SFMBT1 Gene
protein-coding GIFtS: 53
GCID: GC03M052913
|
|
Scm-like with four mbt domains 1
| |
Aliases
for SFMBT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Scm-Like With Four Mbt Domains 11 2 | | DKFZp434L2431 | | RU11 2 3 | | Scm-Like With Four MBT Domains Protein 12 | | SFMBT1 2 | | Scm-Related Gene Containing Four Mbt Domains2 | | Renal Ubiquitous Protein 12 3 | | Scm-Related Gene Product Containing Four Mbt Domains2 |
Export aliases for SFMBT1 gene to outside databasesPrevious GC identifer: GC03M052895 |
Summaries
for SFMBT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SFMBT1:
This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which containsfour malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. (provided by RefSeq, Jun2012)
|
Genomic Views
for SFMBT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SFMBT1 gene promoter:
Max1 AP-1 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SFMBT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFMBT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p21.31SFMBT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M052913: view genomic region
(about GC identifiers)
Start:
|
52,937,583 bp from pter |
End:
|
53,080,766 bp from pter |
Size:
|
143,184 bases |
Orientation:
|
minus strand |
|
Proteins
for SFMBT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SMBT1_HUMAN, Q9UHJ3 (See
protein sequence)Recommended Name: Scm-like with four MBT domains protein 1 Size: 866 amino acids; 98141 Da
Miscellaneous: Ubiquitous self-antigen
Secondary accessions: Q96C73 Q9Y4Q9Alternative splicing: 2 isoforms: Q9UHJ3-1 Q9UHJ3-2 Explore the universe of human proteins at neXtProt for SFMBT1: NX_Q9UHJ3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UHJ3
SFMBT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057413.2
ENSEMBL proteins: ENSP00000378235 ENSP00000418860 ENSP00000418950 ENSP00000419215 ENSP00000350789 ENSP00000296295 ENSP00000378233
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
SFMBT1 for ontologies About GeneDecksing
SFMBT1 Antibody Products:
Assay Products for SFMBT1: |
Protein
Domains /
Families
for SFMBT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SFMBT1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UHJ3ProtoNet protein and cluster: Q9UHJ3 1 Blocks protein family: IPB001660 Sterile alpha motif SAM
UniProtKB/Swiss-Prot: SMBT1_HUMAN, Q9UHJ3Similarity: Contains 4 MBT repeatsSimilarity: Contains 1 SAM (sterile alpha motif) domain |
Function
for SFMBT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SFMBT1 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SFMBT1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFMBT1 |
1 GenomeRNAi human phenotype for SFMBT1:
|
Pathways & Interactions
for SFMBT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SFMBT1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
5/37 Interacting proteins for SFMBT1 (Q9UHJ32, 3 ENSP000003507894) via UniProtKB, MINT, STRING, and/or I2D (see all 37)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
SFMBT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SFMBT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SFMBT1
Search CenterWatch for drugs/clinical trials and news about SFMBT1 / SMBT1
|
Transcripts
for SFMBT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SFMBT1 gene (3 alternative transcripts): NM_016329.3 NM_001005158.2 NM_001005159.2 Unigene Cluster for SFMBT1: Scm-like with four mbt domains 1 Hs.343679 [show with all ESTs]Unigene Representative Sequence: NM_01632911 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000394752(uc010hmr.3 uc003dgf.3 uc003dgg.3 uc003dgh.3)
ENST00000492146 ENST00000482396 ENST00000483069 ENST00000497586 ENST00000470575
ENST00000474837 ENST00000485494 ENST00000358080 ENST00000296295 ENST00000394750
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SFMBT1 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SFMBT1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): SFMBT1 (NM_001005159) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SFMBT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFMBT1 |
Additional cDNA sequence: AB189472.1 AF168132.1 AK313965.1 AL080140.1 BC014614.2 15 DOTS entries: DT.452381 DT.95254558 DT.99988193 DT.95366754 DT.120926962 DT.40109576 DT.100762142 DT.120927007 DT.100675225 DT.120926856 DT.120926932 DT.95366753 DT.99952317 DT.120926912 DT.95070975 24/121 AceView cDNA sequences (see all 121): AW903131 AI088345 R45541 AA284134 BQ581511 AA724915 AI910465 AA723155 BE502657 AA723178 CA454348 AI811206 AA858062 AA262837 AL080140 BG765590 AL523327 AA400743 AA705472 CA411693 BG768954 AA400642 BC014614 BU553665
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SFMBT1 (see all 6) About this scheme
| 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: | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24 |
|---|
|
| SP1: | | | |
| SP2: | | | |
| SP3: | | | |
| SP4: | | | |
| SP5: | | |
ECgene alternative splicing isoforms for SFMBT1
|
Expression
for SFMBT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SFMBT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACTTAAAAT
About this image
See SFMBT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SFMBT1
SOURCE GeneReport for Unigene cluster: Hs.343679
UniProtKB/Swiss-Prot: SMBT1_HUMAN, Q9UHJ3Tissue specificity: Expressed in all cell lines and normal tissues tested, including the thymus
SABiosciences Custom PCR Arrays for SFMBT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SFMBT1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFMBT1 |
Orthologs
for SFMBT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SFMBT1 gene from 5/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SFMBT11 |
Scm-like with four mbt domains 1 |
76.71(n)
79.1(a) |
|
415902 XM_414254.2 XP_414254.1 |
lizard
(Anolis carolinensis) |
Reptilia |
SFMBT16 |
-- |
76(a) |
1 ↔ 1 |
2(155130582-155164414) |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc12f052 |
Transcribed sequence with weak similarity to protein more |
72.99(n) |
|
57046738 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
31(a) |
possible ortholog |
GroupUn.2125(130-1597) |
worm
(Caenorhabditis elegans) |
Secernentea |
lin-616mbtr-16 |
abnormal cell LINeage family member (lin-61)MBT (Malignant Brain Tumor) Repeat containing prot... |
16(a)16(a) |
possible orthologpossible ortholog |
I(7248826-7251280) I(343253-348367) |
ENSEMBL Gene Tree for SFMBT1 (if available)
TreeFam Gene Tree for SFMBT1 (if available) |
Paralogs
for SFMBT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SFMBT1 gene
- L3MBTL12 SCML42 L3MBTL22 ENSG000002605272 L3MBTL32 L3MBTL42 MBTD12 SCMH12
- SFMBT22 SCML22
4 SIMAP similar genes for SFMBT1 using alignment to 4 protein entries: SMBT1_HUMAN (see all proteins):SFMBT SFMBT2 MBTD1 L3MBTL4
SFMBT1 for paralogs About GeneDecksing
|
Genomic Variants
for SFMBT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SFMBT1 (52937583 - 53080766 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 22 variations for SFMBT1
15/17 CNVs (see all 17): 98314 36155 51116 37908 23276 37421 51118 63469 68377 51117 51114 1622 51115 9994 1366
5 Indels: 27335 46421 91307 63470 79766 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SFMBT1 |
|
Disorders
/ Diseases
for SFMBT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SFMBT1 for disorders About GeneDecksing
OMIM gene information: 607319
OMIM disorders: --
4  diseases for SFMBT1: About MalaCardsnormal pressure hydrocephalus acute poststreptococcal glomerulonephritis glomerulonephritis hydrocephalus
2 diseases from the University of Copenhagen DISEASES database for SFMBT1:Normal pressure hydrocephalus Acute poststreptococcal glomerulonephritis Export disorders for SFMBT1 gene to outside databases
|
Publications
for SFMBT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SFMBT1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SFMBT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Processing of some antigens by the standard proteasome but not by the immunoproteasome results in poor presentation by dendritic cells. (PubMed id 10661410)1, 2, 3 Morel S.... Van den Eynde B.J. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as hy pertension susceptibility genes in Han Chinese with a genome-wide gene-based ass ociation study. (PubMed id 22479346)1 Yang H.C....Pan W.H. (2012)
- Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: a community-based study. (PubMed id 21325761)1 Kato T....Kawanami T. (2011)
- Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of histone H3. (PubMed id 17599839)1 Wu S....Rice J.C. (2007)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
|
External Searches for SFMBT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SFMBT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SFMBT1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SFMBT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for SFMBT1 gene:
Search GeneIP for patents involving SFMBT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SFMBT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | | OriGene Custom Antibody Services for SFMBT1 | | OriGene Custom Protein Services for SFMBT1 | | | OriGene Custom Immunoassay Development | | |
| |
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| |
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| |  |  |  |  | | | | |
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 |
 |
 | | | SFMBT1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFMBT1 |
|  |  |  | | | | ThermoFisher Antibodies for SFMBT1 |
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|
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|
