Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	390598
Gene name	SKI family transcriptional corepressor 1
Gene symbol	SKOR1
Synonyms (NCBI Gene)	CORL1FUSSEL15LBXCOR1
Chromosome	15
Chromosome location	15q23

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT710494	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT710493	hsa-miR-1293	HITS-CLIP	19536157
MIRT710492	hsa-miR-4483	HITS-CLIP	19536157
MIRT710491	hsa-miR-323a-5p	HITS-CLIP	19536157
MIRT710490	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT710489	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT710494	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT710493	hsa-miR-1293	HITS-CLIP	19536157
MIRT710492	hsa-miR-4483	HITS-CLIP	19536157
MIRT710491	hsa-miR-323a-5p	HITS-CLIP	19536157
MIRT710490	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT710489	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT710494	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT710493	hsa-miR-1293	HITS-CLIP	19536157
MIRT710492	hsa-miR-4483	HITS-CLIP	19536157
MIRT710491	hsa-miR-323a-5p	HITS-CLIP	19536157
MIRT710490	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT710489	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT710494	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT710493	hsa-miR-1293	HITS-CLIP	19536157
MIRT710492	hsa-miR-4483	HITS-CLIP	19536157
MIRT710491	hsa-miR-323a-5p	HITS-CLIP	19536157
MIRT710490	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT710489	hsa-miR-6848-3p	HITS-CLIP	19536157

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	17292623
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	17292623
GO:0030425	Component	Dendrite	IDA	17292623
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	17292623
GO:0043025	Component	Neuronal cell body	IDA	17292623
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	IEA
GO:0046332	Function	SMAD binding	IPI	17292623
GO:0090101	Process	Negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
611273	21326	ENSG00000188779

P84550

Protein name

SKI family transcriptional corepressor 1 (Functional Smad-suppressing element on chromosome 15) (Fussel-15) (LBX1 corepressor 1) (Ladybird homeobox corepressor 1)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02437	Ski_Sno	61 → 168	SKI/SNO/DAC family	Family
PF08782	c-SKI_SMAD_bind	180 → 271	c-SKI Smad4 binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Present specifically in cerebellar Purkinje cells (at protein level). {ECO:0000269|PubMed:17292623}.

Sequence

MALLCGLGQVTLRIWVSLPSQSENGIGFLAARAFLRSGGMEALTTQLGPGREGSSSPNSK
QELQPYSGSSALKPNQVGETSLYGVPIVSLVIDGQERLCLAQISNTLLKNYSYNEIHNRR
VALGITCVQCTPVQLEILRRAGAMPISSRRCGMITKREAERLCKSFLGEHKPPKLPENFA
FDVVHECAWGSRGSFIPARYNSSRAKCIKCGYCSMYFSPNKFIFHSHRTPDAKYTQPDAA
NFNSWRRHLKLSDKSATDELSHAWEDVKAMFNGGTRKRTFSLQGGGGGGANGGSGGQGKG
GAGGGGGGGPGCGAEMAPGPPPHKSLRCGEDEAAGPPGPPPPHPQRGLGLATGASGPAGP
GGPGGGAGVRSYPVIPVPSKGFGLLQKLPPPLFPHPYGFPTAFGLCPKKDDPVLGAGEPK
GGPGTGSGGGGAGTGGGAGGPGASHLPPGAGAGPGGGAMFWGHQPSGAAKDAAAVAAAAA
AATVYPTFPMFWPAAGSLPVPSYPAAQSQAKAVAAAVAAAAAAAAAAAGSGAPEPLDGAE
PAKESGLGAEERCPSALSRGPLDEDGTDEALPPPLAPLPPPPPPPARKGSYVSAFRPVVK
DTESIAKLYGSAREAYGAGPARGPGPGAGSGGYVSPDFLSEGSSSYNSASPDVDTADEPE
VDVESNRFPDDEDAQEETEPSAPSAGGGPDGEQPTGPPSATSSGADGPANSPDGGSPRPR
RRLGPPPAGRPAFGDLAAEDLVRRPERSPPSGGGGYELREPCGPLGGPAPAKVFAPERDE
HVKSAAVALGPAASYVCTPEAHEPDKEDNHSPADDLETRKSYPDQRSISQPSPANTDRGE
DGLTLDVTGTHLVEKDIENLAREELQKLLLEQMELRKKLEREFQSLKDNFQDQMKRELAY
REEMVQQLQIVRDTLCNELDQERKARYAIQQKLKEAHDALHHFSCKMLTPRHCTGNCSFK
PPLLP

Sequence length

965

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21572129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	19822783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21572129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	BEFREE	21641385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	21285061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26449484, 27421018, 29666371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	17637780, 18081164, 18541116, 19279021, 21572129, 21925394, 26498236, 28329290, 30111810		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	19279021, 21572129, 21925394, 25817513, 30111810, 32572201	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor	Tremor	Pubtator	25817513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SKOR1 (SKI family transcriptional corepressor 1)