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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
  • Protein Smaug Homolog 1 3
  • 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. Gene Ontology (GO) annotations related to this gene include 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.

Additional gene information for SAMD4A Gene

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

Genomics for SAMD4A Gene

GeneHancer (GH) Regulatory Elements for SAMD4A Gene

Promoters and enhancers for SAMD4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I054564 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.8 +1.0 974 7.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF213 SAMD4A CNIH1 LGALS3 LOC729451 GC14P054145
GH14I054754 Promoter/Enhancer 1.4 EPDnew dbSUPER 550.1 +187.7 187717 0.1 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 GATA2 FOS ATF7 NCOA1 SAMD4A PIR45415 LOC729451 GC14P054145
GH14I054759 Promoter 0.5 EPDnew 550.1 +192.5 192450 0.1 SAMD4A PIR45415 LOC729451 GC14P054145
GH14I054681 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.2 +117.7 117744 7 HDAC1 PKNOX1 SIN3A RAD21 RFX5 RCOR1 FOS RXRA USF2 CEBPB SAMD4A LOC729451 GC14P054145
GH14I054642 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.5 +76.3 76334 2.5 ELF3 SOX13 CTCF TFAP4 FOXA2 SAP130 ARID4B CEBPG RAD21 RARA SAMD4A CGRRF1 LOC729451 GC14P054145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAMD4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAMD4A gene promoter:

Genomic Locations for SAMD4A Gene

Genomic Locations for SAMD4A Gene
chr14:54,567,097-54,793,315
(GRCh38/hg38)
Size:
226,219 bases
Orientation:
Plus strand
chr14:55,033,815-55,260,033
(GRCh37/hg19)

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

Post-translational modifications for SAMD4A Gene

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for SAMD4A Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPU9

UniProtKB/Swiss-Prot:

SMAG1_HUMAN :
  • Belongs to the SMAUG family.
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.

Phenotypes From GWAS Catalog for SAMD4A Gene

Gene Ontology (GO) - Molecular Function for SAMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003729 mRNA binding IBA --
GO:0005515 protein binding IPI 25416956
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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMD4A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAMD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IBA --
GO:0001650 fibrillar center IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0030054 cell junction IDA,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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening IBA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006417 regulation of translation IEA --
GO:0017148 negative regulation of translation IEA --
GO:0043488 regulation of mRNA stability IBA --
genes like me logo Genes that share ontologies with SAMD4A: view

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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SAMD4A Gene



NURSA nuclear receptor signaling pathways regulating expression of SAMD4A Gene:

SAMD4A

SOURCE GeneReport for Unigene cluster for SAMD4A Gene:

Hs.98259

Evidence on tissue expression from TISSUES for SAMD4A Gene

  • Nervous system(4.7)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SAMD4A: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SAMD4A 34 33
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD4A 33 34
  • 94.57 (n)
cow
(Bos Taurus)
Mammalia SAMD4A 33 34
  • 94.33 (n)
mouse
(Mus musculus)
Mammalia Samd4 33 16 34
  • 92.63 (n)
rat
(Rattus norvegicus)
Mammalia Samd4a 33
  • 91.11 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMD4A 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD4A 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD4A 34 33
  • 84.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMD4A 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd4a 33
  • 76.39 (n)
Str.20160 33
zebrafish
(Danio rerio)
Actinopterygii samd4a 34
  • 71 (a)
OneToOne
LOC100149858 33
  • 69.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta smg 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC190.4 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7136 34
  • 49 (a)
OneToMany
Species where no ortholog for SAMD4A was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1957358 association, Lip and oral cavity carcinoma 54,755,757(+) T/C intron_variant
rs1000018759 -- 54,695,073(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000043985 -- 54,578,226(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000046309 -- 54,580,984(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000048851 -- 54,735,111(+) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv832802 CNV loss 17160897
nsv472257 CNV novel sequence insertion 20440878
nsv436788 CNV insertion 17901297
nsv1282 CNV insertion 18451855
esv3634564 CNV loss 21293372
esv3634563 CNV loss 21293372
esv3429423 CNV insertion 20981092
esv3376996 CNV duplication 20981092
esv3310503 CNV novel sequence insertion 20981092
esv2675932 CNV deletion 23128226
esv2670707 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)

Additional Variant Information for SAMD4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD4A Gene

Disorders for SAMD4A Gene

Additional Disease Information for SAMD4A

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

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 MV … Boccaccio GL (The Journal of biological chemistry 2005) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SAMD4A Gene

Sources for SAMD4A Gene

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