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    SKIC8 SKI8 subunit of superkiller complex [ Homo sapiens (human) ]

    Gene ID: 80349, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SKIC8provided by HGNC
    Official Full Name
    SKI8 subunit of superkiller complexprovided by HGNC
    Primary source
    HGNC:HGNC:30300
    See related
    Ensembl:ENSG00000140395 MIM:609540; AllianceGenome:HGNC:30300
    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
    SKI8; REC14; WDR61
    Summary
    WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.1), testis (RPKM 13.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SKIC8 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78283235..78299609, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76145807..76162185, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78575577..78591951, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene DNAJA4 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6709 Neighboring gene uncharacterized LOC105370910 Neighboring gene DnaJ heat shock protein family (Hsp40) member A4 Neighboring gene Sharpr-MPRA regulatory region 12554 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:78580466-78580710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:78591149-78592116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:78592117-78593083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78611709-78612294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:78614637-78615220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:78623995-78624809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78632245-78632873 Neighboring gene cellular retinoic acid binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78666421-78667214 Neighboring gene RWD domain containing 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Extraction of mRNA from Stalled Ribosomes by the Ski Complex. Zinoviev A, et al. Mol Cell, 2020 Mar 19. PMID 32006463, Free PMC Article
    2. The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism. Kögel A, et al. Mol Cell, 2022 Feb 17. PMID 35120588, Free PMC Article
    3. Histone H3R17me2a mark recruits human RNA polymerase-associated factor 1 complex to activate transcription. Wu J, et al. Proc Natl Acad Sci U S A, 2012 Apr 10. PMID 22451921, Free PMC Article
    4. SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver. Takahashi A, et al. Mol Cell, 2011 Jul 8. PMID 21726809, Free PMC Article
    5. The human PAF complex coordinates transcription with events downstream of RNA synthesis. Zhu B, et al. Genes Dev, 2005 Jul 15. PMID 16024656, Free PMC Article

    See all (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with WD repeat domain 61 (WDR61) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription elongation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cdc73/Paf1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cdc73/Paf1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Ski complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in euchromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    superkiller complex protein 8
    Names
    SKI complex component SKI8
    SKI8 homolog
    SKI8 subunit of superkiller complex protein
    Ski complex subunit Rec14
    WD repeat domain 61
    WD repeat-containing protein 61
    meiotic recombination REC14 protein homolog
    recombination protein REC14

    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)

    1. NM_001303247.2 → NP_001290176.1  superkiller complex protein 8 isoform a

      See identical proteins and their annotated locations for NP_001290176.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AK024754, BI916225, DB451240
      Consensus CDS
      CCDS10300.1
      UniProtKB/Swiss-Prot
      D3DW84, Q6IA22, Q7Z4X4, Q9GZS3
      Related
      ENSP00000453902.1, ENST00000560569.5
      Conserved Domains (2) summary
      cd00200
      Location:13 → 302
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:110 → 146
      7WD40; WD40 repeat [structural motif]

    2. NM_001303248.2 → NP_001290177.1  superkiller complex protein 8 isoform b

      See identical proteins and their annotated locations for NP_001290177.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame pair of exons in the middle of the transcript compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK024754, BI916225, BU528743
      Consensus CDS
      CCDS76785.1
      UniProtKB/TrEMBL
      H0YL19
      Related
      ENSP00000453024.1, ENST00000558459.5
      Conserved Domains (2) summary
      cd00200
      Location:17 → 209
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:17 → 53
      7WD40; WD40 repeat [structural motif]

    3. NM_025234.3 → NP_079510.1  superkiller complex protein 8 isoform a

      See identical proteins and their annotated locations for NP_079510.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK024754, BI916225
      Consensus CDS
      CCDS10300.1
      UniProtKB/Swiss-Prot
      D3DW84, Q6IA22, Q7Z4X4, Q9GZS3
      Related
      ENSP00000267973.2, ENST00000267973.7
      Conserved Domains (2) summary
      cd00200
      Location:13 → 302
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:110 → 146
      7WD40; WD40 repeat [structural motif]

    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
      78283235..78299609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522094.3 → XP_011520396.1  superkiller complex protein 8 isoform X1

      See identical proteins and their annotated locations for XP_011520396.1

      UniProtKB/Swiss-Prot
      D3DW84, Q6IA22, Q7Z4X4, Q9GZS3
      Related
      ENSP00000453801.1, ENST00000558311.5
      Conserved Domains (2) summary
      cd00200
      Location:13 → 302
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:110 → 146
      7WD40; WD40 repeat [structural motif]

    2. XM_017022637.3 → XP_016878126.1  superkiller complex protein 8 isoform X2

      Conserved Domains (2) summary
      cd00200
      Location:6 → 249
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:19 → 62
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      76145807..76162185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378926.1 → XP_054234901.1  superkiller complex protein 8 isoform X1

      UniProtKB/Swiss-Prot
      D3DW84, Q6IA22, Q7Z4X4, Q9GZS3

    2. XM_054378927.1 → XP_054234902.1  superkiller complex protein 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZS3.1 GenPept UniProtKB/Swiss-Prot:Q9GZS3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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