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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]
LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant. Among its related pathways are Neurodegenerative Diseases and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 10514485 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 18809582 |
GO:0005635 | nuclear envelope | IMP,TAS | -- |
GO:0005638 | lamin filament | IEA | -- |
GO:0005652 | nuclear lamina | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis and survival Caspase cascade |
Apoptosis and survival Caspase cascade
.44
Apoptosis and survival FAS signaling cascades
.44
|
|
2 | Apoptotic execution phase |
.31
|
|
3 | Cell Cycle, Mitotic |
.83
|
.60
|
4 | Unfolded Protein Response (UPR) | ||
5 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LMNA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LMNA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LMNA 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LMNA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LMNA 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lmna 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lmna 30 |
|
||
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lmna 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | lmna-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lmna 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008015 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Lam 31 32 |
|
ManyToMany | |
LamC 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | lmn-1 31 32 |
|
OneToMany | |
ifb-1 32 |
|
|
|||
ifa-2 32 |
|
|
|||
ifa-4 32 |
|
|
|||
ifb-2 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8283 31 |
|
OneToMany |