Gene Gene information from NCBI Gene database.
Entrez ID 84456
Gene name L3MBTL histone methyl-lysine binding protein 3
Gene symbol L3MBTL3
Synonyms (NCBI Gene)
MBT-1MBT1
Chromosome 6
Chromosome location 6q23.1
Summary 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.
233
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618844 23035 ENSG00000198945
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29058716, 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 27432226, 39614330 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28115406 Associate
★☆☆☆☆
Found in Text Mining only
Desmoplastic Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 23626757 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 23626757
★☆☆☆☆
Found in Text Mining only