Seroatlas · Human Serome Atlas

LMNA

Prelamin-A/C

Also known as: CMD1A, HGPS, LGMD1B, LMN1, LMNA_HUMAN, LMNL1, MADA, PRO1

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

Protein identityUniProt · HPA

UniProt accession: P02545
Gene: LMNA
Ensembl: ENSG00000160789
Chromosome: 1
Canonical length: 664 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nuclear speckles
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

664 residues, UniProt reviewed canonical sequence.

>P02545|LMNA
     1  METPSQRRAT RSGAQASSTP LSPTRITRLQ EKEDLQELND RLAVYIDRVR SLETENAGLR
    61  LRITESEEVV SREVSGIKAA YEAELGDARK TLDSVAKERA RLQLELSKVR EEFKELKARN
   121  TKKEGDLIAA QARLKDLEAL LNSKEAALST ALSEKRTLEG ELHDLRGQVA KLEAALGEAK
   181  KQLQDEMLRR VDAENRLQTM KEELDFQKNI YSEELRETKR RHETRLVEID NGKQREFESR
   241  LADALQELRA QHEDQVEQYK KELEKTYSAK LDNARQSAER NSNLVGAAHE ELQQSRIRID
   301  SLSAQLSQLQ KQLAAKEAKL RDLEDSLARE RDTSRRLLAE KEREMAEMRA RMQQQLDEYQ
   361  ELLDIKLALD MEIHAYRKLL EGEEERLRLS PSPTSQRSRG RASSHSSQTQ GGGSVTKKRK
   421  LESTESRSSF SQHARTSGRV AVEEVDEEGK FVRLRNKSNE DQSMGNWQIK RQNGDDPLLT
   481  YRFPPKFTLK AGQVVTIWAA GAGATHSPPT DLVWKAQNTW GCGNSLRTAL INSTGEEVAM
   541  RKLVRSVTVV EDDEDEDGDD LLHHHHGSHC SSSGDPAEYN LRSRTVLCGT CGQPADKASA
   601  SGSGAQVGGP ISSGSSASSV TVTRSYRSVG GSGGGSFGDN LVTRSYLLGN SSPRTQSPQN
   661  CSIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMNA 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): 0.51
Highest tissue expression: 283 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 283 nTPM
skin: 276 nTPM
endometrium: 227 nTPM
adipose tissue: 208 nTPM
esophagus: 201 nTPM
breast: 175 nTPM

Single-cell type

mast cells: 2,669 nCPM
schwann cells: 1,416 nCPM
breast secretory cells: 1,202 nCPM
platelets: 1,177 nCPM
esophageal basal cells: 984 nCPM
urothelial cells: 984 nCPM

Immune cell

T-reg: 99 nTPM
myeloid DC: 98 nTPM
basophil: 31 nTPM
memory CD4 T-cell: 22 nTPM
total PBMC: 18 nTPM
classical monocyte: 9.5 nTPM

Brain region

white matter: 89 nTPM
choroid plexus: 71 nTPM
thalamus: 70 nTPM
medulla oblongata: 66 nTPM
pons: 58 nTPM
basal ganglia: 58 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMNA.

Disease | AllUniProt

Conditions LMNA is implicated in, by any mechanism.

Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) MIM:181350
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) MIM:616516
Cardiomyopathy, dilated, 1A (CMD1A) MIM:115200
Lipodystrophy, familial partial, 2 (FPLD2) MIM:151660
Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1) MIM:605588
Hutchinson-Gilford progeria syndrome (HGPS) MIM:176670
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) MIM:212112
Mandibuloacral dysplasia with type A lipodystrophy (MADA) MIM:248370
Restrictive dermopathy 2 (RSDM2) MIM:619793
Heart-hand syndrome Slovenian type (HHS-Slovenian) MIM:610140
Muscular dystrophy congenital LMNA-related (MDCL) MIM:613205

Disease | GeneticClinVar

551 pathogenic / likely-pathogenic of 2,443 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Primary dilated cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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): 0.21
gnomAD pLI: 1
gnomAD missense Z: 2.37
DepMap mean gene effect: -0.38
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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