L3MBTL3
Lethal(3)malignant brain tumor-like protein 3
Also known as: KIAA1798, LMBL3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JM7
- Gene
- L3MBTL3
- Ensembl
- ENSG00000198945
- Chromosome
- 6
- Canonical length
- 780 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Nucleoli rim
OverviewNCBI 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 are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
Canonical amino-acid sequenceUniProt
780 residues, UniProt reviewed canonical sequence.
>Q96JM7|L3MBTL3
1 MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA
61 TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC
121 ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK
181 ADTKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE
241 EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG
301 YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE
361 NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS
421 PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK
481 LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL
541 QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL
601 SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE
661 PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL
721 PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against L3MBTL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- spleen: 12 nTPM
- epididymis: 11 nTPM
- endometrium: 11 nTPM
- adrenal gland: 10 nTPM
- lymph node: 10 nTPM
- appendix: 9.3 nTPM
Single-cell type
- pituicytes/fscs: 235 nCPM
- adrenal cortex cells: 117 nCPM
- choroid plexus epithelial cells: 102 nCPM
- b-cells: 91 nCPM
- podocytes: 81 nCPM
- thymocytes: 61 nCPM
Immune cell
- non-classical monocyte: 23 nTPM
- plasmacytoid DC: 15 nTPM
- naive B-cell: 14 nTPM
- memory B-cell: 11 nTPM
- basophil: 8.3 nTPM
- T-reg: 6 nTPM
Brain region
- choroid plexus: 21 nTPM
- hypothalamus: 10 nTPM
- hippocampal formation: 9.5 nTPM
- cerebral cortex: 8.2 nTPM
- amygdala: 7.7 nTPM
- basal ganglia: 7.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.64
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin organization
- erythrocyte maturation
- granulocyte differentiation
- macrophage differentiation
- negative regulation of DNA-templated transcription
- negative regulation of transcription initiation-coupled chromatin remodeling
- positive regulation of ubiquitin-dependent protein catabolic process
Molecular functions
- chromatin binding
- histone binding
- identical protein binding
- methylation-dependent protein binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of L3MBTL3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads L3MBTL3 as an antibody target. Whether an autoantibody or antibody against L3MBTL3 could matter depends on whether native L3MBTL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
L3MBTL3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label L3MBTL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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