Seroatlas · Human Serome Atlas

L3MBTL1

Lethal(3)malignant brain tumor-like protein 1

Also known as: dJ138B7.3, DKFZp586P1522, KIAA0681, L3MBTL, LMBL1_HUMAN, ZC2HC3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y468
Gene: L3MBTL1
Ensembl: ENSG00000185513
Chromosome: 20
Canonical length: 840 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies,Midbody ring
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

840 residues, UniProt reviewed canonical sequence.

>Q9Y468|L3MBTL1
     1  MHLVAGDSPG SGPHLPATAF IIPASSATLG LPSSALDVSC FPREPIHVGA PEQVAGCEPV
    61  SATVLPQLSA GPASSSTSTV RLLEWTEAAA PPPGGGLRFR ISEYKPLNMA GVEQPPSPEL
   121  RQEGVTEYED GGAPAGDGEA GPQQAEDHPQ NPPEDPNQDP PEDDSTCQCQ ACGPHQAAGP
   181  DLGSSNDGCP QLFQERSVIV ENSSGSTSAS ELLKPMKKRK RREYQSPSEE ESEPEAMEKQ
   241  EEGKDPEGQP TASTPESEEW SSSQPATGEK KECWSWESYL EEQKAITAPV SLFQDSQAVT
   301  HNKNGFKLGM KLEGIDPQHP SMYFILTVAE VCGYRLRLHF DGYSECHDFW VNANSPDIHP
   361  AGWFEKTGHK LQPPKGYKEE EFSWSQYLRS TRAQAAPKHL FVSQSHSPPP LGFQVGMKLE
   421  AVDRMNPSLV CVASVTDVVD SRFLVHFDNW DDTYDYWCDP SSPYIHPVGW CQKQGKPLTP
   481  PQDYPDPDNF CWEKYLEETG ASAVPTWAFK VRPPHSFLVN MKLEAVDRRN PALIRVASVE
   541  DVEDHRIKIH FDGWSHGYDF WIDADHPDIH PAGWCSKTGH PLQPPLGPRE PSSASPGGCP
   601  PLSYRSLPHT RTSKYSFHHR KCPTPGCDGS GHVTGKFTAH HCLSGCPLAE RNQSRLKAEL
   661  SDSEASARKK NLSGFSPRKK PRHHGRIGRP PKYRKIPQED FQTLTPDVVH QSLFMSALSA
   721  HPDRSLSVCW EQHCKLLPGV AGISASTVAK WTIDEVFGFV QTLTGCEDQA RLFKDEARIV
   781  RVTHVSGKTL VWTVAQLGDL VCSDHLQEGK GILETGVHSL LCSLPTHLLA KLSFASDSQY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against L3MBTL1 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): 0.5
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 14 nTPM
pituitary gland: 11 nTPM
hypothalamus: 11 nTPM
cerebral cortex: 9.7 nTPM
hippocampal formation: 7.1 nTPM
amygdala: 6.8 nTPM

Single-cell type

oligodendrocytes: 35 nCPM
oligodendrocyte progenitor cells: 31 nCPM
brain inhibitory neurons: 31 nCPM
other brain neurons: 31 nCPM
brain excitatory neurons: 30 nCPM
distal convoluted tubule cells: 25 nCPM

Immune cell

NK-cell: 0.2 nTPM
memory CD4 T-cell: 0.1 nTPM
total PBMC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

hypothalamus: 12 nTPM
midbrain: 9.4 nTPM
pons: 9.4 nTPM
cerebral cortex: 9.3 nTPM
basal ganglia: 9.1 nTPM
medulla oblongata: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about L3MBTL1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 154 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Inborn genetic diseases

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): 0.78
gnomAD pLI: 0
gnomAD missense Z: 1
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Zinc finger, C2H2C-type
Mbt repeat domain
Zinc finger, C2H2C-type superfamily
Polycomb group and chromatin remodeling factors
Zinc finger, C2HC type
mbt repeat
Lethal(3)malignant brain tumor-like protein 1, first MBT repeat
Lethal(3)malignant brain tumor-like protein 1, third MBT repeat

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of L3MBTL1 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 L3MBTL1 as an antibody target. Whether an autoantibody or antibody against L3MBTL1 could matter depends on whether native L3MBTL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

L3MBTL1 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 L3MBTL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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