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Aliases for SAMD4A Gene

Aliases for SAMD4A Gene

  • Sterile Alpha Motif Domain Containing 4A 2 3 5
  • SAM Domain-Containing Protein 4A 3 4
  • SMAUG1 3 4
  • SAMD4 3 4
  • Sterile Alpha Motif Domain-Containing Protein 4A 4
  • Sterile Alpha Motif Domain Containing 4 2
  • Smaug Homolog (Drosophila) 2
  • KIAA1053 4
  • Smaug 1 4
  • HSmaug1 4
  • SMAUG 3
  • SMGA 3
  • SMG 3

External Ids for SAMD4A Gene

Previous HGNC Symbols for SAMD4A Gene

  • SAMD4

Previous GeneCards Identifiers for SAMD4A Gene

  • GC14P054105
  • GC14P055034
  • GC14P035197

Summaries for SAMD4A Gene

Entrez Gene Summary for SAMD4A Gene

  • Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SAMD4A Gene

SAMD4A (Sterile Alpha Motif Domain Containing 4A) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and translation repressor activity. An important paralog of this gene is SAMD4B.

UniProtKB/Swiss-Prot for SAMD4A Gene

  • Acts as a translational repressor of SRE-containing messengers.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD4A Gene

Genomics for SAMD4A Gene

Regulatory Elements for SAMD4A Gene

Enhancers for SAMD4A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SAMD4A on UCSC Golden Path with GeneCards custom track

Promoters for SAMD4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SAMD4A on UCSC Golden Path with GeneCards custom track

Genomic Location for SAMD4A Gene

Chromosome:
14
Start:
54,567,097 bp from pter
End:
54,793,315 bp from pter
Size:
226,219 bases
Orientation:
Plus strand

Genomic View for SAMD4A Gene

Genes around SAMD4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD4A Gene

Proteins for SAMD4A Gene

  • Protein details for SAMD4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPU9-SMAG1_HUMAN
    Recommended name:
    Protein Smaug homolog 1
    Protein Accession:
    Q9UPU9
    Secondary Accessions:
    • A8MPZ5
    • Q0VA96
    • Q6PEW4

    Protein attributes for SAMD4A Gene

    Size:
    718 amino acids
    Molecular mass:
    79415 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH57838.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAP97302.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SAMD4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMD4A Gene

Proteomics data for SAMD4A Gene at MOPED

Post-translational modifications for SAMD4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAMD4A Gene

No data available for DME Specific Peptides for SAMD4A Gene

Domains & Families for SAMD4A Gene

Gene Families for SAMD4A Gene

Protein Domains for SAMD4A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SAMD4A Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPU9

UniProtKB/Swiss-Prot:

SMAG1_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Belongs to the SMAUG family.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the SMAUG family.
genes like me logo Genes that share domains with SAMD4A: view

Function for SAMD4A Gene

Molecular function for SAMD4A Gene

UniProtKB/Swiss-Prot Function:
Acts as a translational repressor of SRE-containing messengers.

Gene Ontology (GO) - Molecular Function for SAMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030371 translation repressor activity IDA 16221671
genes like me logo Genes that share ontologies with SAMD4A: view
genes like me logo Genes that share phenotypes with SAMD4A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD4A Gene

Localization for SAMD4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD4A Gene

Cytoplasm. Cell projection, dendrite. Cell junction, synapse, synaptosome. Note=Enriched in synaptoneurosomes (By similarity). Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Colocalizes throughout the cytoplasm in granules with polyadenylated RNAs, PABPC1 and STAU1. Also frequently colocalizes in cytoplasmic stress granule-like foci with ELAVL1, TIA1 and TIAL1. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAMD4A Gene COMPARTMENTS Subcellular localization image for SAMD4A gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SAMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with SAMD4A: view

Pathways & Interactions for SAMD4A Gene

SuperPathways for SAMD4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMD4A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SAMD4A Gene

Drugs & Compounds for SAMD4A Gene

No Compound Related Data Available

Transcripts for SAMD4A Gene

Unigene Clusters for SAMD4A Gene

Sterile alpha motif domain containing 4A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD4A Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - -
SP3:
SP4: - -
SP5: -
SP6: - - - - - - - - -
SP7:
SP8: - - - - - -
SP9: - - - - - - - - -

ExUns: 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SAMD4A Gene

GeneLoc Exon Structure for
SAMD4A
ECgene alternative splicing isoforms for
SAMD4A

Expression for SAMD4A Gene

mRNA expression in normal human tissues for SAMD4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAMD4A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.5).

Protein differential expression in normal tissues from HIPED for SAMD4A Gene

This gene is overexpressed in Saliva (27.3), Fetal Brain (19.1), Spinal cord (15.1), and Placenta (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SAMD4A Gene



SOURCE GeneReport for Unigene cluster for SAMD4A Gene Hs.98259

genes like me logo Genes that share expression patterns with SAMD4A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SAMD4A Gene

Orthologs for SAMD4A Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SAMD4A 35
  • 94.33 (n)
  • 97.77 (a)
SAMD4A 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD4A 35
  • 94.57 (n)
  • 97.49 (a)
SAMD4A 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Samd4 35
  • 92.63 (n)
  • 96.34 (a)
Samd4 16
Samd4 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SAMD4A 35
  • 99.49 (n)
  • 99.58 (a)
SAMD4A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Samd4a 35
  • 91.11 (n)
  • 95.81 (a)
oppossum
(Monodelphis domestica)
Mammalia SAMD4A 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD4A 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD4A 35
  • 84.02 (n)
  • 87.94 (a)
SAMD4A 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMD4A 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd4a 35
  • 76.39 (n)
  • 83.36 (a)
Str.20160 35
zebrafish
(Danio rerio)
Actinopterygii LOC100149858 35
  • 69.44 (n)
  • 72.62 (a)
samd4a 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta smg 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC190.4 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7136 36
  • 49 (a)
OneToMany
Species with no ortholog for SAMD4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAMD4A Gene

ENSEMBL:
Gene Tree for SAMD4A (if available)
TreeFam:
Gene Tree for SAMD4A (if available)

Paralogs for SAMD4A Gene

Paralogs for SAMD4A Gene

(2) SIMAP similar genes for SAMD4A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SAMD4A: view

Variants for SAMD4A Gene

Sequence variations from dbSNP and Humsavar for SAMD4A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs11431 -- 54,788,955(+) GAAGA(A/C/T)GAGAG utr-variant-3-prime
rs1307289 -- 54,575,897(+) AGGCC(A/G)GAGAA intron-variant
rs7140661 -- 54,735,362(+) TTAGT(A/G)TCGAT intron-variant
rs1475085 -- 54,725,800(+) GGTAC(A/G)GAAGT intron-variant
rs7141453 -- 54,581,231(+) TATAC(A/C)AAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD4A Gene

Variant ID Type Subtype PubMed ID
nsv832802 CNV Loss 17160897
esv2670707 CNV Deletion 23128226
nsv1282 CNV Insertion 18451855
nsv436788 CNV Insertion 17901297
esv2675932 CNV Deletion 23128226
esv1004703 CNV Deletion 20482838

Variation tolerance for SAMD4A Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.49% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SAMD4A Gene

Disorders for SAMD4A Gene

Relevant External Links for SAMD4A

Genetic Association Database (GAD)
SAMD4A
Human Genome Epidemiology (HuGE) Navigator
SAMD4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAMD4A

No disorders were found for SAMD4A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMD4A Gene

Publications for SAMD4A Gene

  1. Mammalian Smaug is a translational repressor that forms cytoplasmic foci similar to stress granules. (PMID: 16221671) Baez M.V. … Boccaccio G.L. (J. Biol. Chem. 2005) 2 3 4 67
  2. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Gene network analysis in a pediatric cohort identifies novel lung function genes. (PMID: 24023788) Ong B.A. … Hakonarson H. (PLoS ONE 2013) 3
  5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PMID: 24255178) Couzens A.L. … Gingras A.C. (Sci Signal 2013) 3

Products for SAMD4A Gene

Sources for SAMD4A Gene

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