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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
  • Smu-1 Suppressor Of Mec-8 And Unc-52 Protein Homolog 3 4
  • Functional Spliceosome-Associated Protein 57 2 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 (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

Genomic Location for SMU1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SMU1 Gene at MOPED

Post-translational modifications for SMU1 Gene

  • Ubiquitination at Lys19, Lys107, 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 for SMU1 Gene

Gene Families for SMU1 Gene

HGNC:
  • WDR :WD repeat domain containing

Graphical View of Domain Structure for InterPro Entry

Q2TAY7

UniProtKB/Swiss-Prot:

SMU1_HUMAN :
  • Q2TAY7
Domain:
  • Contains 1 CTLH domain.
  • Contains 1 LisH domain.
Family:
  • Belongs to the WD repeat SMU1 family.
Similarity:
  • Contains 6 WD repeats.
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

miRNA for SMU1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SMU1 Gene COMPARTMENTS Subcellular localization image for SMU1 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1

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 for SMU1 Gene

SuperPathways for SMU1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMU1 Gene

None

No data available for Pathways by source for SMU1 Gene

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:

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 for SMU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with SMU1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SMU1 35
  • 99.94 (n)
  • 100 (a)
SMU1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMU1 35
  • 93.7 (n)
  • 100 (a)
SMU1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMU1 35
  • 94.67 (n)
  • 99.81 (a)
SMU1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smu1 35
  • 91.36 (n)
  • 100 (a)
Smu1 16
Smu1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMU1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smu1 35
  • 90.58 (n)
  • 99.61 (a)
chicken
(Gallus gallus)
Aves SMU1 35
  • 83.95 (n)
  • 99.61 (a)
SMU1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMU1 36
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7709 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75979 35
smu1 35
  • 82.52 (n)
  • 98.64 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.58 35
zebrafish
(Danio rerio)
Actinopterygii SMU1 (2 of 2) 36
  • 72 (a)
OneToMany
smu1a 35
  • 79.73 (n)
  • 95.52 (a)
smu1a 36
  • 96 (a)
OneToMany
zgc56147 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001414 35
  • 67.65 (n)
  • 81.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5451 36
  • 79 (a)
OneToOne
Smu1 35
  • 68.24 (n)
  • 78.59 (a)
worm
(Caenorhabditis elegans)
Secernentea smu-1 35
  • 59.34 (n)
  • 62.77 (a)
smu-1 36
  • 62 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9666 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SMU1 35
  • 63.08 (n)
  • 64.97 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6440 35
corn
(Zea mays)
Liliopsida Zm.5872 35
rice
(Oryza sativa)
Liliopsida Os.1113 35
Os01g0322800 35
  • 61.77 (n)
  • 65.36 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5089 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3735 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8469 36
  • 77 (a)
OneToOne
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

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

Paralogs for SMU1 Gene

Selected 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 MAF
rs1048229 -- 33,054,314(-) TTGAg(C/T)caggc intron-variant
rs1129912 -- 33,054,276(-) CTCAG(A/G)AGGCT intron-variant
rs1411610 -- 33,071,333(-) TTCTT(A/C)GCGGA intron-variant
rs1537039 -- 33,061,718(-) CTTCT(C/T)CTGTT intron-variant
rs1537040 -- 33,061,442(-) AAATA(C/T)TTCAT 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

Relevant External Links for SMU1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with SMU1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SMU1 Gene

Sources for SMU1 Gene

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