Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84456
Gene name Gene Name - the full gene name approved by the HGNC.
L3MBTL histone methyl-lysine binding protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
L3MBTL3
Synonyms (NCBI Gene) Gene synonyms aliases
MBT-1, MBT1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and ar
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1102952 hsa-miR-183 CLIP-seq
MIRT1102953 hsa-miR-203 CLIP-seq
MIRT1102954 hsa-miR-3163 CLIP-seq
MIRT1102955 hsa-miR-410 CLIP-seq
MIRT1102956 hsa-miR-4684-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 33980486
GO:0005515 Function Protein binding IPI 17517653, 21516116, 22157815, 25416956, 26871637, 29030483, 29691401, 30442713, 31515488, 32296183, 32814053, 33980486
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 33980486
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618844 23035 ENSG00000198945
Protein
UniProt ID Q96JM7
Protein name Lethal(3)malignant brain tumor-like protein 3 (H-l(3)mbt-like protein 3) (L(3)mbt-like protein 3) (L3mbt-like 3) (MBT-1)
Protein function Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression (PubMed:29030483). It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation (PubMed:29030483).
PDB 1WJQ , 1WJS , 3UT1 , 4FL6 , 4L59 , 7RTE , 7RTI , 8Y76 , 8Y77
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02820 MBT 268 336 mbt repeat Domain
PF02820 MBT 375 443 mbt repeat Domain
PF02820 MBT 479 545 mbt repeat Domain
PF00536 SAM_1 706 770 SAM domain (Sterile alpha motif) Domain
Sequence
MTESASSTSGQEFDVFSVMDWKDGVGTLPGSDLKFRVNEFGALEVITDENEMENVKKATA
TTTWMVPTAQEAPTSPPSSRPVFPPAYWTSPPGCPTVFSEKTGMPFRLKDPVKVEGLQFC
ENCCQYGNVDECLSGGNYCSQNCARHIKDKDQKEERDVEEDNEEEDPKCSRKKKPKLSLK
ADTKEDGEERDDEMENKQDVRILRGSQRARRKRRGDSAVLKQGLPPKGKKAWCWASYLEE
EKAVAVPAKLFKEHQSFPYNKNGFKVGMKLEGVDPEHQSVYCVLTVAEVCGYRIKLHFDG
YSDCYDFWVNADALDIHPVGWCEKTGHKLHPPKGYK
EEEFNWQTYLKTCKAQAAPKSLFE
NQNITVIPSGFRVGMKLEAVDKKNPSFICVATVTDMVDNRFLVHFDNWDESYDYWCEASS
PHIHPVGWCKEHRRTLITPPGYP
NVKHFSWDKYLEETNSLPAPARAFKVKPPHGFQKKMK
LEVVDKRNPMFIRVATVADTDDHRVKVHFDGWNNCYDYWIDADSPDIHPVGWCSKTGHPL
QPPLS
PLELMEASEHGGCSTPGCKGIGHFKRARHLGPHSAANCPYSEINLNKDRIFPDRL
SGEMPPASPSFPRNKRTDANESSSSPEIRDQHADDVKEDFEERTESEMRTSHEARGAREE
PTVQQAQRRSAVFLSFKSPIPCLPLRWEQQSKLLPTVAGIPASKVSKWSTDEVSEFIQSL
PGCEEHGKVFKDEQIDGEAFLLMTQTDIVKIMSIKLGPALKIFNSILMFK
AAEKNSHNEL
Sequence length 780
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Polycomb repressive complex  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer (estrogen-receptor negative), Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 27432226, 39614330
Colorectal Neoplasms Associate 28115406
Diabetes Mellitus Type 2 Associate 23626757
Hereditary Breast and Ovarian Cancer Syndrome Associate 28115406
Hypertrophy Associate 32349335
Inflammatory Bowel Diseases Associate 24911414
Multiple Sclerosis Associate 27386562, 35088080
Neoplasms Associate 27432226
Ovarian Diseases Associate 28115406
Ovarian Neoplasms Stimulate 27432226