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

Gene ID: 6499, updated on 7-Jun-2020

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

Genomic context

See SKIV2L in Genome Data Viewer
Location:
6p21.33
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31959157..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)

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
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

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Ski complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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)

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.

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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