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    SKIL SKI like proto-oncogene [ Homo sapiens (human) ]

    Gene ID: 6498, updated on 27-Nov-2024

    Summary

    Official Symbol
    SKILprovided by HGNC
    Official Full Name
    SKI like proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:10897
    See related
    Ensembl:ENSG00000136603 MIM:165340; AllianceGenome:HGNC:10897
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNO; SnoA; SnoI; SnoN
    Summary
    The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in gall bladder (RPKM 14.0), appendix (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SKIL in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (170357715..170396849)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (173142245..173181517)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170075503..170114637)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene polyhomeotic homolog 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14881 Neighboring gene RNA, U7 small nuclear 32 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14883 Neighboring gene protein kinase C iota Neighboring gene Sharpr-MPRA regulatory region 5121 Neighboring gene MPRA-validated peak4916 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:170079595-170080095 Neighboring gene MPRA-validated peak4917 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:170136404-170137356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:170143143-170143644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:170143645-170144144 Neighboring gene microRNA 6828 Neighboring gene claudin 11 Neighboring gene SLC7A14 antisense RNA 1 Neighboring gene solute carrier family 7 member 14 Neighboring gene keratin 8 pseudogene 13

    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
    Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphocyte homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to antibiotic IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to cytokine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ski-like protein
    Names
    SKI-like oncogene
    ski-related oncogene snoN

    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.

    Genomic

    1. NG_030357.1 RefSeqGene

      Range
      5031..44151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145097.2NP_001138569.1  ski-like protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as SnoN2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC073288, AI245308, U70730
      Consensus CDS
      CCDS46953.1
      UniProtKB/Swiss-Prot
      P12757
      Related
      ENSP00000400193.2, ENST00000413427.6
      Conserved Domains (4) summary
      smart01046
      Location:261356
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:136235
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:593604
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:478626
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_001145098.3NP_001138570.1  ski-like protein isoform 3

      See identical proteins and their annotated locations for NP_001138570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AC073288, AI245308, AK300053, DA464211
      Consensus CDS
      CCDS46954.1
      UniProtKB/Swiss-Prot
      P12757
      Related
      ENSP00000406520.2, ENST00000426052.6
      Conserved Domains (4) summary
      smart01046
      Location:241336
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:116215
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:619630
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:504652
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001248008.1NP_001234937.1  ski-like protein isoform 1

      See identical proteins and their annotated locations for NP_001234937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AC073288, AI245308, X15219
      Consensus CDS
      CCDS33890.1
      UniProtKB/Swiss-Prot
      A6NGT1, B4DT50, O00464, P12756, P12757, Q07501
      Related
      ENSP00000415243.3, ENST00000458537.7
      Conserved Domains (4) summary
      smart01046
      Location:261356
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:136235
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:639650
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:524672
      GBP_C; Guanylate-binding protein, C-terminal domain
    4. NM_005414.5NP_005405.2  ski-like protein isoform 1

      See identical proteins and their annotated locations for NP_005405.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as snoN).
      Source sequence(s)
      AC073288, AI245308, BC059386, DA464211, X15219
      Consensus CDS
      CCDS33890.1
      UniProtKB/Swiss-Prot
      A6NGT1, B4DT50, O00464, P12756, P12757, Q07501
      Related
      ENSP00000259119.4, ENST00000259119.9
      Conserved Domains (4) summary
      smart01046
      Location:261356
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:136235
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:639650
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:524672
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      170357715..170396849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247721.2XP_005247778.1  ski-like protein isoform X1

      See identical proteins and their annotated locations for XP_005247778.1

      UniProtKB/Swiss-Prot
      A6NGT1, B4DT50, O00464, P12756, P12757, Q07501
      Conserved Domains (4) summary
      smart01046
      Location:261356
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:136235
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:639650
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:524672
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_006713735.2XP_006713798.1  ski-like protein isoform X1

      See identical proteins and their annotated locations for XP_006713798.1

      UniProtKB/Swiss-Prot
      A6NGT1, B4DT50, O00464, P12756, P12757, Q07501
      Conserved Domains (4) summary
      smart01046
      Location:261356
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:136235
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:639650
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:524672
      GBP_C; Guanylate-binding protein, C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      173142245..173181517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347608.1XP_054203583.1  ski-like protein isoform X1

    2. XM_054347609.1XP_054203584.1  ski-like protein isoform X1