Format

Send to:

Choose Destination

SMG9 SMG9 nonsense mediated mRNA decay factor [ Homo sapiens (human) ]

Gene ID: 56006, updated on 5-Apr-2020

Summary

Official Symbol
SMG9provided by HGNC
Official Full Name
SMG9 nonsense mediated mRNA decay factorprovided by HGNC
Primary source
HGNC:HGNC:25763
See related
Ensembl:ENSG00000105771 MIM:613176
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
HBMS; C19orf61; F17127_1
Summary
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
Expression
Broad expression in testis (RPKM 13.7), lymph node (RPKM 6.7) and 24 other tissues See more
Orthologs

Genomic context

See SMG9 in Genome Data Viewer
Location:
19q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (43727983..43754962, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44232851..44259142, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like Neighboring gene immunity related GTPase cinema Neighboring gene potassium calcium-activated channel subfamily N member 4 Neighboring gene CRISPRi-validated cis-regulatory element chr19.4589

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12886, DKFZp564H1322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein SMG9
Names
protein smg-9 homolog

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_051200.1 RefSeqGene

    Range
    5075..32054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019108.4NP_061981.2  protein SMG9

    See identical proteins and their annotated locations for NP_061981.2

    Status: REVIEWED

    Source sequence(s)
    AC004780, AL136606, BQ180848, HY084349
    Consensus CDS
    CCDS33043.2
    UniProtKB/Swiss-Prot
    Q9H0W8
    UniProtKB/TrEMBL
    A0A024R0Q0
    Related
    ENSP00000270066.6, ENST00000270066.11

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    43727983..43754962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259057.3XP_005259114.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_005259114.1

    Related
    ENSP00000471398.1, ENST00000601170.5
  2. XM_011527113.1XP_011525415.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_011525415.1

  3. XM_011527115.1XP_011525417.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_011525417.1

  4. XM_011527116.1XP_011525418.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_011525418.1

  5. XM_011527114.1XP_011525416.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_011525416.1

  6. XM_017026988.1XP_016882477.1  protein SMG9 isoform X2

  7. XM_024451608.1XP_024307376.1  protein SMG9 isoform X3

Support Center