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

    Gene ID: 6499, updated on 14-Apr-2018
    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; Vega:OTTHUMG00000031146
    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
    See SKIV2L in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (31958804..31969852)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31926581..31937532)

    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)

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Trichohepatoenteric syndrome 2
    MedGen: C3281289 OMIM: 614602 GeneReviews: Trichohepatoenteric Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    NHGRI GWA Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    • Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem (from REACTOME)
      Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystemTRiC has broad recognition specificities, but in the cell it interacts with only a defined set of substrates (Yam et al. 2008). Many of its substrates that are targeted during biosynthesis are conse...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Deadenylation-dependent mRNA decay, organism-specific biosystem (from REACTOME)
      Deadenylation-dependent mRNA decay, organism-specific biosystemAfter undergoing rounds of translation, mRNA is normally destroyed by the deadenylation-dependent pathway. Though the trigger is unclear, deadenylation likely proceeds in two steps: one catalyzed by...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    • RNA degradation, organism-specific biosystem (from KEGG)
      RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
    • RNA degradation, conserved biosystem (from KEGG)
      RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
    • Ski complex, organism-specific biosystem (from KEGG)
      Ski complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • Ski complex, conserved biosystem (from KEGG)
      Ski complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
    • mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystem (from REACTOME)
      mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystemThe degradation of mRNA from 3' to 5' occurs in two steps. First, the exosome exoribonuclease complex binds the 3' end of the oligoadenylated mRNA and hydrolyzes it from 3' to 5', yielding ribonucleo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent RNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-dependent RNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Ski complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Ski complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    helicase SKI2W
    Names
    SKI2 homolog, superkiller viralicidic activity 2-like
    helicase-like protein
    superkiller viralicidic activity 2-like

    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
      5001..15952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006929.4NP_008860.4  helicase SKI2W

      See identical proteins and their annotated locations for NP_008860.4

      Status: REVIEWED

      Source sequence(s)
      AL529319, AL645922, BE395851, BG396326, U09877, Z48796
      Consensus CDS
      CCDS4731.1
      UniProtKB/Swiss-Prot
      Q15477
      UniProtKB/TrEMBL
      A0A1U9X8J1
      Related
      ENSP00000364543.2, OTTHUMP00000029197, ENST00000375394.6, OTTHUMT00000076264
      Conserved Domains (1) summary
      cl28230
      Location:2801244
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      31958804..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.p12 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p12 ALT_REF_LOCI_2

      Range
      3436231..3447182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p12 ALT_REF_LOCI_3

      Range
      3206579..3217530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p12 ALT_REF_LOCI_5

      Range
      3300840..3311791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p12 ALT_REF_LOCI_6

      Range
      3214774..3225725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p12 ALT_REF_LOCI_7

      Range
      3259993..3270944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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