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Aliases for SMU1 Gene

Aliases for SMU1 Gene

  • DNA Replication Regulator And Spliceosomal Factor 2 3 5
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Protein Homolog 3 4
  • Functional Spliceosome-Associated Protein 57 2 3
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Homolog (C. Elegans) 2
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Homolog 3
  • WD40 Repeat-Containing Protein SMU1 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 (DNA Replication Regulator And Spliceosomal Factor) is a Protein Coding gene. An important paralog of this gene is ATG16L2.

Gene Wiki entry for SMU1 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G033472 1.4 ENCODE dbSUPER 77.2 -396.8 -396837 2.9 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 YY1 ZNF302 SMU1 TOPORS ASS1P12 TCEA1P4 ENSG00000228352 DFFBP1 GVQW1 ANKRD18B NOL6 AQP7
GH09G033867 1.4 Ensembl ENCODE dbSUPER 33.2 -791.8 -791785 1.8 ZFP64 ZNF354C ZNF202 ZNF654 ZNF680 ZBTB11 CEBPB ZNF426 REST ZNF623 SMU1 ASS1P12 TCEA1P4 ENSG00000228352 FAM205A ENSG00000230074 UBE2R2 DCAF12 GC09P034046 ENSG00000200834
GH09G034047 1.1 ENCODE 35.1 -972.0 -972020 3.9 PKNOX1 CREB3L1 MLX ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 SMU1 ENSG00000228352 UBE2R2 PRSS3 ENSG00000260947 KIF24 C9orf24 DCAF12 OSTCP8 UBAP2
GH09G033286 1.7 Ensembl ENCODE dbSUPER 14.4 -216.4 -216411 13.0 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC NFX1 BAG1 SMU1 ANXA2P2 CHMP5 AQP3 B4GALT1 SPINK4 PIR32325
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000234334 216 1401 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 ZNF207 ZNF263

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

Post-translational modifications for SMU1 Gene

  • Ubiquitination at Lys19, isoforms=107, Lys194, isoforms=2200, and isoforms=2379
  • 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



  • Belongs to the WD repeat SMU1 family.
  • Belongs to the WD repeat SMU1 family.
genes like me logo Genes that share domains with SMU1: view

Function for SMU1 Gene

Gene Ontology (GO) - Molecular Function for SMU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with SMU1: view
genes like me logo Genes that share phenotypes with SMU1: view

Animal Model Products

CRISPR Products

miRNA for SMU1 Gene

miRTarBase miRNAs that target SMU1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMU1

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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 SMU1 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3

Gene Ontology (GO) - Cellular Components for SMU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SMU1: view

Pathways & Interactions 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMU1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SMU1 Gene

Protein tissue co-expression partners for SMU1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMU1 Gene:


SOURCE GeneReport for Unigene cluster for SMU1 Gene:


Evidence on tissue expression from TISSUES for SMU1 Gene

  • Lung(4.4)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with SMU1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Monodelphis domestica)
Mammalia -- 35
  • 100 (a)
-- 35
  • 96 (a)
-- 35
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia SMU1 35
  • 100 (a)
(Pan troglodytes)
Mammalia SMU1 34 35
  • 99.94 (n)
(Canis familiaris)
Mammalia SMU1 34 35
  • 94.67 (n)
(Bos Taurus)
Mammalia SMU1 34 35
  • 93.7 (n)
(Mus musculus)
Mammalia Smu1 34 16 35
  • 91.36 (n)
(Rattus norvegicus)
Mammalia Smu1 34
  • 90.58 (n)
(Gallus gallus)
Aves SMU1 34 35
  • 83.95 (n)
(Anolis carolinensis)
Reptilia SMU1 35
  • 99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smu1 34
  • 82.52 (n)
MGC75979 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7709 34
(Danio rerio)
Actinopterygii smu1a 34 35
  • 79.73 (n)
SMU1 (2 of 2) 35
  • 72 (a)
zgc56147 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.58 34
fruit fly
(Drosophila melanogaster)
Insecta CG5451 35
  • 79 (a)
Smu1 34
  • 68.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001414 34
  • 67.65 (n)
(Caenorhabditis elegans)
Secernentea smu-1 34 35
  • 59.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SMU1 34
  • 63.08 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9666 34
(Oryza sativa)
Liliopsida Os01g0322800 34
  • 61.77 (n)
Os.1113 34
(Hordeum vulgare)
Liliopsida Hv.6440 34
(Triticum aestivum)
Liliopsida Ta.5089 34
(Zea mays)
Liliopsida Zm.5872 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8469 35
  • 77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3735 34
Species where no ortholog for SMU1 was found in the sources mined by GeneCards:
  • 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
rs1000006612 -- 33,073,963(+) GGGGA(-/C)CCCCC intron-variant
rs1000142120 -- 33,071,495(+) TTACT(A/G)ACCAA intron-variant
rs1000266963 -- 33,075,308(+) GGAGG(C/T)GGTGC intron-variant
rs1000333110 -- 33,069,072(+) TAGTT(A/G)AACTA intron-variant
rs1000387602 -- 33,044,290(+) GCCCT(C/T)AAGAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv7515n100 CNV gain 25217958
esv1029480 CNV deletion 17803354
esv2347895 CNV deletion 18987734
esv2738370 CNV deletion 23290073
esv3544780 CNV deletion 23714750
esv3620303 CNV gain 21293372
nsv1076144 CNV deletion 25765185
nsv1126130 CNV deletion 24896259
nsv509299 CNV insertion 20534489
nsv614143 CNV gain 21841781
nsv950853 CNV duplication 24416366
nsv957760 CNV deletion 24416366

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)

Relevant External Links for SMU1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. 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 22 64
  2. 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 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for SMU1 Gene

Sources for SMU1 Gene

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