG	hsa:390598.
UCSC	uc002aqy.1. human.
Organism-specific databases
CTD	390598.
GeneCards	GC15P068113.
H-InvDB	HIX0038482.
HGNC	HGNC:21326. SKOR1.
HPA	HPA040673.
MIM	611273. gene.
neXtProt	NX_P84550.
PharmGKB	PA165479509.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG78967.
HOGENOM	HOG000293318.
HOVERGEN	HBG081893.
InParanoid	P84550.
OMA	LPSQSEN.
Gene expression databases
ArrayExpress	P84550.
Bgee	P84550.
CleanEx	HS_LBXCOR1.
Genevestigator	P84550.
Family and domain databases
Gene3D	3.10.260.20. 1 hit. 3.10.390.10. 1 hit.
InterPro	IPR014890. c-SKI_SMAD4-bd_dom. IPR009061. DNA-bd_dom_put. IPR010919. SAND_dom-like. IPR003380. Transform_Ski. IPR023216. Tscrpt_reg_SKI_SnoN. [Graphical view]
PANTHER	PTHR10005. PTHR10005. 1 hit.
Pfam	PF08782. c-SKI_SMAD_bind. 1 hit. PF02437. Ski_Sno. 1 hit. [Graphical view]
SMART	SM01046. c-SKI_SMAD_bind. 1 hit. [Graphical view]
SUPFAM	SSF46955. Putativ_DNA_bind. 1 hit. SSF63763. SAND_like. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	390598.
NextBio	103908.
SOURCE	Search...

Entry information

Entry name

SKOR1_HUMAN

Accession

Primary (citable) accession number: P84550
Secondary accession number(s): A6NIP4, A6NJY0, Q2VWA5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 21, 2005
Last sequence update:	June 21, 2005
Last modified:	May 1, 2013
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.