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Aliases for SFMBT1 Gene

Aliases for SFMBT1 Gene

  • Scm-Like With Four Mbt Domains 1 2 3 5
  • Renal Ubiquitous Protein 1 3 4
  • HSFMBT 3 4
  • RU1 3 4
  • Scm-Related Gene Product Containing Four Mbt Domains 3
  • Scm-Related Gene Containing Four Mbt Domains 3
  • SFMBT 3

External Ids for SFMBT1 Gene

Previous GeneCards Identifiers for SFMBT1 Gene

  • GC03M052895

Summaries for SFMBT1 Gene

Entrez Gene Summary for SFMBT1 Gene

  • This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

GeneCards Summary for SFMBT1 Gene

SFMBT1 (Scm-Like With Four Mbt Domains 1) is a Protein Coding gene. GO annotations related to this gene include transcription corepressor activity and histone binding. An important paralog of this gene is L3MBTL1.

UniProtKB/Swiss-Prot for SFMBT1 Gene

  • Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFMBT1 Gene

Genomics for SFMBT1 Gene

Regulatory Elements for SFMBT1 Gene

Promoters for SFMBT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SFMBT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SFMBT1 Gene

Chromosome:
3
Start:
52,899,982 bp from pter
End:
53,046,750 bp from pter
Size:
146,769 bases
Orientation:
Minus strand

Genomic View for SFMBT1 Gene

Genes around SFMBT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFMBT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFMBT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFMBT1 Gene

Proteins for SFMBT1 Gene

  • Protein details for SFMBT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHJ3-SMBT1_HUMAN
    Recommended name:
    Scm-like with four MBT domains protein 1
    Protein Accession:
    Q9UHJ3
    Secondary Accessions:
    • Q402F7
    • Q96C73
    • Q9Y4Q9

    Protein attributes for SFMBT1 Gene

    Size:
    866 amino acids
    Molecular mass:
    98141 Da
    Quaternary structure:
    • Interacts with MYOD1 (By similarity). Component of the SLC (SFMBT1-LSD1-CoREST) corepressor complex, which also contains KDM1A/LSD1 and RCOR1/CoREST. Interacts with KDM1A/LSD1 and RCOR1/CoREST.

    Alternative splice isoforms for SFMBT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFMBT1 Gene

Proteomics data for SFMBT1 Gene at MOPED

Post-translational modifications for SFMBT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SFMBT1 Gene

Antibody Products

No data available for DME Specific Peptides for SFMBT1 Gene

Domains & Families for SFMBT1 Gene

Protein Domains for SFMBT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHJ3

UniProtKB/Swiss-Prot:

SMBT1_HUMAN :
  • The MBT repeats mediate binding to histones tails; however, in contrast to other MBT repeats, does not bind specific histone lysine modifications. The MBT repeats lack the conserved Asp and aromatic cage at conserved positions (PubMed:23592795).
  • Contains 4 MBT repeats.
Domain:
  • The MBT repeats mediate binding to histones tails; however, in contrast to other MBT repeats, does not bind specific histone lysine modifications. The MBT repeats lack the conserved Asp and aromatic cage at conserved positions (PubMed:23592795).
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 4 MBT repeats.
genes like me logo Genes that share domains with SFMBT1: view

Function for SFMBT1 Gene

Molecular function for SFMBT1 Gene

UniProtKB/Swiss-Prot Function:
Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis.
genes like me logo Genes that share phenotypes with SFMBT1: view

Animal Model Products

miRNA for SFMBT1 Gene

miRTarBase miRNAs that target SFMBT1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFMBT1 Gene

Localization for SFMBT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFMBT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SFMBT1 Gene COMPARTMENTS Subcellular localization image for SFMBT1 gene
Compartment Confidence
nucleus 5
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for SFMBT1 Gene

Pathways & Interactions for SFMBT1 Gene

SuperPathways for SFMBT1 Gene

No Data Available

Interacting Proteins for SFMBT1 Gene

Gene Ontology (GO) - Biological Process for SFMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016568 chromatin modification IEA --
GO:0030154 cell differentiation IEA --
GO:0048635 negative regulation of muscle organ development IMP 23349461
genes like me logo Genes that share ontologies with SFMBT1: view

No data available for Pathways by source and SIGNOR curated interactions for SFMBT1 Gene

Drugs & Compounds for SFMBT1 Gene

No Compound Related Data Available

Transcripts for SFMBT1 Gene

Unigene Clusters for SFMBT1 Gene

Scm-like with four mbt domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SFMBT1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2: -
SP3: - - - -
SP4:
SP5: - -
SP6: -

ExUns: 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SFMBT1 Gene

GeneLoc Exon Structure for
SFMBT1
ECgene alternative splicing isoforms for
SFMBT1

Expression for SFMBT1 Gene

mRNA expression in normal human tissues for SFMBT1 Gene

mRNA differential expression in normal tissues according to GTEx for SFMBT1 Gene

This gene is overexpressed in Testis (x6.6).

Protein differential expression in normal tissues from HIPED for SFMBT1 Gene

This gene is overexpressed in Adipocyte (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SFMBT1 Gene



SOURCE GeneReport for Unigene cluster for SFMBT1 Gene Hs.343679

mRNA Expression by UniProt/SwissProt for SFMBT1 Gene

Q9UHJ3-SMBT1_HUMAN
Tissue specificity: Expressed in all cell lines and normal tissues tested, including the thymus.
genes like me logo Genes that share expression patterns with SFMBT1: view

Protein tissue co-expression partners for SFMBT1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SFMBT1 Gene

Orthologs for SFMBT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SFMBT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SFMBT1 35
  • 92.52 (n)
  • 96.65 (a)
SFMBT1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SFMBT1 35
  • 92.19 (n)
  • 96.54 (a)
SFMBT1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sfmbt1 35
  • 87.06 (n)
  • 89.11 (a)
Sfmbt1 16
Sfmbt1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SFMBT1 35
  • 99.69 (n)
  • 99.65 (a)
SFMBT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfmbt1 35
  • 86.44 (n)
  • 88.88 (a)
oppossum
(Monodelphis domestica)
Mammalia SFMBT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFMBT1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFMBT1 35
  • 76.71 (n)
  • 79.1 (a)
SFMBT1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFMBT1 36
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sfmbt1 35
  • 63.47 (n)
  • 63.86 (a)
wufc12f05 35
sfmbt1 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lin-61 36
  • 17 (a)
ManyToMany
mbtr-1 36
  • 18 (a)
ManyToMany
Species with no ortholog for SFMBT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SFMBT1 Gene

ENSEMBL:
Gene Tree for SFMBT1 (if available)
TreeFam:
Gene Tree for SFMBT1 (if available)

Paralogs for SFMBT1 Gene

Paralogs for SFMBT1 Gene

(3) SIMAP similar genes for SFMBT1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SFMBT1: view

Variants for SFMBT1 Gene

Sequence variations from dbSNP and Humsavar for SFMBT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1134546 -- 52,903,758(-) AGTCA(C/T)GAGGA utr-variant-3-prime
rs1579059 -- 52,927,919(-) CCAGG(C/T)TCCAA intron-variant
rs2439434 -- 52,957,173(+) tatac(A/G)ccaac intron-variant
rs2245424 -- 52,969,005(+) AAAGA(C/G)CTTCC intron-variant
rs2246556 -- 52,993,967(+) TAAAG(C/T)AGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SFMBT1 Gene

Variant ID Type Subtype PubMed ID
esv2674619 CNV Deletion 23128226
esv1056402 CNV Deletion 17803354
nsv3823 CNV Loss 18451855
dgv1457e1 CNV Complex 17122850
nsv876799 CNV Loss 21882294
esv29989 CNV Loss 17803354
nsv517046 CNV Gain+Loss 19592680
nsv437713 CNV Loss 16327808
esv999683 CNV Deletion 20482838
esv26966 CNV Loss 19812545
esv2725281 CNV Deletion 23290073
nsv822093 CNV Loss 20364138
dgv107e180 CNV Loss 20482838
nsv499000 CNV Loss 21111241
dgv862e199 CNV Deletion 23128226
nsv514151 CNV Loss 21397061
nsv460538 CNV Loss 19166990
dgv603n27 CNV Loss 19166990
nsv818140 CNV Loss 17921354
esv2421449 CNV Deletion 20811451
nsv442860 CNV CNV 18776908
nsv438398 CNV Loss 16468122
nsv876800 CNV Loss 21882294
esv2489889 CNV Deletion 19546169
esv2672563 CNV Deletion 23128226
esv22089 CNV Loss 19812545
nsv822094 CNV Gain 20364138
esv2725282 CNV Deletion 23290073
esv2140307 CNV Deletion 18987734
esv2660654 CNV Deletion 23128226
esv2725283 CNV Deletion 23290073
esv26488 CNV Loss 19812545

Variation tolerance for SFMBT1 Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFMBT1 Gene

HapMap Linkage Disequilibrium report
SFMBT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFMBT1 Gene

Disorders for SFMBT1 Gene

Relevant External Links for SFMBT1

Genetic Association Database (GAD)
SFMBT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFMBT1

No disorders were found for SFMBT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFMBT1 Gene

Publications for SFMBT1 Gene

  1. Processing of some antigens by the standard proteasome but not by the immunoproteasome results in poor presentation by dendritic cells. (PMID: 10661410) Morel S. … Van den Eynde B.J. (Immunity 2000) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) KAPttgen A. … Gieger C. (Nat. Genet. 2013) 3
  5. Proteomic and functional analyses reveal the role of chromatin reader SFMBT1 in regulating epigenetic silencing and the myogenic gene program. (PMID: 23349461) Lin S. … Wu L. (J. Biol. Chem. 2013) 3

Products for SFMBT1 Gene

Sources for SFMBT1 Gene

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