SKOR1 SKI family transcriptional corepressor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SKOR1provided by HGNC
Official Full Name: SKI family transcriptional corepressor 1provided by HGNC
Primary source: HGNC:HGNC:21326
See related: Ensembl:ENSG00000188779 MIM:611273; AllianceGenome:HGNC:21326
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CORL1; LBXCOR1; FUSSEL15
Summary: Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 15q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (67825509..67834582)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (65647348..65656419)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (68117847..68126920)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.
Title: SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.
MAP2K5/SKOR1 may be associated with Chinese essential tremor patients.
Title: A haplotype of MAP2K5/SKOR1 was associated with essential tremor in Chinese population.
Permanent expression of Fussel-15 in keloid and skin sclerosis fibroblasts could be involved in the pathogenesis of these conditions.
Title: Fussel-15, a new player in wound healing, is deregulated in keloid and localized scleroderma.
a novel gene, fussel-15 (functional smad suppressing element on chromosome 15) with high homology to the recently discovered Fussel-18 protein.
Title: Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of intronic variants of the BTBD9 gene with Tourette syndrome.
MEIS1 and LBXCOR1 are developmental factors and raise new pathophysiologic questions for RLS.
Title: Genetics of restless legs syndrome.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: SKI family transcriptional corepressor 1

Names: LBX1 corepressor 1; Lbxcor1 homolog; corepressor for LBX1; functional Smad-suppressing element on chromosome 15; ladybird homeobox corepressor 1; transcriptional corepressor CORL1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001365915.1 → NP_001352844.1 SKI family transcriptional corepressor 1

Status: VALIDATED

Source sequence(s)

AC009292

Consensus CDS

CCDS92030.1

UniProtKB/Swiss-Prot

A6NIP4, A6NJY0, P84550, Q2VWA5

UniProtKB/TrEMBL

G3V3E1

Related

ENSP00000369374.2, ENST00000380035.3

Conserved Domains (4) summary

smart01046
Location:180 → 272

c-SKI_SMAD_bind; c-SKI Smad4 binding domain

pfam02437
Location:75 → 168

Ski_Sno; SKI/SNO/DAC family

pfam12474
Location:854 → 935

PKK; Polo kinase kinase

cl26386
Location:659 → 846

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

67825509..67834582

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

65647348..65656419

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001031807.1: Suppressed sequence

Description

NM_001031807.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001258024.1: Suppressed sequence

Description

NM_001258024.1: This RefSeq has been removed because there is insufficient support for the transcript and protein.