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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 RACK1.

Gene Wiki entry for SMU1 Gene

Additional gene information 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
GH09H033472 1.4 ENCODE dbSUPER 99.2 -396.8 -396837 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF302 ZNF143 TOPORS NFX1 NOL6 SMU1 ASS1P12 TCEA1P4 ENSG00000228352 ENSG00000223440 DFFBP1 UBAP2
GH09H033867 1.3 Ensembl ENCODE dbSUPER 44.8 -791.8 -791785 1 ZFP64 ZNF354C ZNF202 ZNF654 ZNF680 ZC3H11A CEBPB REST ZNF518A ZNF781 NOL6 ASS1P12 NFX1 ENSG00000228352 SMU1 TCEA1P4 UBAP2 ENSG00000230074 FAM205A APTX
GH09H033226 1.5 Ensembl ENCODE dbSUPER 23.8 -155.3 -155276 10 PKNOX1 FOXA2 ARID4B SIN3A BRCA1 ZBTB7B ZNF121 GLIS2 ATF7 FOS SMU1 NFX1 BAG1 CHMP5 B4GALT1 B4GALT1-AS1 RNU4ATAC15P DFFBP1 SPINK4 GC09P033251
GH09H033023 1.1 ENCODE 30.8 +51.2 51237 4 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 TOPORS SMU1 ENSG00000223440 ASS1P12 APTX DFFBP1 DDX58 B4GALT1 NOL6 LAGE3P1
GH09H033156 1.8 FANTOM5 ENCODE dbSUPER 16.2 -86.2 -86162 13 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 B4GALT1 NFX1 NOL6 SMU1 ASS1P12 TOPORS ENSG00000228352 DFFBP1 UBAP2 TCEA1P4
- 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 ZNF143 ZNF207 SP3 SP5

Genomic Location for SMU1 Gene

Chromosome:
9
Start:
33,041,764 bp from pter
End:
33,076,716 bp from pter
Size:
34,953 bases
Orientation:
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:
    Q2TAY7-SMU1_HUMAN
    Recommended name:
    WD40 repeat-containing protein SMU1
    Protein Accession:
    Q2TAY7
    Secondary Accessions:
    • B4E3L0
    • Q9BU59
    • Q9HA96
    • Q9NVD1

    Protein attributes for SMU1 Gene

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

    Alternative splice isoforms for SMU1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMU1 Gene

Post-translational modifications for SMU1 Gene

  • Ubiquitination at isoforms=19, isoforms=107, Lys194, Lys200, and Lys379
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q2TAY7

UniProtKB/Swiss-Prot:

SMU1_HUMAN :
  • Belongs to the WD repeat SMU1 family.
Family:
  • Belongs to the WD repeat SMU1 family.
genes like me logo Genes that share domains with SMU1: view

Function for SMU1 Gene

Phenotypes From GWAS Catalog 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
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 SMU1 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck ISS --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome ISS --
genes like me logo Genes that share ontologies with SMU1: view

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
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for SMU1 Gene

GeneLoc Exon Structure for
SMU1
ECgene alternative splicing isoforms for
SMU1

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:

SMU1

SOURCE GeneReport for Unigene cluster for SMU1 Gene:

Hs.655351

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
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMU1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMU1 33 34
  • 99.94 (n)
dog
(Canis familiaris)
Mammalia SMU1 33 34
  • 94.67 (n)
cow
(Bos Taurus)
Mammalia SMU1 33 34
  • 93.7 (n)
mouse
(Mus musculus)
Mammalia Smu1 33 16 34
  • 91.36 (n)
rat
(Rattus norvegicus)
Mammalia Smu1 33
  • 90.58 (n)
chicken
(Gallus gallus)
Aves SMU1 33 34
  • 83.95 (n)
lizard
(Anolis carolinensis)
Reptilia SMU1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smu1 33
  • 82.52 (n)
MGC75979 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7709 33
zebrafish
(Danio rerio)
Actinopterygii smu1a 33 34
  • 79.73 (n)
SMU1 (2 of 2) 34
  • 72 (a)
OneToMany
zgc56147 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.58 33
fruit fly
(Drosophila melanogaster)
Insecta CG5451 34
  • 79 (a)
OneToOne
Smu1 33
  • 68.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001414 33
  • 67.65 (n)
worm
(Caenorhabditis elegans)
Secernentea smu-1 33 34
  • 59.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SMU1 33
  • 63.08 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9666 33
rice
(Oryza sativa)
Liliopsida Os01g0322800 33
  • 61.77 (n)
Os.1113 33
barley
(Hordeum vulgare)
Liliopsida Hv.6440 33
wheat
(Triticum aestivum)
Liliopsida Ta.5089 33
corn
(Zea mays)
Liliopsida Zm.5872 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8469 34
  • 77 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3735 33
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

ENSEMBL:
Gene Tree for SMU1 (if available)
TreeFam:
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.org 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
SMU1

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)
SMU1
Human Genome Epidemiology (HuGE) Navigator
SMU1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMU1

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 AJ … Glavan BJ (Gene 2001) 2 3 22 60
  2. Analysis of smu-1, a gene that regulates the alternative splicing of unc-52 pre-mRNA in Caenorhabditis elegans. (PMID: 11438655) Spike CA … Herman RK (Molecular and cellular biology 2001) 2 3 22 60
  3. 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 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60

Products for SMU1 Gene

Sources for SMU1 Gene

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