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L3MBTL3 (L3MBTL histone methyl-lysine binding protein 3)

Identity

Alias (NCBI)MBT-1
MBT1
HGNC (Hugo) L3MBTL3
HGNC Alias symbKIAA1798
LocusID (NCBI) 84456
Atlas_Id 65154
Location 6q23.1  [Link to chromosome band 6q23]
Location_base_pair Starts at 130018581 and ends at 130141438 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
L3MBTL3 (6q23.1) / FAM63A (1q21.3)L3MBTL3 (6q23.1) / L3MBTL3 (6q23.1)L3MBTL3 (6q23.1) / PTPRK (6q22.33)
L3MBTL3 (6q23.1) / WDR37 (10p15.3)NCOA7 (6q22.32) / L3MBTL3 (6q23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(q22;q23) L3MBTL3/PTPRK
t(6;6)(q22;q23) L3MBTL3/PTPRK


External links

 

Nomenclature
HGNC (Hugo)L3MBTL3   23035
Cards
Entrez_Gene (NCBI)L3MBTL3    L3MBTL histone methyl-lysine binding protein 3
AliasesMBT-1; MBT1
GeneCards (Weizmann)L3MBTL3
Ensembl hg19 (Hinxton)ENSG00000198945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198945 [Gene_View]  ENSG00000198945 [Sequence]  chr6:130018581-130141438 [Contig_View]  L3MBTL3 [Vega]
ICGC DataPortalENSG00000198945
TCGA cBioPortalL3MBTL3
AceView (NCBI)L3MBTL3
Genatlas (Paris)L3MBTL3
SOURCE (Princeton)L3MBTL3
Genetics Home Reference (NIH)L3MBTL3
Genomic and cartography
GoldenPath hg38 (UCSC)L3MBTL3  -     chr6:130018581-130141438 +  6q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)L3MBTL3  -     6q23.1   [Description]    (hg19-Feb_2009)
GoldenPathL3MBTL3 - 6q23.1 [CytoView hg19]  L3MBTL3 - 6q23.1 [CytoView hg38]
ImmunoBaseENSG00000198945
Genome Data Viewer NCBIL3MBTL3 [Mapview hg19]  
OMIM618844   
Gene and transcription
Genbank (Entrez)AB058701 AI123736 AK092756 AK094137 AK290219
RefSeq transcript (Entrez)NM_001007102 NM_001346550 NM_001346551 NM_032438
Consensus coding sequences : CCDS (NCBI)L3MBTL3
Gene ExpressionL3MBTL3 [ NCBI-GEO ]   L3MBTL3 [ EBI - ARRAY_EXPRESS ]   L3MBTL3 [ SEEK ]   L3MBTL3 [ MEM ]
Gene Expression Viewer (FireBrowse)L3MBTL3 [ Firebrowse - Broad ]
GenevisibleExpression of L3MBTL3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84456
GTEX Portal (Tissue expression)L3MBTL3
Human Protein AtlasENSG00000198945-L3MBTL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JM7
PhosPhoSitePlusQ96JM7
Domaine pattern : Prosite (Expaxy)MBT (PS51079)    SAM_DOMAIN (PS50105)    ZF_CCHHC (PS51802)   
Domains : Interpro (EBI)Mbt    SAM    SAM/pointed_sf    Znf_C2H2C   
Domain families : Pfam (Sanger)MBT (PF02820)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam02820    pfam00536   
Domain families : Smart (EMBL)MBT (SM00561)  SAM (SM00454)  
Conserved Domain (NCBI)L3MBTL3
PDB (RSDB)1WJQ    1WJS    3UT1    4FL6    4L59   
PDB Europe1WJQ    1WJS    3UT1    4FL6    4L59   
PDB (PDBSum)1WJQ    1WJS    3UT1    4FL6    4L59   
PDB (IMB)1WJQ    1WJS    3UT1    4FL6    4L59   
Structural Biology KnowledgeBase1WJQ    1WJS    3UT1    4FL6    4L59   
SCOP (Structural Classification of Proteins)1WJQ    1WJS    3UT1    4FL6    4L59   
CATH (Classification of proteins structures)1WJQ    1WJS    3UT1    4FL6    4L59   
SuperfamilyQ96JM7
AlphaFold pdb e-kbQ96JM7   
Human Protein Atlas [tissue]ENSG00000198945-L3MBTL3 [tissue]
HPRD11222
Protein Interaction databases
DIP (DOE-UCLA)Q96JM7
IntAct (EBI)Q96JM7
BioGRIDL3MBTL3
STRING (EMBL)L3MBTL3
ZODIACL3MBTL3
Ontologies - Pathways
QuickGOQ96JM7
Ontology : AmiGOmolecular_function  chromatin binding  protein binding  nucleus  nucleoplasm  nucleolus  chromatin organization  zinc ion binding  macrophage differentiation  granulocyte differentiation  histone binding  identical protein binding  erythrocyte maturation  negative regulation of transcription, DNA-templated  
Ontology : EGO-EBImolecular_function  chromatin binding  protein binding  nucleus  nucleoplasm  nucleolus  chromatin organization  zinc ion binding  macrophage differentiation  granulocyte differentiation  histone binding  identical protein binding  erythrocyte maturation  negative regulation of transcription, DNA-templated  
NDEx NetworkL3MBTL3
Atlas of Cancer Signalling NetworkL3MBTL3
Wikipedia pathwaysL3MBTL3
Orthology - Evolution
OrthoDB84456
GeneTree (enSembl)ENSG00000198945
Phylogenetic Trees/Animal Genes : TreeFamL3MBTL3
Homologs : HomoloGeneL3MBTL3
Homology/Alignments : Family Browser (UCSC)L3MBTL3
Gene fusions - Rearrangements
Fusion : QuiverL3MBTL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerL3MBTL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)L3MBTL3
dbVarL3MBTL3
ClinVarL3MBTL3
MonarchL3MBTL3
1000_GenomesL3MBTL3 
Exome Variant ServerL3MBTL3
GNOMAD BrowserENSG00000198945
Varsome BrowserL3MBTL3
ACMGL3MBTL3 variants
VarityQ96JM7
Genomic Variants (DGV)L3MBTL3 [DGVbeta]
DECIPHERL3MBTL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisL3MBTL3 
Mutations
ICGC Data PortalL3MBTL3 
TCGA Data PortalL3MBTL3 
Broad Tumor PortalL3MBTL3
OASIS PortalL3MBTL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICL3MBTL3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DL3MBTL3
Mutations and Diseases : HGMDL3MBTL3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaL3MBTL3
DgiDB (Drug Gene Interaction Database)L3MBTL3
DoCM (Curated mutations)L3MBTL3
CIViC (Clinical Interpretations of Variants in Cancer)L3MBTL3
Cancer3DL3MBTL3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618844   
Orphanet
DisGeNETL3MBTL3
MedgenL3MBTL3
Genetic Testing Registry L3MBTL3
NextProtQ96JM7 [Medical]
GENETestsL3MBTL3
Target ValidationL3MBTL3
Huge Navigator L3MBTL3 [HugePedia]
ClinGenL3MBTL3
Clinical trials, drugs, therapy
MyCancerGenomeL3MBTL3
Protein Interactions : CTDL3MBTL3
Pharm GKB GenePA134943930
PharosQ96JM7
Clinical trialL3MBTL3
Miscellaneous
canSAR (ICR)L3MBTL3
HarmonizomeL3MBTL3
DataMed IndexL3MBTL3
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXL3MBTL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:55:22 CEST 2021

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