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    SKIV2L Ski2 like RNA helicase [ Homo sapiens (human) ]

    Gene ID: 6499, updated on 8-Jul-2021

    Summary

    Official Symbol
    SKIV2Lprovided by HGNC
    Official Full Name
    Ski2 like RNA helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:10898
    See related
    Ensembl:ENSG00000204351 MIM:600478
    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
    HLP; 170A; SKI2; DDX13; SKI2W; SKIV2; THES2; SKIV2L1
    Summary
    DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 10.8), lymph node (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SKIV2L in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31959157..31969852)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31926952..31937528)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene complement factor B Neighboring gene negative elongation factor complex member E Neighboring gene microRNA 1236 Neighboring gene serine/threonine kinase 19 Neighboring gene decapping exoribonuclease Neighboring gene complement C4A (Rodgers blood group)

    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

    Associated conditions

    Description Tests
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    GeneReviews: Not available
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    GeneReviews: Not available
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    GeneReviews: Not available
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    GeneReviews: Not available
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    Seven new loci associated with age-related macular degeneration.
    GeneReviews: Not available
    Trichohepatoenteric syndrome 2
    MedGen: C3281289 OMIM: 614602 GeneReviews: Trichohepatoenteric Syndrome
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Ski complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Ski complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    helicase SKI2W
    Names
    SKI2 homolog, superkiller viralicidic activity 2-like
    helicase-like protein
    superkiller viralicidic activity 2-like

    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_032652.1 RefSeqGene

      Range
      5372..15948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006929.5NP_008860.4  helicase SKI2W

      See identical proteins and their annotated locations for NP_008860.4

      Status: REVIEWED

      Source sequence(s)
      AL529319, BE395851, BG396326, U09877, Z48796
      Consensus CDS
      CCDS4731.1
      UniProtKB/Swiss-Prot
      Q15477
      UniProtKB/TrEMBL
      A0A1U9X8J1
      Related
      ENSP00000364543.2, ENST00000375394.7
      Conserved Domains (1) summary
      cl28230
      Location:2801244
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      31959157..31969852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514815.3XP_011513117.1  helicase SKI2W isoform X1

      See identical proteins and their annotated locations for XP_011513117.1

      Conserved Domains (4) summary
      smart00490
      Location:626708
      HELICc; helicase superfamily c-terminal domain
      smart00487
      Location:309486
      DEXDc; DEAD-like helicases superfamily
      pfam00270
      Location:315462
      DEAD; DEAD/DEAH box helicase
      pfam13234
      Location:7651023
      rRNA_proc-arch; rRNA-processing arch domain

    RNA

    1. XR_926301.3 RNA Sequence

      Related
      ENST00000474839.5
    2. XR_001743586.2 RNA Sequence

      Related
      ENST00000465703.5

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      3436602..3447178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      3206950..3217526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      3301211..3311787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      3215145..3225721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      3260364..3270940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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