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

Gene ID: 80349, updated on 3-Nov-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
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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 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)

Genotypes

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

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