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MYBL1 (v-myb myeloblastosis viral oncogene homolog (avian)-like 1)

Written2009-01Olesya Chayka, Arturo Sala
Institute of Child Health Molecular Haematology, Cancer Biology Unit 30 Guilford street London, WC1N 1EH, UK

(Note : for Links provided by Atlas : click)

Identity

Other namesA-MYB
AMYB
HGNC (Hugo) MYBL1
LocusID (NCBI) 4603
Atlas_Id 41468
Location 8q13.1
Location_base_pair Starts at 67474410 and ends at 67525484 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2015)
BCL6 (3q27.3) / MYBL1 (8q13.1)C8orf34 (8q13.2) / MYBL1 (8q13.1)CA3 (8q21.2) / MYBL1 (8q13.1)

DNA/RNA

 
  Red boxes: untranslated regions; Black boxes: coding regions.
Description 50,762 bases DNA with 15 exons.
Transcription 4,879 bases mRNA.

Protein

 
  R1, R2 and R3 form DNA-binding domain, TA - transactivation domain, CR - conserved region, RD - negative regulatory domain.
Description 752 amino acids, 95 kDa protein.
R1, R2, R3 - three repeats 50 amino acids long, R2 and R3 contain HTH (helix-turn-helix) motives with unconventional turns required for DNA-binding activity, R1 serves as a DNA/protein complex stabilizer;
TA contains acidic amino acids and responsible for transcriptional activation;
CR known as an inhibitor of specific DNA binding activity;
RD is responsible for repression of transactivation function of A-MYB.
Expression Mainly in spermatocytes, neuronal cells and B-lymphoid cells. Also was reported to be expressed in uterine cells and B-cells germinal centres.
Localisation Nucleus.
Function Transcription factor which play a role in the proliferation and differentiation of neurogenic, spermatogenic and B-lymphoid cells. A-MYB knockout mice demonstrated growth abnormalities, and defects in spermatogenesis and female breast development, whereas constantly high expression level of A-MYB in transgenic mice caused hyperplasia in the lymph nodes and spleen.
Homology A-MYB is a member of MYB transcription factors family, which includes C-MYB and B-MYB, with high homology within TA and RD regions. DNA-binding domain is almost identical with that of B-MYB and C-MYB and conserved between mouse, human, drosophila and chicken.

Implicated in

Note
Entity Uterine leiomyoma
Disease Amplification of A-MYB was detected in uterine leiomyoma cells (UtLM) after estrogen stimulation.
Oncogenesis A-MYB overexpression results in promotion of cells proliferation.
  
Entity B-cell haematological malignancies
Disease High A-MYB mRNA and protein expression was described in Burkitt's Lymphoma and sIg+ B-Acute Lymphoblastic Leukemia cell lines and patient samples. A-MYB was also notably expressed in some Chronic Lymphocytic Leukemias (CLL).
Oncogenesis Deregulation of B-cells differentiation that may be caused by A-MYB.
  
Entity Lymphoma
Disease Expression of A-MYB was demonstrated in the DHL-4 lymphoma cell line with t(14;18)(q32;q21) translocation.
Oncogenesis A-MYB activates BCL2 P2 promoter through a Cdx binding site promoting resistance of these cells to apoptosis.
  

Bibliography

Chromosome locations of the MYB related genes, AMYB and BMYB.
Barletta C, Druck T, LaForgia S, Calabretta B, Drabkin H, Patterson D, Croce CM, Huebner K.
Cancer Res. 1991 Jul 15;51(14):3821-4.
PMID 2065336
 
DNA binding and transactivation activity of A-myb, a c-myb-related gene.
Ma XP, Calabretta B.
Cancer Res. 1994 Dec 15;54(24):6512-6.
PMID 7987850
 
Expression of A-myb, but not c-myb and B-myb, is restricted to Burkitt's lymphoma, sIg+ B-acute lymphoblastic leukemia, and a subset of chronic lymphocytic leukemias.
Golay J, Luppi M, Songia S, Palvarini C, Lombardi L, Aiello A, Delia D, Lam K, Crawford DH, Biondi A, Barbui T, Rambaldi A, Introna M.
Blood. 1996 Mar 1;87(5):1900-11.
PMID 8634438
 
Ectopic expression of A-myb in transgenic mice causes follicular hyperplasia and enhanced B lymphocyte proliferation.
DeRocco SE, Iozzo R, Ma XP, Schwarting R, Peterson D, Calabretta B.
Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3240-4.
PMID 9096377
 
Arrest of spermatogenesis and defective breast development in mice lacking A-myb.
Toscani A, Mettus RV, Coupland R, Simpkins H, Litvin J, Orth J, Hatton KS, Reddy EP.
Nature. 1997 Apr 17;386(6626):713-7.
PMID 9109487
 
Linking Myb to the cell cycle: cyclin-dependent phosphorylation and regulation of A-Myb activity.
Ziebold U, Klempnauer KH.
Oncogene. 1997 Aug 28;15(9):1011-9.
PMID 9285555
 
The A-Myb transcription factor is a marker of centroblasts in vivo.
Golay J, Broccoli V, Lamorte G, Bifulco C, Parravicini C, Pizzey A, Thomas NS, Delia D, Ferrauti P, Vitolo D, Introna M.
J Immunol. 1998 Mar 15;160(6):2786-93.
PMID 9510180
 
The myb gene family in cell growth, differentiation and apoptosis.
Oh IH, Reddy EP.
Oncogene. 1999 May 13;18(19):3017-33. Review
PMID 10378697
 
A-Myb up-regulates Bcl-2 through a Cdx binding site in t(14;18) lymphoma cells.
Heckman CA, Mehew JW, Ying GG, Introna M, Golay J, Boxer LM.
J Biol Chem. 2000 Mar 3;275(9):6499-508.
PMID 10692454
 
Estrogen-induced changes in IGF-I, Myb family and MAP kinase pathway genes in human uterine leiomyoma and normal uterine smooth muscle cell lines.
Swartz CD, Afshari CA, Yu L, Hall KE, Dixon D.
Mol Hum Reprod. 2005 Jun;11(6):441-50. Epub 2005 May 6.
PMID 15879465
 

Citation

This paper should be referenced as such :
Chayka, O ; Sala, A
MYBL1 (v-myb myeloblastosis viral oncogene homolog (avian)-like 1)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):950-951.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MYBL1ID41468ch8q13.html


External links

Nomenclature
HGNC (Hugo)MYBL1   7547
Cards
AtlasMYBL1ID41468ch8q13
Entrez_Gene (NCBI)MYBL1  4603  v-myb avian myeloblastosis viral oncogene homolog-like 1
GeneCards (Weizmann)MYBL1
Ensembl hg19 (Hinxton)ENSG00000185697 [Gene_View]  chr8:67474410-67525484 [Contig_View]  MYBL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000185697 [Gene_View]  chr8:67474410-67525484 [Contig_View]  MYBL1 [Vega]
ICGC DataPortalENSG00000185697
TCGA cBioPortalMYBL1
AceView (NCBI)MYBL1
Genatlas (Paris)MYBL1
WikiGenes4603
SOURCE (Princeton)MYBL1
Genomic and cartography
GoldenPath hg19 (UCSC)MYBL1  -     chr8:67474410-67525484 -  8q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYBL1  -     8q13.1   [Description]    (hg38-Dec_2013)
EnsemblMYBL1 - 8q13.1 [CytoView hg19]  MYBL1 - 8q13.1 [CytoView hg38]
Mapping of homologs : NCBIMYBL1 [Mapview hg19]  MYBL1 [Mapview hg38]
OMIM159405   
Gene and transcription
Genbank (Entrez)AK308490 BC032233 BC046930 BC069252 BC101186
RefSeq transcript (Entrez)NM_001080416 NM_001144755 NM_001294282
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)MYBL1
Cluster EST : UnigeneHs.445898 [ NCBI ]
CGAP (NCI)Hs.445898
Alternative Splicing : Fast-db (Paris)GSHG0029618
Alternative Splicing GalleryENSG00000185697
Gene ExpressionMYBL1 [ NCBI-GEO ]     MYBL1 [ SEEK ]   MYBL1 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4603
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10243 (Uniprot)
NextProtP10243  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10243
Splice isoforms : SwissVarP10243 (Swissvar)
PhosPhoSitePlusP10243
Domaine pattern : Prosite (Expaxy)HTH_MYB (PS51294)   
Domains : Interpro (EBI)C-myb_C    Homeodomain-like    Myb_dom    MYBL1    SANT/Myb    Tscrpt_reg_Wos2-domain   
Domain families : Pfam (Sanger)Cmyb_C (PF09316)    LMSTEN (PF07988)    Myb_DNA-binding (PF00249)   
Domain families : Pfam (NCBI)pfam09316    pfam07988    pfam00249   
Domain families : Smart (EMBL)SANT (SM00717)  
DMDM Disease mutations4603
Blocks (Seattle)MYBL1
Human Protein AtlasENSG00000185697
Peptide AtlasP10243
IPIIPI01012630   IPI00742040   IPI00979904   
Protein Interaction databases
DIP (DOE-UCLA)P10243
IntAct (EBI)P10243
FunCoupENSG00000185697
BioGRIDMYBL1
IntegromeDBMYBL1
STRING (EMBL)MYBL1
ZODIACMYBL1
Ontologies - Pathways
QuickGOP10243
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  gene expression  gene silencing by RNA  piRNA metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  gene expression  gene silencing by RNA  piRNA metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  
Pathways : KEGGHTLV-I infection   
REACTOMEP10243 [protein]
REACTOME PathwaysR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis [pathway]
Protein Interaction DatabaseMYBL1
Atlas of Cancer Signalling NetworkMYBL1
Wikipedia pathwaysMYBL1
Orthology - Evolution
OrthoDB4603
GeneTree (enSembl)ENSG00000185697
Phylogenetic Trees/Animal Genes : TreeFamMYBL1
Gene fusions - Rearrangements
Fusion : MitelmanBCL6/MYBL1 [3q27.3/8q13.1]  [t(3;8)(q27;q13)]  
Fusion : MitelmanC8orf34/MYBL1 [8q13.2/8q13.1]  [t(8;8)(q13;q13)]  
Fusion : MitelmanCA3/MYBL1 [8q21.2/8q13.1]  [t(8;8)(q13;q21)]  
Fusion: TCGACA3 8q21.2 MYBL1 8q13.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMYBL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBL1
dbVarMYBL1
ClinVarMYBL1
1000_GenomesMYBL1 
Exome Variant ServerMYBL1
SNP (GeneSNP Utah)MYBL1
SNP : HGBaseMYBL1
Genetic variants : HAPMAPMYBL1
Genomic Variants (DGV)MYBL1 [DGVbeta]
Mutations
ICGC Data PortalMYBL1 
TCGA Data PortalMYBL1 
Tumor PortalMYBL1
TCGA Copy Number PortalMYBL1
Somatic Mutations in Cancer : COSMICMYBL1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYBL1
DgiDB (Drug Gene Interaction Database)MYBL1
DoCM (Curated mutations)MYBL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBL1 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:67474410-67525484
CONAN: Copy Number AnalysisMYBL1 
Mutations and Diseases : HGMDMYBL1
OMIM159405   
MedgenMYBL1
NextProtP10243 [Medical]
TSGene4603
GENETestsMYBL1
Huge Navigator MYBL1 [HugePedia]  MYBL1 [HugeCancerGEM]
snp3D : Map Gene to Disease4603
BioCentury BCIQMYBL1
General knowledge
Homologs : HomoloGeneMYBL1
Homology/Alignments : Family Browser (UCSC)MYBL1
Chemical/Protein Interactions : CTD4603
Chemical/Pharm GKB GenePA31347
Clinical trialMYBL1
Other databases
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYBL1
GoPubMedMYBL1
iHOPMYBL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 29 18:23:34 CET 2016

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