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

Identity

Other namesA-MYB
AMYB
A-myb
A-Myb
MGC120061
MGC120059
HGNC (Hugo) MYBL1
Location 8q13.1
Location_base_pair Starts at 67474411 and ends at 67525480 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

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.
  

External links

Nomenclature
HGNC (Hugo)MYBL1   7547
Entrez_Gene (NCBI)MYBL1  4603  v-myb myeloblastosis viral oncogene homolog (avian)-like 1
Cards
AtlasMYBL1ID41468ch8q13
GeneCards (Weizmann)MYBL1
Ensembl (Hinxton)ENSG00000185697 [Gene_View]  MYBL1 [Vega]
AceView (NCBI)MYBL1
Genatlas (Paris)MYBL1
euGene (Indiana)4603
SOURCE (Stanford)NM_001080416 NM_001144755
Gene Expression (Array Express) ENSG00000185697
Genomic and cartography
GoldenPath (UCSC)MYBL1  -  8q13.1   chr8:67474411-67525480 -  8q22   [Description]    (hg19-Feb_2009)
EnsemblMYBL1 - 8q22 [CytoView]
Mapping of homologs : NCBIMYBL1 [Mapview]
OMIM159405   
Gene and transcription
Gene : Genbank (Entrez)AK308490 BC101186 BC101187 BC101188 CN482561
Reference sequence (RefSeq transcript) :SRSNM_001080416 NM_001144755
Reference transcript : EntrezNM_001080416 NM_001144755
RefSeq genomic : SRSAC_000051 AC_000140 NC_000008 NT_008183 NW_001839132 NW_923929
RefSeq genomic : EntrezAC_000051 AC_000140 NC_000008 NT_008183 NW_001839132 NW_923929
Consensus coding sequences : CCDS NCBIMYBL1
Cluster EST : UnigeneHs.445898 [ SRS ] Hs.445898 [ NCBI ]
Alternative Splicing : Fast-db (Paris)5594
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP10243 (SRS) P10243 (Expasy) P10243 (Uniprot)
With graphics : InterProP10243
Splice isoforms : VarSplice FASTAP10243(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HTH_MYB (PS51294)   
Domain pattern : Prosite (Expaxy)HTH_MYB (PS51294)   
Domains : Interpro (SRS)C-myb_C    Homeodomain-like    Homeodomain-rel    HTH_Myb-type_DNA-bd    Myb_DNA-bd    Myb_trans_fac    SANT_DNA-bd    Tscrpt_reg_Wos2-domain   
Domains : Interpro (EBI)C-myb_C    Homeodomain-like    Homeodomain-rel    HTH_Myb-type_DNA-bd    Myb_DNA-bd    Myb_trans_fac    SANT_DNA-bd    Tscrpt_reg_Wos2-domain   
Related proteins : CluSTrP10243
Domain families : Pfam SRSCmyb_C (PF09316)    Myb_DNA-binding (PF00249)    Wos2 (PF07988)   
Domain families : Pfam SangerCmyb_C (PF09316)    Myb_DNA-binding (PF00249)    Wos2 (PF07988)   
Domain families : Pfam NCBIpfam09316    pfam00249    pfam07988   
Domain families : Smart EMBLSANT (SM00717)  
Blocks (Seattle)P10243
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000185697
Protein Interaction databases
DIP (DOE-UCLA)P10243
IntAct (EBI)P10243
FunCoupENSG00000185697
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMYBL1
SNP : GeneSNP UtahMYBL1
SNP : HGBaseMYBL1
Genetic variants : HAPMAPMYBL1
Somatic Mutations in Cancer : COSMICMYBL1 
Mutations and Diseases : HGMDMYBL1
Hereditary diseases : OMIM159405   
Hereditary diseases : GENETests159405   
Diseases : Genetic AssociationMYBL1
General knowledge
Homologs : HomoloGeneMYBL1
Homology/Alignments : Family Browser UCSCMYBL1
Phylogenetic Trees/Animal Genes : TreeFamMYBL1
Chemical/Protein Interactions : CTD4603
Keywords Ontology : AmiGODNA binding  nucleus  nucleus  nucleolus  regulation of transcription, DNA-dependent  transcription activator activity  
Keywords Ontology : EGO-EBIDNA binding  nucleus  nucleus  nucleolus  regulation of transcription, DNA-dependent  transcription activator activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesMYBL1 Related clones (RZPD - Berlin)
Literature
PubMed9 Pubmed reference(s) in Entrez
PubGeneMYBL1

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2009Olesya Chayka, Arturo Sala
Institute of Child Health Molecular Haematology and Cancer Biology Unit 30 Guilford street London, WC1N 1EH, UK

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. January 2009 .
URL : http://AtlasGeneticsOncology.org/Genes/MYBL1ID41468ch8q13.html

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indexed on : Thu Jul 15 14:44:45 CEST 2010

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