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Aliases for SKOR1 Gene

Aliases for SKOR1 Gene

  • SKI Family Transcriptional Corepressor 1 2 3 5
  • Functional Smad-Suppressing Element On Chromosome 15 3 4
  • Functional Smad Suppressing Element 15 2 3
  • Transcriptional Corepressor CORL1 2 3
  • Ladybird Homeobox Corepressor 1 3 4
  • Corepressor For LBX1 2 3
  • LBX1 Corepressor 1 3 4
  • Fussel-15 3 4
  • FUSSEL15 3 4
  • LBXCOR1 3 4
  • CORL1 3 4
  • Lbxcor1 Homolog (Mouse) 2
  • Lbxcor1 Homolog 3

External Ids for SKOR1 Gene

Previous HGNC Symbols for SKOR1 Gene

  • LBXCOR1

Previous GeneCards Identifiers for SKOR1 Gene

  • GC15P068113
  • GC15P044951

Summaries for SKOR1 Gene

GeneCards Summary for SKOR1 Gene

SKOR1 (SKI Family Transcriptional Corepressor 1) is a Protein Coding gene. Diseases associated with SKOR1 include Restless Legs Syndrome. Gene Ontology (GO) annotations related to this gene include transcription corepressor activity and SMAD binding. An important paralog of this gene is SKOR2.

UniProtKB/Swiss-Prot for SKOR1 Gene

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

Additional gene information for SKOR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SKOR1 Gene

Genomics for SKOR1 Gene

GeneHancer (GH) Regulatory Elements for SKOR1 Gene

Promoters and enhancers for SKOR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I068275 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 45.6 +459.7 459707 8.8 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ENSG00000260657 FEM1B SKOR1 IQCH-AS1 PIAS1 CORO2B MAP2K5 SPESP1 NOX5 GC15M068298
GH15I068815 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.6 +999.5 999482 7.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SPESP1 GC15P069450 ANP32A SKOR1
GH15I067060 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 27.6 -753.6 -753551 11 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF263 SP3 SMAD3 PIR44207 LOC102723493 ENSG00000260773 SKOR1 MAP2K5 IQCH-AS1 PIAS1 RPL4 IQCH
GH15I067838 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE 28.8 +20.4 20397 3.3 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 LOC101929076 RNU6-1 GC15M067840 SKOR1 MAP2K5 IQCH-AS1 FEM1B PIAS1 CALML4 ENSG00000259410
GH15I067880 Enhancer 1.5 FANTOM5 Ensembl ENCODE 22.3 +63.6 63558 5.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT SIN3A FEZF1 DMAP1 SKOR1 PIAS1 IQCH-AS1 RNU6-1 LOC101929076 MAP2K5 CALML4 FEM1B GC15M067840 GC15M067974
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SKOR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SKOR1 Gene

Genomic Locations for SKOR1 Gene
chr15:67,819,704-67,834,561
(GRCh38/hg38)
Size:
14,858 bases
Orientation:
Plus strand
chr15:68,112,042-68,126,899
(GRCh37/hg19)

Genomic View for SKOR1 Gene

Genes around SKOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKOR1 Gene

Proteins for SKOR1 Gene

  • Protein details for SKOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P84550-SKOR1_HUMAN
    Recommended name:
    SKI family transcriptional corepressor 1
    Protein Accession:
    P84550
    Secondary Accessions:
    • A6NIP4
    • A6NJY0
    • Q2VWA5

    Protein attributes for SKOR1 Gene

    Size:
    965 amino acids
    Molecular mass:
    99831 Da
    Quaternary structure:
    • Interacts with LBX1 (By similarity). Interacts with SMAD1, SMAD2 and SMAD3.

    Alternative splice isoforms for SKOR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SKOR1 Gene

Post-translational modifications for SKOR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SKOR1 Gene

No data available for DME Specific Peptides for SKOR1 Gene

Domains & Families for SKOR1 Gene

Gene Families for SKOR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SKOR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P84550

UniProtKB/Swiss-Prot:

SKOR1_HUMAN :
  • Belongs to the SKI family.
Family:
  • Belongs to the SKI family.
genes like me logo Genes that share domains with SKOR1: view

Function for SKOR1 Gene

Molecular function for SKOR1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling.

Phenotypes From GWAS Catalog for SKOR1 Gene

Gene Ontology (GO) - Molecular Function for SKOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA --
GO:0046332 SMAD binding IPI 17292623
genes like me logo Genes that share ontologies with SKOR1: view

Phenotypes for SKOR1 Gene

genes like me logo Genes that share phenotypes with SKOR1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SKOR1 Gene

Localization for SKOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKOR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SKOR1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SKOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 17292623
GO:0005667 transcription factor complex IEA --
GO:0030425 dendrite IDA 17292623
GO:0043025 neuronal cell body IDA 17292623
genes like me logo Genes that share ontologies with SKOR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SKOR1 Gene

Pathways & Interactions for SKOR1 Gene

SuperPathways for SKOR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SKOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 17292623
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IBA --
GO:0030514 negative regulation of BMP signaling pathway IDA 17292623
GO:0045596 negative regulation of cell differentiation IBA --
genes like me logo Genes that share ontologies with SKOR1: view

No data available for Pathways by source and SIGNOR curated interactions for SKOR1 Gene

Drugs & Compounds for SKOR1 Gene

No Compound Related Data Available

Transcripts for SKOR1 Gene

mRNA/cDNA for SKOR1 Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SKOR1 Gene

SKI family transcriptional corepressor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SKOR1 Gene

No ASD Table

Relevant External Links for SKOR1 Gene

GeneLoc Exon Structure for
SKOR1
ECgene alternative splicing isoforms for
SKOR1

Expression for SKOR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SKOR1 Gene

mRNA differential expression in normal tissues according to GTEx for SKOR1 Gene

This gene is overexpressed in Brain - Cerebellum (x7.4) and Brain - Cerebellar Hemisphere (x5.2).

Protein differential expression in normal tissues from HIPED for SKOR1 Gene

This gene is overexpressed in Liver (50.6) and Heart (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SKOR1 Gene



Protein tissue co-expression partners for SKOR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SKOR1 Gene:

SKOR1

SOURCE GeneReport for Unigene cluster for SKOR1 Gene:

Hs.451224

mRNA Expression by UniProt/SwissProt for SKOR1 Gene:

P84550-SKOR1_HUMAN
Tissue specificity: Present specifically in cerebellar Purkinje cells (at protein level).
genes like me logo Genes that share expression patterns with SKOR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SKOR1 Gene

Orthologs for SKOR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SKOR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SKOR1 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia SKOR1 33 34
  • 92.7 (n)
oppossum
(Monodelphis domestica)
Mammalia SKOR1 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SKOR1 33 34
  • 84.32 (n)
mouse
(Mus musculus)
Mammalia Skor1 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SKOR1 34
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 15 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia skor1 33
  • 71.67 (n)
Str.13154 33
zebrafish
(Danio rerio)
Actinopterygii skor1a 34
  • 54 (a)
OneToMany
skor1b 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11093 34
  • 28 (a)
OneToMany
Species where no ortholog for SKOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SKOR1 Gene

ENSEMBL:
Gene Tree for SKOR1 (if available)
TreeFam:
Gene Tree for SKOR1 (if available)

Paralogs for SKOR1 Gene

Paralogs for SKOR1 Gene

(1) SIMAP similar genes for SKOR1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SKOR1: view

Variants for SKOR1 Gene

Sequence variations from dbSNP and Humsavar for SKOR1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000253195 -- 67,819,410(+) G/A/T upstream_transcript_variant
rs1000520570 -- 67,824,104(+) CGAGAAACCGAGAA/CGAGAA genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000585256 -- 67,825,355(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001078886 -- 67,831,095(+) A/G intron_variant
rs1001079378 -- 67,829,979(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SKOR1 Gene

Variant ID Type Subtype PubMed ID
nsv1041463 CNV gain 25217958
nsv1578 CNV insertion 18451855
nsv569803 CNV gain 21841781
nsv827375 CNV gain 20364138

Variation tolerance for SKOR1 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SKOR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SKOR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKOR1 Gene

Disorders for SKOR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SKOR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
restless legs syndrome
  • ekbom syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SKOR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SKOR1

genes like me logo Genes that share disorders with SKOR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SKOR1 Gene

Publications for SKOR1 Gene

  1. Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1. (PMID: 15528197) Mizuhara E … Ono Y (The Journal of biological chemistry 2005) 2 3 22 58
  2. Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling. (PMID: 17292623) Arndt S … Bosserhoff AK (Molecular and cellular neurosciences 2007) 3 4 58
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4 58
  4. MAGI2 Mutations Cause Congenital Nephrotic Syndrome. (PMID: 27932480) Bierzynska A … UK study of Nephrotic Syndrome (Journal of the American Society of Nephrology : JASN 2017) 4 58
  5. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. (PMID: 21779176) Winkelmann J … Meitinger T (PLoS genetics 2011) 3 58

Products for SKOR1 Gene

Sources for SKOR1 Gene

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