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SBF1 Gene

protein-coding   GIFtS: 59
GCID: GC22M050885

SET Binding Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SET Binding Factor 11 2     CMT4B32 5
MTMR52 3 5     DENND7A2
DENN/MADD Domain Containing 7A1 2     Myotubularin-Related Protein 52
Myotubularin Related 51 2     Sbf13
SET-Binding Factor 12 3     

External Ids:    HGNC: 105421   Entrez Gene: 63052   Ensembl: ENSG000001002417   OMIM: 6035605   UniProtKB: O952483   

Export aliases for SBF1 gene to outside databases

Previous GC identifers: GC22M047389 GC22M049017 GC22M049175 GC22M033773


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SBF1 Gene:
SBF1 (SET binding factor 1) is a protein-coding gene. Diseases associated with SBF1 include charcot-marie-tooth disease, type 4b3, and early-onset glaucoma. GO annotations related to this gene include phospholipid binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR5_HUMAN, O95248
Function: Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it
catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated
substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces
oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide
exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab
proteins into their active GTP-bound form

Gene Wiki entry for SBF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011526.8  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SBF1 gene promoter:
         ER-alpha   Egr-3   RelA   AP-2gamma   E4BP4   LCR-F1   C/EBPalpha   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SBF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SBF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

SBF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SBF1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050885:  view genomic region     (about GC identifiers)

Start:
50,883,429 bp from pter      End:
50,913,464 bp from pter
Size:
30,036 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTMR5_HUMAN, O95248 (See protein sequence)
Recommended Name: Myotubularin-related protein 5  
Size: 1867 amino acids; 208315 Da
Subunit: Interacts with the SET domain of KMT2A/MLL1. Interacts with SUV39H1
Sequence caution: Sequence=AAC39675.1; Type=Frameshift; Positions=1603, 1627, 1631, 1864;
Secondary accessions: A6PVG9 O60228 Q5JXD8 Q5PPM2 Q96GR9 Q9UGB8
Alternative splicing: 2 isoforms:  O95248-1   O95248-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SBF1: NX_O95248

Explore proteomics data for SBF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SBF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002963.2  
    ENSEMBL proteins: 
     ENSP00000370196   ENSP00000252027   ENSP00000401538   ENSP00000375097  

    SBF1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SBF1 Antibody Products:

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    Search for Antibodies for SBF1 at Abcam
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    ThermoFisher Antibodies for SBF1
    LSBio Antibodies in human, mouse, rat for SBF1

    SBF1 Assay Products:

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    GenScript Custom Assay Services for SBF1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    DENND: DENN/MADD domain containing
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    Selected InterPro protein domains (see all 9):
     IPR005112 dDENN_dom
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry O95248

    ProtoNet protein and cluster: O95248

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: MTMR5_HUMAN, O95248
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 1 myotubularin phosphatase domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 uDENN domain


    SBF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTMR5_HUMAN, O95248
    Function: Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it
    catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated
    substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces
    oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide
    exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab
    proteins into their active GTP-bound form

         Genatlas biochemistry entry for SBF1:
    SET binding factor 1,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008138protein tyrosine/serine/threonine phosphatase activity TAS9736772
    GO:0016791phosphatase activity ----
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
         
    SBF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SBF1:
     Increased apoptosis 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sbf1):
     endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  reproductive system 

    SBF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sbf1tm1Mlc for SBF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SBF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SBF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SBF1

    miRNA
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    miRTarBase miRNAs that target SBF1:
    hsa-mir-23b-3p (MIRT046284), hsa-mir-744-5p (MIRT037625), hsa-mir-503-5p (MIRT041127), hsa-mir-324-3p (MIRT042986), hsa-mir-196a-5p (MIRT048226), hsa-mir-346 (MIRT042710), hsa-mir-320a (MIRT044578), hsa-mir-877-3p (MIRT037199), hsa-mir-296-3p (MIRT038372), hsa-mir-16-5p (MIRT051209), hsa-mir-149-5p (MIRT045439)

    Block miRNA regulation of human, mouse, rat SBF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SBF1 (see all 36):
    hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-429 hsa-miR-30d hsa-miR-372 hsa-miR-30a hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidSBF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SBF1

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    GenScript: all cDNA clones in your preferred vector: SBF1 (NM_002972)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SBF1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTMR5_HUMAN, O95248: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0016021integral component of membrane TAS9736772

    SBF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SBF1
    Interactions:

        GeneGlobe Interaction Network for SBF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for SBF1 (O952482, 3 ENSP000003750974) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDPK1O155302, 3MINT-8265599 I2D: score=2 
    TNFSF11O147882, 3, ENSP000002398494MINT-8274753 I2D: score=2 STRING: ENSP00000239849
    MTMR2Q136143, ENSP000003457524I2D: score=4 STRING: ENSP00000345752
    SIRT3Q9NTG73, ENSP000003721914I2D: score=2 STRING: ENSP00000372191
    SUV39H1O434633, ENSP000003658774I2D: score=2 STRING: ENSP00000365877
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS9736772
    GO:0007283spermatogenesis IEA--
    GO:0008219cell death IEA--
    GO:0016311dephosphorylation ----
    GO:0032313regulation of Rab GTPase activity IDA--

    SBF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SBF1 (MTMR5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SBF1 gene: 
    NM_002972.2  

    Unigene Cluster for SBF1:

    SET binding factor 1
    Hs.589924  [show with all ESTs]
    Unigene Representative Sequence: NM_002972
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380817(uc003ble.3 uc011arx.2 uc003blh.3) ENST00000348911
    ENST00000418590 ENST00000470434 ENST00000473724 ENST00000476293 ENST00000477234
    ENST00000399627 ENST00000390679(uc003bli.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat SBF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SBF1 (see all 36):
    hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-429 hsa-miR-30d hsa-miR-372 hsa-miR-30a hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidSBF1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SBF1
    Predesigned siRNA for gene silencing in human, mouse, rat SBF1
    Clone
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    OriGene clones in human, mouse for SBF1 (see all 9)
    OriGene ORF clones in mouse, rat for SBF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SBF1 (NM_002972)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SBF1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SBF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SBF1
      QuantiTect SYBR Green Assays in human, mouse, rat SBF1
      QuantiFast Probe-based Assays in human, mouse, rat SBF1

    Additional mRNA sequence: 

    AB209682.1 AF072929.1 AK057985.1 BC009268.1 BC024101.1 BC040031.1 BC046169.2 BC056915.1 
    BC087612.1 BC111424.1 CR749672.1 U93181.1 

    Selected DOTS entries (see all 27):

    DT.101985092  DT.101969523  DT.92003502  DT.100678079  DT.101985091  DT.317388  DT.100796866  DT.100887349 
    DT.91938406  DT.95218226  DT.100017313  DT.100761182  DT.100887348  DT.100668018  DT.91754729  DT.120634439 
    DT.120634469  DT.95249523  DT.99927098  DT.100887342  DT.120634512  DT.317390  DT.448541  DT.91746969 

    Selected AceView cDNA sequences (see all 352):

    BQ643221 CA308052 CR749672 CF265134 AW203968 AA769368 AA019605 BU072953 
    CR622844 CF137903 AI681686 BU197243 AA743798 BM006725 BC046169 BM012525 
    AA282301 CK825122 AW149357 BC009268 Z41182 CF137940 BE465321 BQ776759 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SBF1 (see all 10)    About this scheme

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

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b · 35c ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^
    SP1:                                            -                       -                                                                                       
    SP2:                                      -     -                       -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -     -                           
    SP5:                                                                    -                                   -                                                   

    ExUns: 40 ^ 41a · 41b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SBF1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SBF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACAGCCC
    SBF1 Expression
    About this image

    SBF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SBF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.589924
        Custom PCR Arrays for SBF1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBF1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SBF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sbf11 , 5 SET binding factor 11, 5 87.29(n)1
    94.77(a)1
      15 (44.79 cM)5
    779801  NM_001170561.11  NP_001164032.11 
     892882365 
    chicken
    (Gallus gallus)
    Aves SBF11 SET binding factor 1 76.68(n)
    76.98(a)
      417071  XM_415358.4  XP_415358.4 
    lizard
    (Anolis carolinensis)
    Reptilia SBF16
    SET binding factor 1
    75(a)
    1 ↔ 1
    GL343855.1(138442-160048)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sbf11 SET binding factor 1 66.79(n)
    73.14(a)
      100125154  NM_001123021.1  NP_001116493.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbf11 SET binding factor 1 70.48(n)
    72.55(a)
      568277  NM_001045158.1  NP_001038623.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sbf3 protein tyrosine/serine/threonine
    phosphatase
    38(a)   86F8   --
    worm
    (Caenorhabditis elegans)
    Secernentea H28G03.63   -- 26(a)   X(5270234-5278666)   --


    ENSEMBL Gene Tree for SBF1 (if available)
    TreeFam Gene Tree for SBF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SBF1 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    MTMR62  SBF22  MTMR92  MTMR112  MTMR12  
    4 SIMAP similar genes for SBF1 using alignment to 5 protein entries:     MTMR5_HUMAN (see all proteins):
    DKFZp761D0422    SBF2    DKFZp666I2310    DKFZp667L246

    SBF1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SBF1
    PGOHUM00000244600 PGOHUM00000249347


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SBF1 (see all 1184)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700464
    Charcot-Marie-Tooth disease 4B3 (CMT4B3)4--see VAR_0700462 M V mis40--------
    VAR_0700474
    Charcot-Marie-Tooth disease 4B3 (CMT4B3)4--see VAR_0700472 T A mis40--------
    rs7430381,2
    C,F,O,A,H--50884075(-) TGACCG/AAAGTT 1 -- ut3126Minor allele frequency- A:0.42NA MN NS EA WA CSA 2554
    rs1860700291,2
    --50884153(+) ATCTCA/GCCCAG 1 -- ut310--------
    rs1481223311,2
    C--50884218(+) ACAGGA/GTCCAA 1 -- ut310--------
    rs1910289641,2
    --50884239(+) GGCTTC/TAACGT 1 -- ut310--------
    rs1473043511,2
    --50884298(+) CCTCTA/GCAGCT 1 -- ut310--------
    rs1441723141,2
    C--50884346(+) GCCTC-/CCACC 
    TGAGAGGA
    CCACC
    1 -- ut310--------
    rs1466504881,2
    --50884355(+) CTGAG-/AGGACC 1 -- ut310--------
    rs798942641,2
    C--50884483(+) ACCTTC/TTGCTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SBF1 (50883429 - 50913464 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SBF1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv914541CNV Loss21882294
    nsv915495CNV Loss21882294
    nsv914544CNV Loss21882294
    dgv5062n71CNV Loss21882294
    nsv834238CNV Loss17160897
    nsv914543CNV Loss21882294
    nsv914525CNV Loss21882294
    dgv5063n71CNV Loss21882294
    nsv471224CNV Loss18288195
    nsv914542CNV Loss21882294

    Human Gene Mutation Database (HGMD): SBF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SBF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SBF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603560   
    OMIM disorders: 615284  
    UniProtKB/Swiss-Prot: MTMR5_HUMAN, O95248
  • Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for SBF1:    
    About MalaCards
    charcot-marie-tooth disease, type 4b3    early-onset glaucoma    charcot-marie-tooth disease type 4b2    charcot-marie-tooth disease type 4
    centronuclear myopathy    tooth disease    charcot-marie-tooth disease    myopathy
    male infertility    azoospermia    infertility    glaucoma
    hypertension

    1 disease from the University of Copenhagen DISEASES database for SBF1:
    Centronuclear myopathy

    SBF1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SBF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    centronuclear myopathy 90.4 1 9537414 (1)
    myopathy 47.9 1 9689104 (1)

    Genetic Association Database (GAD): SBF1
    Human Genome Epidemiology (HuGE) Navigator: SBF1 (3 documents)

    Export disorders for SBF1 gene to outside databases

    (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)
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    PubMed articles for SBF1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SBF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of SET domain and myotubularin-related proteins modulates growth control. (PubMed id 9537414)1, 2, 3, 9 Cui X.... Cleary M.L. (Nat. Genet. 1998)
    2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 2, 3 Laporte J....Mandel J.-L. (Hum. Mol. Genet. 1998)
    3. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (PubMed id 23749797)1, 2 Nakhro K....Chung K.W. (Neurology 2013)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Identification of potentially damaging amino acid substitutions leading to human male infertility. (PubMed id 19369647)1, 4 Kuzmin A....Varmuza S. (Biol. Reprod. 2009)
    7. 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. (Genome Res. 2004)
    8. Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9. (PubMed id 10848615)1, 2 Firestein R.... Cleary M.L. (Mol. Cell. Biol. 2000)
    9. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    10. Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties. (PubMed id 11686296)1, 9 Firestein R. and Cleary M.L. (J. Cell. Sci. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6305 HGNC: 10542 AceView: SBF1 Ensembl:ENSG00000100241 euGenes: HUgn6305
    ECgene: SBF1 H-InvDB: SBF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SBF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SBF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SBF1 gene:
    Search GeneIP for patents involving SBF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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