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Aliases for SMU1 Gene

Aliases for SMU1 Gene

  • SMU1, DNA Replication Regulator And Spliceosomal Factor 2 3 5
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Protein Homolog 3 4
  • DNA Replication Regulator And Spliceosomal Factor 2 3
  • 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 (SMU1, DNA Replication Regulator And Spliceosomal Factor) is a Protein Coding gene. Diseases associated with SMU1 include Influenza. An important paralog of this gene is APAF1.

UniProtKB/Swiss-Prot for SMU1 Gene

  • Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis (PubMed:15878348). Required for normal accumulation of IK (PubMed:24945353).

  • (Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.

Gene Wiki entry for SMU1 Gene

Additional gene information for SMU1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMU1 Gene

Genomics for SMU1 Gene

GeneHancer (GH) Regulatory Elements for SMU1 Gene

Promoters and enhancers for SMU1 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
GH09I033075 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563 +0.2 243 2.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 ZNF143 SMU1 B4GALT1 NOL6 NFX1 ANXA2P2 BAG1 CHMP5 TOPORS B4GALT1-AS1 RNU4ATAC15P
GH09I033472 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 109.3 -396.8 -396841 2.9 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 NOL6 NFX1 TOPORS ASS1P12 SMU1 TCEA1P4 ENSG00000228352 DFFBP1 ENSG00000223440 UBAP2
GH09I034046 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 43 -972.0 -972020 3.9 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 UBAP2 RN7SKP114 SMU1 ENSG00000228352 NFX1 NOL6 B4GALT1 UBE2R2 PRSS3 ENSG00000260947
GH09I032571 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 34.1 +503.9 503893 2.8 HNRNPUL1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 NDUFB6 SMU1 DFFBP1 DDX58 TOPORS B4GALT1 APTX DNAJA1 ASS1P12
GH09I033867 Enhancer 1.2 Ensembl ENCODE dbSUPER 54.9 -791.8 -791785 1.8 ZFP64 ZNF213 ZNF354C ZNF202 ZNF680 ZNF654 ZBTB11 CEBPB ZC3H11A REST GC09P034128 RNU4ATAC11P ASS1P12 NOL6 NFX1 ENSG00000228352 SMU1 TCEA1P4 UBAP2 ENSG00000230074
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMU1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMU1 gene promoter:

Genomic Locations for SMU1 Gene

Genomic Locations for SMU1 Gene
chr9:33,041,764-33,076,716
(GRCh38/hg38)
Size:
34,953 bases
Orientation:
Minus strand
chr9:33,041,762-33,076,714
(GRCh37/hg19)

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:
    • Interacts with IK (PubMed:22365833, PubMed:24945353). Probable component of the spliceosome B complex (PubMed:22365833).
    • (Microbial infection) Identified in a complex with IK and influenza A virus RNA polymerase subunits PB1 and PB2; does not directly interact with the viral proteins by itself.

    Three dimensional structures from OCA and Proteopedia for SMU1 Gene

    Alternative splice isoforms for SMU1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMU1 Gene

Post-translational modifications for SMU1 Gene

  • Ubiquitination at posLast=1919, posLast=107107, isoforms=2194, isoforms=2200, and isoforms=2379

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

Q2TAY7

UniProtKB/Swiss-Prot:

SMU1_HUMAN :
  • The WD repeats assemble into a seven-bladed WD propeller.
  • Belongs to the WD repeat SMU1 family.
Domain:
  • The WD repeats assemble into a seven-bladed WD propeller.
Family:
  • Belongs to the WD repeat SMU1 family.
genes like me logo Genes that share domains with SMU1: view

Function for SMU1 Gene

Molecular function for SMU1 Gene

UniProtKB/Swiss-Prot Function:
Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis (PubMed:15878348). Required for normal accumulation of IK (PubMed:24945353).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles.

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

miRNA for SMU1 Gene

miRTarBase miRNAs that target SMU1

Clone Products

No data available for 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. Nucleus speckle. Note=Colocalizes with SRSF1 in nuclear speckles. {ECO:0000250 UniProtKB:Q76B40}.

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 5
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 --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
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

Unigene Clusters for SMU1 Gene

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

Clone Products

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(4.2)
genes like me logo Genes that share expression patterns with SMU1: view

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 Variation AA Info Type
rs1000142120 -- 33,071,495(-) A/G intron_variant
rs1000266963 -- 33,075,308(-) C/T intron_variant
rs1000333110 -- 33,069,072(-) G/A intron_variant
rs1000387602 -- 33,044,290(-) T/C 3_prime_UTR_variant
rs1000392733 -- 33,055,340(-) CTGTCTG/CTG intron_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for SMU1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
influenza
  • flu
- elite association - COSMIC cancer census association via MalaCards
Search SMU1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMU1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMU1: view

No data available for 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 CA … Herman RK (Molecular and cellular biology 2001) 2 3 22 58
  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 AJ … Glavan BJ (Gene 2001) 2 3 22 58
  3. Recruitment of RED-SMU1 complex by Influenza A Virus RNA polymerase to control Viral mRNA splicing. (PMID: 24945353) Fournier G … Naffakh N (PLoS pathogens 2014) 3 4 58
  4. Dynamic protein-protein interaction wiring of the human spliceosome. (PMID: 22365833) Hegele A … Stelzl U (Molecular cell 2012) 3 4 58
  5. 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

Products for SMU1 Gene

Sources for SMU1 Gene

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