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    SMG8 SMG8 nonsense mediated mRNA decay factor [ Homo sapiens (human) ]

    Gene ID: 55181, updated on 17-Jun-2024

    Summary

    Official Symbol
    SMG8provided by HGNC
    Official Full Name
    SMG8 nonsense mediated mRNA decay factorprovided by HGNC
    Primary source
    HGNC:HGNC:25551
    See related
    Ensembl:ENSG00000167447 MIM:613175; AllianceGenome:HGNC:25551
    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
    ALKUS; C17orf71
    Summary
    Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SMG8 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59210035..59215230)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60078137..60083332)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57287396..57292591)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene spindle and kinetochore associated complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12502 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57235593-57236792 Neighboring gene microRNA 301a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12503 Neighboring gene proline rich 11 Neighboring gene speedy/RINGO cell cycle regulator family member E22, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57259739-57260240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57297898-57298448 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12505 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 17

    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
    Alzahrani-Kuwahara syndrome
    MedGen: C5543274 OMIM: 619268 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10587

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    nonsense-mediated mRNA decay factor SMG8
    Names
    amplified in breast cancer gene 2 protein
    protein SMG8
    protein smg-8 homolog
    smg-8 homolog, nonsense mediated mRNA decay factor

    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.

    mRNA and Protein(s)

    1. NM_018149.7NP_060619.4  nonsense-mediated mRNA decay factor SMG8

      See identical proteins and their annotated locations for NP_060619.4

      Status: VALIDATED

      Source sequence(s)
      AF349467, AL834490
      Consensus CDS
      CCDS11615.1
      UniProtKB/Swiss-Prot
      Q8N5U5, Q8ND04, Q8TDN0, Q9H5P5, Q9NVQ1
      Related
      ENSP00000300917.4, ENST00000300917.10
      Conserved Domains (1) summary
      pfam10220
      Location:42985
      Smg8_Smg9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      59210035..59215230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      60078137..60083332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)