Format

Send to:

Choose Destination

SMG1 SMG1, nonsense mediated mRNA decay associated PI3K related kinase [ Homo sapiens (human) ]

Gene ID: 23049, updated on 26-May-2016
Official Symbol
SMG1provided by HGNC
Official Full Name
SMG1, nonsense mediated mRNA decay associated PI3K related kinaseprovided by HGNC
Primary source
HGNC:HGNC:30045
See related
Ensembl:ENSG00000157106 HPRD:06123; MIM:607032; Vega:OTTHUMG00000166900
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
ATX; LIP; 61E3.4
Summary
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
Orthologs
Location:
16p12.3
Exon count:
63
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (18804853..18926409, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18816175..18937748, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 1 Neighboring gene uncharacterized LOC105371111 Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene transmembrane channel like 7 Neighboring gene uncharacterized LOC102723385 Neighboring gene coenzyme Q7, hydroxylase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), organism-specific biosystem (from REACTOME)
    Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), organism-specific biosystemDuring normal translation termination eRF3 associates with the ribosome and then interacts with PABP bound to the polyadenylate tail of the mRNA to release the ribosome and allow a new round of trans...
  • Nonsense-Mediated Decay (NMD), organism-specific biosystem (from REACTOME)
    Nonsense-Mediated Decay (NMD), organism-specific biosystemThe Nonsense-Mediated Decay (NMD) pathway activates the destruction of mRNAs containing premature termination codons (PTCs) (reviewed in Isken and Maquat 2007, Chang et al. 2007, Behm-Ansmant et al. ...
  • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
    mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
  • mRNA surveillance pathway, conserved biosystem (from KEGG)
    mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
serine/threonine-protein kinase SMG1
Names
PI-3-kinase-related kinase SMG-1
SMG1 phosphatidylinositol 3-kinase-related kinase
lambda-interacting protein
lambda/iota protein kinase C-interacting protein
smg-1 homolog, phosphatidylinositol 3-kinase-related kinase
NP_055907.3

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_015092.4NP_055907.3  serine/threonine-protein kinase SMG1

    See identical proteins and their annotated locations for NP_055907.3

    Status: REVIEWED

    Source sequence(s)
    AB061371, AK025794, AL833298, AW088221, AW503964, AY014957, BC037335, BE079340, DA433527, DA854035
    Consensus CDS
    CCDS45430.1
    UniProtKB/Swiss-Prot
    Q96Q15
    Related
    ENSP00000402515, OTTHUMP00000234388, ENST00000446231, OTTHUMT00000391817
    Conserved Domains (2) summary
    pfam02260
    Location:36313661
    FATC; FATC domain
    cd05170
    Location:21212426
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    18804853..18926409 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255184.2XP_005255241.1  

    Related
    ENSP00000456259, OTTHUMP00000256093, ENST00000565324, OTTHUMT00000435790
    Conserved Domains (2) summary
    pfam02260
    Location:36073637
    FATC; FATC domain
    cd05170
    Location:20692402
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1
  2. XM_011545769.1XP_011544071.1  

    Conserved Domains (2) summary
    pfam02260
    Location:36583688
    FATC; FATC domain
    cd05170
    Location:21212454
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1
  3. XM_005255182.2XP_005255239.1  

    Conserved Domains (2) summary
    pfam02260
    Location:36593689
    FATC; FATC domain
    cd05170
    Location:21212454
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1
  4. XM_005255183.2XP_005255240.1  

    Conserved Domains (2) summary
    pfam02260
    Location:36333663
    FATC; FATC domain
    cd05170
    Location:20952428
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1
  5. XM_011545770.1XP_011544072.1  

    Conserved Domains (2) summary
    pfam02260
    Location:30293059
    FATC; FATC domain
    cd05170
    Location:14911824
    PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    18903656..19025005 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)