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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
  • Scm-Like With Four MBT Domains Protein 1 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 SFMBT2.

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

Enhancers for SFMBT1 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
GH03F053043 0.9 ENCODE 16.9 +1.5 1461 3.9 CREB3L1 GLIS2 ELK1 ZNF143 ZNF263 SMARCA4 NBN CTCF ASH2L ZFHX2 ITIH4 SFMBT1 RFT1 PRKCD ITIH3 GC03P053048 LOC105377135
GH03F053268 1.7 FANTOM5 Ensembl ENCODE 4.7 -223.4 -223351 4.2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS KLF13 DEK PRKCD WDR82 ENSG00000207109 TKT SFMBT1 DCP1A GC03M053284 PIR47365
GH03F053129 1.1 ENCODE 4.3 -83.9 -83928 3.0 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 RFT1 SFMBT1 PIR59540
GH03F053258 1 Ensembl ENCODE 4.6 -212.9 -212880 1.9 SOX13 MXI1 SAP130 ARID4B DMAP1 ZNF48 ZNF644 RARA TEAD3 POLR2A TKT WDR82 SFMBT1 PIR47365 GC03M053284
GH03F052719 0.9 Ensembl ENCODE 5 +325.3 325303 3.1 CBX3 ZNF680 MAX ZNF316 CBX5 EED TRIM24 MYC MAFK ZNF558 PBRM1 GNL3 SNORD69 ENSG00000222345 ENSG00000252787 SNORD19 SNORD19B ITIH1 STAB1 SFMBT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SFMBT1 on UCSC Golden Path with GeneCards custom track

Promoters for SFMBT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001675081 1050 3001 CREB3L1 ZNF76 RAD21 ELK1 EGR1 SCRT2 ZNF143 EGR2 ZNF263 USF2

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

Post-translational modifications for SFMBT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for SFMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 23592795
GO:0005515 protein binding IPI 16189514
GO:0042393 histone binding IDA 17599839
genes like me logo Genes that share ontologies with SFMBT1: view
genes like me logo Genes that share phenotypes with SFMBT1: view

Animal Model Products

miRNA for SFMBT1 Gene

miRTarBase miRNAs that target SFMBT1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SFMBT1 gene
Compartment Confidence
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SFMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17599839
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with SFMBT1: view

Pathways & Interactions for SFMBT1 Gene

SuperPathways for SFMBT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007283 spermatogenesis IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0030154 cell differentiation IEA --
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

Transcripts for SFMBT1 Gene

Unigene Clusters for SFMBT1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SFMBT1 Gene



Protein tissue co-expression partners for SFMBT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SFMBT1 Gene:

SFMBT1

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SFMBT1 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia SFMBT1 34 35
  • 92.52 (n)
dog
(Canis familiaris)
Mammalia SFMBT1 34 35
  • 92.19 (n)
mouse
(Mus musculus)
Mammalia Sfmbt1 34 16 35
  • 87.06 (n)
rat
(Rattus norvegicus)
Mammalia Sfmbt1 34
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SFMBT1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFMBT1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFMBT1 34 35
  • 76.71 (n)
lizard
(Anolis carolinensis)
Reptilia SFMBT1 35
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sfmbt1 34 35
  • 63.47 (n)
wufc12f05 34
worm
(Caenorhabditis elegans)
Secernentea mbtr-1 35
  • 18 (a)
ManyToMany
lin-61 35
  • 17 (a)
ManyToMany
Species where no ortholog for SFMBT1 was found in the sources mined by GeneCards:
  • 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
rs10510761 -- 52,931,239(+) TGGCT(C/T)TATGA intron-variant
rs10510762 -- 53,040,330(+) ATTGA(A/T)TATCA intron-variant
rs1056252 -- 53,030,634(-) GTGAA(A/G)GGGAC intron-variant
rs1056254 -- 53,030,517(-) ATTAC(A/T)TTTTC intron-variant
rs10576412 -- 53,014,513(+) AAACA(-/AAACAAAACA)GTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3584785 CNV loss 24956385
esv3568758 CNV loss 25503493
esv3568751 CNV loss 25503493
esv3568750 CNV loss 25503493
esv3561890 CNV deletion 23714750
esv3330275 CNV insertion 20981092
esv29989 CNV loss 17803354
esv2763768 CNV loss 21179565
esv2762328 CNV loss 21179565
esv2760749 CNV loss 21179565
esv2759149 CNV loss 17122850
esv2725283 CNV deletion 23290073
esv2725282 CNV deletion 23290073
esv2725281 CNV deletion 23290073
esv26966 CNV loss 19812545
esv2674619 CNV deletion 23128226
esv2672563 CNV deletion 23128226
esv2660654 CNV deletion 23128226
esv26488 CNV loss 19812545
esv2489889 CNV deletion 19546169
esv2421449 CNV deletion 20811451
esv22089 CNV loss 19812545
esv2140307 CNV deletion 18987734
esv1056402 CNV deletion 17803354
dgv862e199 CNV deletion 23128226
dgv8336n54 CNV gain 21841781
dgv8335n54 CNV gain+loss 21841781
dgv8334n54 CNV loss 21841781
dgv8333n54 CNV loss 21841781
dgv8332n54 CNV loss 21841781
dgv8331n54 CNV loss 21841781
dgv8330n54 CNV loss 21841781
dgv8329n54 CNV loss 21841781
dgv8328n54 CNV loss 21841781
dgv8327n54 CNV loss 21841781
dgv603n27 CNV loss 19166990
dgv4744n100 CNV loss 25217958
dgv4743n100 CNV loss 25217958
dgv4742n100 CNV loss 25217958
dgv4741n100 CNV loss 25217958
dgv4740n100 CNV loss 25217958
dgv4739n100 CNV loss 25217958
dgv21e209 CNV deletion 24192839
dgv177n111 CNV deletion 26073780
dgv1375e212 CNV loss 25503493
dgv107e180 CNV loss 20482838
nsv999427 CNV gain 25217958
nsv998445 CNV loss 25217958
nsv822094 CNV gain 20364138
nsv822093 CNV loss 20364138
nsv818140 CNV loss 17921354
nsv590347 CNV gain 21841781
nsv517046 CNV gain+loss 19592680
nsv514151 CNV loss 21397061
nsv499000 CNV loss 21111241
nsv460538 CNV loss 19166990
nsv442860 CNV loss 18776908
nsv438398 CNV loss 16468122
nsv437713 CNV loss 16327808
nsv3823 CNV deletion 18451855
nsv1160941 CNV deletion 26073780
nsv1160938 CNV deletion 26073780
nsv1144990 CNV deletion 24896259
nsv1135917 CNV deletion 24896259
nsv1000857 CNV gain 25217958
nsv1000733 CNV gain 25217958
esv999683 CNV deletion 20482838
esv3893696 CNV loss 25118596
esv3893695 CNV loss 25118596
esv3596165 CNV loss 21293372
esv3596164 CNV loss 21293372

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. 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 4 64
  3. SFMBT1 functions with LSD1 to regulate expression of canonical histone genes and chromatin-related factors. (PMID: 23592795) Zhang J. … Reinberg D. (Genes Dev. 2013) 3 4 64
  4. Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of histone H3. (PMID: 17599839) Wu S. … Rice J.C. (FEBS Lett. 2007) 3 4 64
  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 64

Products for SFMBT1 Gene

Sources for SFMBT1 Gene

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