LMNB1

Protein identityUniProt · HPA

UniProt accession

P20700

Gene

LMNB1

Ensembl

ENSG00000113368

Chromosome

5

Canonical length

586 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nuclear membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

586 residues, UniProt reviewed canonical sequence.

>P20700|LMNB1
     1  MATATPVPPR MGSRAGGPTT PLSPTRLSRL QEKEELRELN DRLAVYIDKV RSLETENSAL
    61  QLQVTEREEV RGRELTGLKA LYETELADAR RALDDTARER AKLQIELGKC KAEHDQLLLN
   121  YAKKESDLNG AQIKLREYEA ALNSKDAALA TALGDKKSLE GDLEDLKDQI AQLEASLAAA
   181  KKQLADETLL KVDLENRCQS LTEDLEFRKS MYEEEINETR RKHETRLVEV DSGRQIEYEY
   241  KLAQALHEMR EQHDAQVRLY KEELEQTYHA KLENARLSSE MNTSTVNSAR EELMESRMRI
   301  ESLSSQLSNL QKESRACLER IQELEDLLAK EKDNSRRMLT DKEREMAEIR DQMQQQLNDY
   361  EQLLDVKLAL DMEISAYRKL LEGEEERLKL SPSPSSRVTV SRASSSRSVR TTRGKRKRVD
   421  VEESEASSSV SISHSASATG NVCIEEIDVD GKFIRLKNTS EQDQPMGGWE MIRKIGDTSV
   481  SYKYTSRYVL KAGQTVTIWA ANAGVTASPP TDLIWKNQNS WGTGEDVKVI LKNSQGEEVA
   541  QRSTVFKTTI PEEEEEEEEA AGVVVEEELF HQQGTPRASN RSCAIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMNB1 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)

0.48

Highest tissue expression

46 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMNB1.

Disease | AllUniProt

Conditions LMNB1 is implicated in, by any mechanism.

• Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical (ADLDTY) MIM:169500
• Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical (ADLDAT) MIM:621061
• Microcephaly 26, primary, autosomal dominant (MCPH26) MIM:619179

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 329 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Microcephaly 26, primary, autosomal dominant
• Syndrome with microcephaly as major feature
• Inborn genetic diseases
• Microcephaly
• Adult-onset autosomal dominant demyelinating leukodystrophy

Disease | AutoantibodyPubMed

Conditions in which antibodies against LMNB1 are reported. Each links to that disease's full target list.

• Lupus Erythematosus, Systemic 3

ReferencesPubMed · IEDB

Publications for LMNB1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.41

gnomAD pLI

0.55

gnomAD missense Z

1.63

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• heterochromatin formation
• nuclear envelope organization
• nuclear migration
• nuclear pore localization
• protein localization to nuclear envelope

Molecular functions

• phospholipase binding
• sequence-specific double-stranded DNA binding
• structural constituent of cytoskeleton
• structural constituent of nuclear lamina

Cellular components

• lamin filament
• membrane
• nuclear envelope
• nuclear inner membrane
• nuclear lamina
• nuclear matrix
• nuclear membrane
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Lamin tail domain
• Intermediate filament protein, conserved site
• Lamin tail domain superfamily
• Intermediate filament, rod domain
• Intermediate filament protein
• Lamin Tail Domain

KeywordsUniProt

• Acetylation
• Chromosomal rearrangement
• Coiled coil
• Disulfide bond
• Glycoprotein
• Intellectual disability
• Intermediate filament
• Isopeptide bond
• Leukodystrophy
• Lipoprotein
• Methylation
• Nucleus
• Phosphoprotein
• Prenylation
• Primary microcephaly
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of LMNB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SEPT12
• SPAG4
• SEPTIN12
• DDX21
• DDX50
• FAM169A
• KPNA1
• KPNA6
• LBR
• LMNA
• LMNB2
• MACROH2A1
• MAP1LC3B
• NDC1
• NUP153
• SFXN1
• STAU1
• VIM