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

    Gene ID: 390598, updated on 10-Dec-2024

    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, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See SKOR1 in Genome Data Viewer
    Location:
    15q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (67825509..67834582)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (65647348..65656419)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (68117847..68126920)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 5 Neighboring gene uncharacterized LOC124903512 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40692 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:67983795-67984354 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68043019-68043520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9634 Neighboring gene heart enhancer 7 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:68074255-68075090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:68083192-68084061 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:68096122-68096984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68096985-68097845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68112196-68112794 Neighboring gene uncharacterized LOC124903570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68119115-68119753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68119754-68120391 Neighboring gene uncharacterized LOC105370870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68125833-68126669 Neighboring gene NANOG hESC enhancer GRCh37_chr15:68129167-68129697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68132321-68133273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68133274-68134225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68138525-68139025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68138024-68138524 Neighboring gene SKOR1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68145177-68145734 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr15:68145735-68146290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68152060-68152560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9638 Neighboring gene RNA, U6 small nuclear 1 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68210766-68211352 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40776 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:68238558-68239757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68260831-68261747 Neighboring gene ribosomal protein S15a pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001365915.1NP_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:180272
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:75168
      Ski_Sno; SKI/SNO/DAC family
      pfam12474
      Location:854935
      PKK; Polo kinase kinase
      cl26386
      Location:659846
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      67825509..67834582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. 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

    1. 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.
    2. NM_001258024.1: Suppressed sequence

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