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Samd4 sterile alpha motif domain containing 4 [ Mus musculus (house mouse) ]

Gene ID: 74480, updated on 2-Nov-2024

Summary

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Official Symbol
Samd4provided by MGI
Official Full Name
sterile alpha motif domain containing 4provided by MGI
Primary source
MGI:MGI:1921730
See related
Ensembl:ENSMUSG00000021838 AllianceGenome:MGI:1921730
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
sunk; Smaug; Samd4a; Smaug1; 1700024G08Rik; 1700111L17Rik; 4933436G17Rik
Summary
Predicted to enable mRNA binding activity and translation repressor activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within positive regulation of translation. Located in synapse. Is expressed in cerebral cortex and telencephalon. Orthologous to human SAMD4A (sterile alpha motif domain containing 4A). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 72.9), bladder adult (RPKM 9.4) and 6 other tissues See more
Orthologs
human all
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Genomic context

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See Samd4 in Genome Data Viewer
Location:
14 C1; 14 24.41 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (47120414..47343274)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (46882965..47105817)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5430 Neighboring gene cell growth regulator with ring finger domain 1 Neighboring gene predicted gene, 34934 Neighboring gene STARR-seq mESC enhancer starr_36564 Neighboring gene predicted gene, 52120 Neighboring gene microRNA 378c Neighboring gene STARR-seq mESC enhancer starr_36566 Neighboring gene predicted gene, 52121 Neighboring gene predicted gene 10371 Neighboring gene predicted gene, 52169 Neighboring gene STARR-positive B cell enhancer ABC_E4106 Neighboring gene GTP cyclohydrolase 1 Neighboring gene poly(A) binding protein, cytoplasmic 2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. circSAMD4A participates in the apoptosis and autophagy of dopaminergic neurons via the miR‑29c‑3p‑mediated AMPK/mTOR pathway in Parkinson's disease. Wang W, et al. Mol Med Rep, 2021 Jul. PMID 34080649, Free PMC Article
  2. Mutation of mouse Samd4 causes leanness, myopathy, uncoupled mitochondrial respiration, and dysregulated mTORC1 signaling. Chen Z, et al. Proc Natl Acad Sci U S A, 2014 May 20. PMID 24799716, Free PMC Article
  3. Smaug1 mRNA-silencing foci respond to NMDA and modulate synapse formation. Baez MV, et al. J Cell Biol, 2011 Dec 26. PMID 22201125, Free PMC Article
  4. Mammalian Smaug is a translational repressor that forms cytoplasmic foci similar to stress granules. Baez MV, et al. J Biol Chem, 2005 Dec 30. PMID 16221671
  5. Staufen 1 is expressed by neural precursor cells in the developing murine cortex but is dispensable for NPC self-renewal and neuronal differentiation in vitro. Kuc CA, et al. Brain Res, 2021 Dec 15. PMID 34678304

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. circSAMD4A participates in the apoptosis and autophagy of dopaminergic neurons via the miR29c3pmediated AMPK/mTOR pathway in Parkinson's disease.
    Title: circSAMD4A participates in the apoptosis and autophagy of dopaminergic neurons via the miR‑29c‑3p‑mediated AMPK/mTOR pathway in Parkinson's disease.
  2. Samd4 has a role in leanness, myopathy, uncoupled mitochondrial respiration, and regulation of mTORC1 signaling
    Title: Mutation of mouse Samd4 causes leanness, myopathy, uncoupled mitochondrial respiration, and dysregulated mTORC1 signaling.
  3. Smaug 1 has a role in RNA granule formation and translation regulation in neurons
    Title: Mammalian Smaug is a translational repressor that forms cytoplasmic foci similar to stress granules.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 
  • Spontaneous (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables translation repressor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in negative regulation of translation IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear-transcribed mRNA poly(A) tail shortening IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within positive regulation of translation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of mRNA stability IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in P-body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell junction ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein Smaug homolog 1
Names
smaug 1
sterile alpha motif domain-containing protein 4A

NCBI Reference Sequences (RefSeq)

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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_001037221.2 → NP_001032298.1  protein Smaug homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001032298.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC131586, AC159006, AK134243
    Consensus CDS
    CCDS26982.1
    UniProtKB/Swiss-Prot
    A6H6C5, Q2VA55, Q3TQA5, Q3TTN7, Q3UZ00, Q8CBY1, Q9D3T3
    Related
    ENSMUSP00000022386.9, ENSMUST00000022386.15
    Conserved Domains (1) summary
    cd09557
    Location:320 → 382
    SAM_Smaug; SAM domain of Smaug subfamily

  2. NM_001163433.1 → NP_001156905.1  protein Smaug homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001156905.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC159006, AK006299, AK161277
    Consensus CDS
    CCDS49468.1
    UniProtKB/TrEMBL
    A0A2D0VMX2, A0A2I3BPM7
    Related
    ENSMUSP00000122833.2, ENSMUST00000125113.9
    Conserved Domains (1) summary
    cd09557
    Location:219 → 281
    SAM_Smaug; SAM domain of Smaug subfamily

  3. NM_001310544.1 → NP_001297473.1  protein Smaug homolog 1 isoform 4

    See identical proteins and their annotated locations for NP_001297473.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC159006, AK017081, AK133470, AK135279, AV240840, BM939644
    Consensus CDS
    CCDS79301.1
    UniProtKB/Swiss-Prot
    Q8CBY1
    Related
    ENSMUSP00000115569.2, ENSMUST00000125688.2

  4. NM_028966.3 → NP_083242.1  protein Smaug homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_083242.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC131586, AC159006, AK133470, BC145827
    Consensus CDS
    CCDS26983.1
    UniProtKB/TrEMBL
    A0A2I3BPM7
    Related
    ENSMUSP00000098237.4, ENSMUST00000100672.11
    Conserved Domains (1) summary
    cd09557
    Location:238 → 294
    SAM_Smaug; SAM domain of Smaug subfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    47120414..47343274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158884.1 → XP_036014777.1  protein Smaug homolog 1 isoform X2

    UniProtKB/Swiss-Prot
    A6H6C5, Q2VA55, Q3TQA5, Q3TTN7, Q3UZ00, Q8CBY1, Q9D3T3
    Conserved Domains (1) summary
    cd09557
    Location:320 → 382
    SAM_Smaug; SAM domain of Smaug subfamily

  2. XM_030248082.2 → XP_030103942.1  protein Smaug homolog 1 isoform X4

    UniProtKB/TrEMBL
    A0A2I3BPM7
    Related
    ENSMUSP00000114621.2, ENSMUST00000137543.9
    Conserved Domains (1) summary
    cd09557
    Location:238 → 294
    SAM_Smaug; SAM domain of Smaug subfamily

  3. XM_036158883.1 → XP_036014776.1  protein Smaug homolog 1 isoform X1

    Conserved Domains (1) summary
    cd09557
    Location:370 → 432
    SAM_Smaug; SAM domain of Smaug subfamily

  4. XM_006519627.4 → XP_006519690.1  protein Smaug homolog 1 isoform X1

    Conserved Domains (1) summary
    cd09557
    Location:370 → 432
    SAM_Smaug; SAM domain of Smaug subfamily

  5. XM_006519628.3 → XP_006519691.1  protein Smaug homolog 1 isoform X3

    Conserved Domains (1) summary
    cd09557
    Location:269 → 331
    SAM_Smaug; SAM domain of Smaug subfamily

  6. XM_006519631.5 → XP_006519694.1  protein Smaug homolog 1 isoform X5

    See identical proteins and their annotated locations for XP_006519694.1

    UniProtKB/Swiss-Prot
    Q8CBY1
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CBY1.2 GenPept UniProtKB/Swiss-Prot:Q8CBY1

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