LMNA Gene (Protein Coding)

Lamin A/C

GC01P156082
GIFtS:
49
The nuclear lamina consists of 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 stru... See more...

Aliases for LMNA Gene

Aliases for LMNA Gene

  • Lamin A/C 2 3 5
  • Mandibuloacral Dysplasia Type A 2 3
  • Lamin A/C-Like 1 2 3
  • Prelamin-A/C 3 4
  • LMN1 3 4
  • Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) 2
  • Cardiomyopathy, Dilated 1A (Autosomal Dominant) 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Progeria 1 (Hutchinson-Gilford Type) 2
  • Renal Carcinoma Antigen NY-REN-32 3
  • 70 KDa Lamin 3
  • CMT2B1 3
  • LGMD1B 3
  • CDCD1 3
  • FPLD2 3
  • Lamin 3
  • CMD1A 3
  • LMNL1 3
  • CDDC 3
  • EMD2 3
  • FPLD 3
  • HGPS 3
  • LDP1 3
  • LMNC 3
  • MADA 3
  • PRO1 3
  • FPL 3
  • IDC 3
  • LFP 3

External Ids for LMNA Gene

Previous HGNC Symbols for LMNA Gene

  • LMN1
  • CMD1A
  • LGMD1B
  • PRO1
  • LMNL1

Previous GeneCards Identifiers for LMNA Gene

  • GC01P153921
  • GC01P151817
  • GC01P152830
  • GC01P153301
  • GC01P152897
  • GC01P154318
  • GC01P156053
  • GC01P127446

Summaries for LMNA Gene

Entrez Gene Summary for LMNA Gene

  • The nuclear lamina consists of 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, Apr 2012]

GeneCards Summary for LMNA Gene

LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Cardiomyopathy, Dilated, 1A. Among its related pathways are Apoptosis and survival Caspase cascade and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot Summary for LMNA Gene

  • Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).
  • Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.

Gene Wiki entry for LMNA Gene

Additional gene information for LMNA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMNA Gene

Genomics for LMNA Gene

GeneHancer (GH) Regulatory Elements for LMNA Gene

Promoters and enhancers for LMNA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMNA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMNA

Top Transcription factor binding sites by QIAGEN in the LMNA gene promoter:
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for LMNA Gene

Genomic Locations for LMNA Gene
chr1:156,082,546-156,140,089
(GRCh38/hg38)
Size:
57,544 bases
Orientation:
Plus strand
chr1:156,052,364-156,109,880
(GRCh37/hg19)
Size:
57,517 bases
Orientation:
Plus strand

Genomic View for LMNA Gene

Genes around LMNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LMNA Gene

Proteins for LMNA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for LMNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02545-LMNA_HUMAN
    Recommended name:
    Prelamin-A/C
    Protein Accession:
    P02545
    Secondary Accessions:
    • B4DI32
    • D3DVB0
    • D6RAQ3
    • E7EUI9
    • P02546
    • Q5I6Y4
    • Q5I6Y6
    • Q5TCJ2
    • Q5TCJ3
    • Q6UYC3
    • Q969I8
    • Q96JA2

    Protein attributes for LMNA Gene

    Size:
    664 amino acids
    Molecular mass:
    74139 Da
    Quaternary structure:
    • Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 and with emerin. Interacts with SREBF1, SREBF2, SUN2 and TMEM43. Interacts with TMEM201 (By similarity). Proteolytically processed isoform A interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP. Interacts with DMPK; may regulate nuclear envelope stability. Interacts with SUV39H1; the interaction increases stability of SUV39H1. Interacts with SYNE2. Interacts with ITSN1 isoform 2 (PubMed:29599122).
    Miscellaneous:
    • There are three types of lamins in human cells: A, B, and C.
    • The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.
    • [Isoform 6]: Disease-associated isoform. Polymorphism at codon 608 results in activation of a cryptic splice donor site within exon 11, resulting in a truncated protein product that lacks the site for endoproteolytic cleavage.
    SequenceCaution:
    • Sequence=CAA27173.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMNA Gene

    Alternative splice isoforms for LMNA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMNA Gene

Protein Expression for LMNA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LMNA Gene

  • Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
  • Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the last three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15 C-terminal amino acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage.
  • Sumoylation is necessary for the localization to the nuclear envelope.
  • Farnesylation of prelamin-A/C facilitates nuclear envelope targeting.
  • Ubiquitination at Lys135, Lys144, Lys171, Lys181, Lys78, Lys201, Lys208, Lys108, Lys265, Lys270, Lys311, Lys470, and Lys486
  • Modification sites at PhosphoSitePlus

Other Protein References for LMNA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LMNA Gene

Domains & Families for LMNA Gene

Gene Families for LMNA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LMNA Gene

Blocks:
  • Intermediate filament protein
  • Intermediate filament, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LMNA Gene

GenScript: Design optimal peptide antigens:
  • Prelamin-A/C (LMNA_HUMAN)
  • Lamin A/C transcript variant 1 (Q5I6Y4_HUMAN)
  • Lamin A/C transcript variant 1 (Q5I6Y5_HUMAN)
  • Lamin A/C transcript variant 1 (Q5I6Y6_HUMAN)
  • Lamin A/C (Q5TCI9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02545

UniProtKB/Swiss-Prot:

LMNA_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNA: view

Function for LMNA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for LMNA Gene

UniProtKB/Swiss-Prot Function:
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).
UniProtKB/Swiss-Prot Function:
Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.
GENATLAS Biochemistry:
lamin,types A and C,common gene,alternatively spliced isoforms

Phenotypes From GWAS Catalog for LMNA Gene

Gene Ontology (GO) - Molecular Function for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10514485
genes like me logo Genes that share ontologies with LMNA: view
genes like me logo Genes that share phenotypes with LMNA: view

Human Phenotype Ontology for LMNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNA Gene

MGI Knock Outs for LMNA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMNA

Clone Products

  • Addgene plasmids for LMNA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMNA Gene

Localization for LMNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNA Gene

Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleavage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C.
[Isoform C]: Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMNA gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18809582
GO:0005635 nuclear envelope TAS,IMP --
GO:0005638 lamin filament IEA --
GO:0005652 nuclear lamina IEA --
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with LMNA: view

Pathways & Interactions for LMNA Gene

genes like me logo Genes that share pathways with LMNA: view

Pathways by source for LMNA Gene

2 Sino Biological pathways for LMNA Gene
1 PharmGKB pathway for LMNA Gene
2 GeneGo (Thomson Reuters) pathways for LMNA Gene
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
3 Qiagen pathways for LMNA Gene
  • Caspase Cascade
  • Fas Signaling
  • Granzyme Pathway
3 Cell Signaling Technology pathways for LMNA Gene

SIGNOR curated interactions for LMNA Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA --
GO:0006997 nucleus organization IEA --
GO:0006998 nuclear envelope organization IEA --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0008285 negative regulation of cell proliferation IMP 27534416
genes like me logo Genes that share ontologies with LMNA: view

Drugs & Compounds for LMNA Gene

Products:

  1. Drug

(13) Drugs for LMNA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for LMNA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNA: view

Transcripts for LMNA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LMNA Gene

7 REFSEQ mRNAs :
40 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMNA

Clone Products

  • Addgene plasmids for LMNA

Alternative Splicing Database (ASD) splice patterns (SP) for LMNA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for LMNA Gene

GeneLoc Exon Structure for
LMNA

Expression for LMNA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMNA Gene

mRNA expression in normal human tissues for LMNA Gene
mRNA expression by GTEx for LMNA GenemRNA expression by BioGPS for LMNA Gene

Protein differential expression in normal tissues from HIPED for LMNA Gene

This gene is overexpressed in Bone marrow stromal cell (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMNA Gene



Protein tissue co-expression partners for LMNA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMNA

SOURCE GeneReport for Unigene cluster for LMNA Gene:

Hs.594444

mRNA Expression by UniProt/SwissProt for LMNA Gene:

P02545-LMNA_HUMAN
Tissue specificity: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress.

Evidence on tissue expression from TISSUES for LMNA Gene

  • Kidney(5)
  • Lung(5)
  • Skin(5)
  • Nervous system(5)
  • Intestine(4.9)
  • Liver(4.9)
  • Pancreas(4.7)
  • Spleen(4.2)
  • Heart(4.1)
  • Muscle(3.8)
  • Lymph node(3.7)
  • Eye(3.6)
  • Bone(3.4)
  • Stomach(3.4)
  • Blood(3.2)
  • Adrenal gland(2.7)
  • Gall bladder(2.7)
  • Thyroid gland(2.7)
  • Bone marrow(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMNA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LMNA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LMNA Gene

Orthologs for LMNA Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LMNA 31 30
  • 99.65 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia LMNA 31 30
  • 92.67 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LMNA 31 30
  • 92.55 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia LMNA 31
  • 91 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia LMNA 31
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Lmna 17 31 30
  • 90.15 (n)
rat
(Rattus norvegicus)
 Mammalia Lmna 30
  • 83.59 (n)
chicken
(Gallus gallus)
 Aves -- 31
  • 47 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 67 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia lmna 30
  • 72.74 (n)
African clawed frog
(Xenopus laevis)
 Amphibia lmna-A 30
zebrafish
(Danio rerio)
 Actinopterygii lmna 31 30 30
  • 66.72 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta