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Aliases for SMU1 Gene

Aliases for SMU1 Gene

  • Smu-1 Suppressor Of Mec-8 And Unc-52 Homolog (C. Elegans) 2 3 5
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Protein Homolog 3 4
  • Functional Spliceosome-Associated Protein 57 2 3
  • Brain-Enriched WD-Repeat Protein 3
  • FSAP57 3
  • SMU-1 3
  • BWD 3

External Ids for SMU1 Gene

Previous GeneCards Identifiers for SMU1 Gene

  • GC09M033038
  • GC09M033039
  • GC09M033000

Summaries for SMU1 Gene

GeneCards Summary for SMU1 Gene

SMU1 (Smu-1 Suppressor Of Mec-8 And Unc-52 Homolog (C. Elegans)) is a Protein Coding gene. An important paralog of this gene is ATG16L1.

Gene Wiki entry for SMU1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMU1 Gene

Genomics for SMU1 Gene

Regulatory Elements for SMU1 Gene

Enhancers for SMU1 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 SMU1 on UCSC Golden Path with GeneCards custom track

Promoters for SMU1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMU1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMU1 Gene

33,041,764 bp from pter
33,076,716 bp from pter
34,953 bases
Minus strand

Genomic View for SMU1 Gene

Genes around SMU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMU1 Gene

Proteins for SMU1 Gene

  • Protein details for SMU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    WD40 repeat-containing protein SMU1
    Protein Accession:
    Secondary Accessions:
    • B4E3L0
    • Q9BU59
    • Q9HA96
    • Q9NVD1

    Protein attributes for SMU1 Gene

    513 amino acids
    Molecular mass:
    57544 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SMU1 Gene


neXtProt entry for SMU1 Gene

Proteomics data for SMU1 Gene at MOPED

Post-translational modifications for SMU1 Gene

  • Ubiquitination at Lys 19, Lys 107, Lys 194, Lys 200, and Lys 379
  • Modification sites at PhosphoSitePlus

Other Protein References for SMU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMU1 Gene

Domains & Families for SMU1 Gene

Gene Families for SMU1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CTLH domain.
  • Belongs to the WD repeat SMU1 family.
  • Contains 6 WD repeats.
  • Contains 1 CTLH domain.
  • Contains 1 LisH domain.
  • Belongs to the WD repeat SMU1 family.
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with SMU1: view

Function for SMU1 Gene

genes like me logo Genes that share phenotypes with SMU1: view

Animal Model Products

miRNA for SMU1 Gene

miRTarBase miRNAs that target SMU1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMU1 Gene

Localization for SMU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMU1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

Jensen Localization Image for SMU1 Gene COMPARTMENTS Subcellular localization image for SMU1 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for SMU1 Gene

Pathways & Interactions for SMU1 Gene

SuperPathways for SMU1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMU1 Gene


No data available for Pathways by source and SIGNOR curated interactions for SMU1 Gene

Drugs & Compounds for SMU1 Gene

No Compound Related Data Available

Transcripts for SMU1 Gene

mRNA/cDNA for SMU1 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(608) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SMU1 Gene

Smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMU1 Gene

No ASD Table

Relevant External Links for SMU1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMU1 Gene

mRNA expression in normal human tissues for SMU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMU1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5) and Lymph node (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMU1 Gene

SOURCE GeneReport for Unigene cluster for SMU1 Gene Hs.655351

genes like me logo Genes that share expression patterns with SMU1: view

Protein tissue co-expression partners for SMU1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMU1 Gene

Orthologs for SMU1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMU1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SMU1 35
  • 93.7 (n)
  • 100 (a)
SMU1 36
  • 100 (a)
(Canis familiaris)
Mammalia SMU1 35
  • 94.67 (n)
  • 99.81 (a)
SMU1 36
  • 99 (a)
(Mus musculus)
Mammalia Smu1 35
  • 91.36 (n)
  • 100 (a)
Smu1 16
Smu1 36
  • 100 (a)
(Pan troglodytes)
Mammalia SMU1 35
  • 99.94 (n)
  • 100 (a)
SMU1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Smu1 35
  • 90.58 (n)
  • 99.61 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
-- 36
  • 96 (a)
-- 36
  • 100 (a)
(Ornithorhynchus anatinus)
Mammalia SMU1 36
  • 100 (a)
(Gallus gallus)
Aves SMU1 35
  • 83.95 (n)
  • 99.61 (a)
SMU1 36
  • 100 (a)
(Anolis carolinensis)
Reptilia SMU1 36
  • 99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75979 35
smu1 35
  • 82.52 (n)
  • 98.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7709 35
(Danio rerio)
Actinopterygii smu1a 35
  • 79.73 (n)
  • 95.52 (a)
zgc56147 35
SMU1 (2 of 2) 36
  • 72 (a)
smu1a 36
  • 96 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.58 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001414 35
  • 67.65 (n)
  • 81.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Smu1 35
  • 68.24 (n)
  • 78.59 (a)
CG5451 36
  • 79 (a)
(Caenorhabditis elegans)
Secernentea smu-1 35
  • 59.34 (n)
  • 62.77 (a)
smu-1 36
  • 62 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SMU1 35
  • 63.08 (n)
  • 64.97 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9666 35
(Hordeum vulgare)
Liliopsida Hv.6440 35
(Oryza sativa)
Liliopsida Os.1113 35
Os01g0322800 35
  • 61.77 (n)
  • 65.36 (a)
(Triticum aestivum)
Liliopsida Ta.5089 35
(Zea mays)
Liliopsida Zm.5872 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3735 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8469 36
  • 77 (a)
Species with no ortholog for SMU1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SMU1 Gene

Gene Tree for SMU1 (if available)
Gene Tree for SMU1 (if available)

Paralogs for SMU1 Gene

Paralogs for SMU1 Gene

(8) SIMAP similar genes for SMU1 Gene using alignment to 3 proteins: Pseudogenes for SMU1 Gene

genes like me logo Genes that share paralogs with SMU1: view

Variants for SMU1 Gene

Sequence variations from dbSNP and Humsavar for SMU1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1048229 -- 33,054,314(-) TTGAg(C/T)caggc intron-variant
rs1129912 -- 33,054,276(-) CTCAG(A/G)AGGCT intron-variant
rs7846968 -- 33,051,542(+) tagtg(C/G/T)ggaag intron-variant
rs7847981 -- 33,046,312(+) GACAA(C/T)ATTCC utr-variant-3-prime
rs1411610 -- 33,071,333(-) TTCTT(A/C)GCGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMU1 Gene

Variant ID Type Subtype PubMed ID
nsv893017 CNV Gain 21882294
nsv509299 CNV Insertion 20534489
esv2347895 CNV Deletion 18987734
esv2738370 CNV Deletion 23290073
esv1029480 CNV Deletion 17803354

Variation tolerance for SMU1 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.54% 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 SMU1 Gene

Disorders for SMU1 Gene

Relevant External Links for SMU1

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

No disorders were found for SMU1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMU1 Gene

Publications for SMU1 Gene

  1. Analysis of smu-1, a gene that regulates the alternative splicing of unc-52 pre-mRNA in Caenorhabditis elegans. (PMID: 11438655) Spike C.A. … Herman R.K. (Mol. Cell. Biol. 2001) 2 3 23 67
  2. Cloning and molecular characterization of a novel gene encoding a WD-repeat protein expressed in restricted areas of adult rat brain. (PMID: 11410362) Di Benedetto A.J. … Glavan B.J. (Gene 2001) 2 3 23
  3. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  4. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SMU1 Gene

Sources for SMU1 Gene