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HUMAN:LMNA
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | LMNA (synonyms: LMN1) | |
Protein Name(s) | Prelamin-A/C
Lamin-A/C 70 kDa lamin Renal carcinoma antigen NY-REN-32 | |
External Links | ||
UniProt | P02545 | |
EMBL | X03444 X03445 M13451 M13452 AY847597 AY847595 AY357727 AK295390 AL135927 AL135927 AL355388 AL356734 CH471121 CH471121 BC000511 BC003162 BC014507 AF381029 | |
CCDS | CCDS1129.1 CCDS1131.1 CCDS58038.1 CCDS72941.1 | |
PIR | A02961 A02962 | |
RefSeq | NP_001244303.1 NP_001269553.1 NP_001269554.1 NP_001269555.1 NP_005563.1 NP_733821.1 NP_733822.1 | |
UniGene | Hs.594444 Hs.706897 Hs.733671 | |
PDB | 1IFR 1IVT 1X8Y 2XV5 2YPT 3GEF 3V4Q 3V4W 3V5B | |
PDBsum | 1IFR 1IVT 1X8Y 2XV5 2YPT 3GEF 3V4Q 3V4W 3V5B | |
DisProt | DP00716 | |
ProteinModelPortal | P02545 | |
SMR | P02545 | |
BioGrid | 110186 | |
DIP | DIP-32948N DIP-58162N | |
IntAct | P02545 | |
MINT | MINT-5003995 | |
STRING | 9606.ENSP00000357283 | |
ChEMBL | CHEMBL1293235 | |
PhosphoSite | P02545 | |
DMDM | 125962 | |
REPRODUCTION-2DPAGE | IPI00021405 IPI00216952 P02545 | |
SWISS-2DPAGE | P02545 | |
MaxQB | P02545 | |
PaxDb | P02545 | |
PeptideAtlas | P02545 | |
PRIDE | P02545 | |
DNASU | 4000 | |
Ensembl | ENST00000347559 ENST00000368299 ENST00000368300 ENST00000368301 ENST00000448611 ENST00000473598 ENST00000508500 | |
GeneID | 4000 | |
KEGG | hsa:4000 | |
UCSC | uc001fnf.1 uc001fnh.3 uc001fni.3 uc009wro.2 | |
CTD | 4000 | |
GeneCards | GC01P156053 | |
GeneReviews | LMNA | |
HGNC | HGNC:6636 | |
HPA | CAB004022 HPA006660 HPA012078 | |
MIM | 115200 150330 151660 159001 176670 181350 212112 248370 275210 605588 610140 613205 | |
neXtProt | NX_P02545 | |
Orphanet | 79474 280365 98853 264 98855 98856 157973 2229 300751 293899 293888 293910 2348 79084 168796 740 137871 54260 1662 363618 90153 99706 | |
PharmGKB | PA231 | |
eggNOG | NOG325506 | |
GeneTree | ENSGT00760000118905 | |
HOVERGEN | HBG013015 | |
InParanoid | P02545 | |
KO | K12641 | |
OMA | HCSGSGD | |
OrthoDB | EOG7MD4PW | |
PhylomeDB | P02545 | |
TreeFam | TF101181 | |
Reactome | REACT_13472 REACT_160242 REACT_160251 REACT_18273 REACT_200828 REACT_75792 | |
ChiTaRS | LMNA | |
EvolutionaryTrace | P02545 | |
GeneWiki | LMNA | |
GenomeRNAi | 4000 | |
NextBio | 15692 | |
PMAP-CutDB | P02545 | |
PRO | PR:P02545 | |
Proteomes | UP000005640 | |
Bgee | P02545 | |
CleanEx | HS_LMNA | |
ExpressionAtlas | P02545 | |
Genevestigator | P02545 | |
GO | GO:0005737 GO:0005829 GO:0005882 GO:0005638 GO:0005635 GO:0005652 GO:0016607 GO:0005654 GO:0005634 GO:0048471 GO:0005198 GO:0006987 GO:0006915 GO:0006921 GO:0044267 GO:0071456 GO:0030968 GO:0030951 GO:0000278 GO:0007077 GO:0007084 GO:0007517 GO:2001237 GO:0090201 GO:0090343 GO:0034504 GO:0030334 GO:1900180 GO:0035105 GO:0055015 | |
Gene3D | 2.60.40.1260 | |
InterPro | IPR001664 IPR018039 IPR001322 | |
PANTHER | PTHR23239 | |
Pfam | PF00038 PF00932 | |
SUPFAM | SSF74853 | |
PROSITE | PS00226 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
GO:0005634 |
nucleus |
ECO:0000314 |
C |
Organism: Homo sapiens. Paper’s Protein Name: Lamin A/C. UniProt’s Protein Name: Prelamin-A/C. (According to UniProt, this is cleaved into the chain Lamin A/C. Regardless, the official location of Lamin A/C on UniProt is this page.) Notes: Figure 4B is used. MCF-7 cells (which are human) have their nuclei stained blue and are also immunostained so that Lamin A/C will appear green. As can be seen in the micrographs, there is significant overlap of these colors. While Lamin A/C appears to be more vividly colored when the cells are exposed to sulforaphane, it nevertheless can be seen even in the control. Therefore, a non-transient link is established between Lamin A/C and the nucleus. |
complete | |||||
colocalizes_with |
GO:0005635 |
nuclear envelope |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:1903243 |
negative regulation of cardiac muscle hypertrophy in response to stress |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0002535)|part_of:(CL:0002518)|part_of:(CL:0002620) |
Seeded From UniProt |
complete | ||
part_of |
GO:0005635 |
nuclear envelope |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
part_of:(CL:0002535)|part_of:(CL:0002518)|part_of:(CL:0002620) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
part_of:(CL:0002518) |
Seeded From UniProt |
complete | ||
part_of |
GO:0031965 |
nuclear membrane |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0030951 |
establishment or maintenance of microtubule cytoskeleton polarity |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0030334 |
regulation of cell migration |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0090343 |
positive regulation of cell aging |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071456 |
cellular response to hypoxia |
ECO:0000270 |
expression pattern evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0034504 |
protein localization to nucleus |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005635 |
nuclear envelope |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:2001237 |
negative regulation of extrinsic apoptotic signaling pathway |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:1903243 |
negative regulation of cardiac muscle hypertrophy in response to stress |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:1900180 |
regulation of protein localization to nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:1900114 |
positive regulation of histone H3-K9 trimethylation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0090201 |
negative regulation of release of cytochrome c from mitochondria |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0072201 |
negative regulation of mesenchymal cell proliferation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0055015 |
ventricular cardiac muscle cell development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0034504 |
protein localization to nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0031965 |
nuclear membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0031647 |
regulation of protein stability |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030951 |
establishment or maintenance of microtubule cytoskeleton polarity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030334 |
regulation of cell migration |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010628 |
positive regulation of gene expression |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006998 |
nuclear envelope organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006997 |
nucleus organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006606 |
protein import into nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005638 |
lamin filament |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005635 |
nuclear envelope |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P48678 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0005198 |
structural molecule activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005882 |
intermediate filament |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0032204 |
regulation of telomere maintenance |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0034613 |
cellular protein localization |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
has_input:(UniProtKB:P02545-1)|has_input:(UniProtKB:P02545-2) |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0048471 |
perinuclear region of cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007517 |
muscle organ development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0032204 |
regulation of telomere maintenance |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0048471 |
perinuclear region of cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007517 |
muscle organ development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006998 |
nuclear envelope organization |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0036498 |
IRE1-mediated unfolded protein response |
Reactome:R-HSA-381070 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007084 |
mitotic nuclear envelope reassembly |
Reactome:R-HSA-2995410 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-2995376 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005654 |
nucleoplasm |
Reactome:R-HSA-5244669 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
part_of |
GO:0005635 |
nuclear envelope |
Reactome:R-HSA-264865 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005882 |
intermediate filament |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005652 |
nuclear lamina |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016607 |
nuclear speck |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005635 |
nuclear envelope |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005882 |
intermediate filament |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005652 |
nuclear lamina |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005638 |
lamin filament |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | ||
enables |
GO:0005198 |
structural molecule activity |
PMID:8344919[14] |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
F |
Seeded From UniProt |
complete | |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Lewinska, A et al. (2017) Phytochemical-induced nucleolar stress results in the inhibition of breast cancer cell proliferation. Redox Biol 12 469-482 PubMed GONUTS page
- ↑ Gudise, S et al. (2011) Samp1 is functionally associated with the LINC complex and A-type lamina networks. J. Cell. Sci. 124 2077-85 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 3.3 3.4 Piekarowicz, K et al. (2017) The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells. Chromosoma 126 501-517 PubMed GONUTS page
- ↑ 4.0 4.1 Sigal, A et al. (2006) Dynamic proteomics in individual human cells uncovers widespread cell-cycle dependence of nuclear proteins. Nat. Methods 3 525-31 PubMed GONUTS page
- ↑ Ragnauth, CD et al. (2010) Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging. Circulation 121 2200-10 PubMed GONUTS page
- ↑ 6.0 6.1 Chen, B et al. (2010) Hypoxia downregulates p53 but induces apoptosis and enhances expression of BAD in cultures of human syncytiotrophoblasts. Am. J. Physiol., Cell Physiol. 299 C968-76 PubMed GONUTS page
- ↑ Zhang, YQ & Sarge, KD (2008) Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. J. Cell Biol. 182 35-9 PubMed GONUTS page
- ↑ Maggi, LB Jr et al. (2008) Nucleophosmin serves as a rate-limiting nuclear export chaperone for the Mammalian ribosome. Mol. Cell. Biol. 28 7050-65 PubMed GONUTS page
- ↑ 9.0 9.1 Wood, AM et al. (2014) TRF2 and lamin A/C interact to facilitate the functional organization of chromosome ends. Nat Commun 5 5467 PubMed GONUTS page
- ↑ Kaczmarski, W et al. (2014) Intracellular distribution of differentially phosphorylated dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). J. Neurosci. Res. 92 162-73 PubMed GONUTS page
- ↑ 11.0 11.1 11.2 11.3 11.4 11.5 Bonne, G et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21 285-8 PubMed GONUTS page
- ↑ Sahni, N et al. (2015) Widespread macromolecular interaction perturbations in human genetic disorders. Cell 161 647-660 PubMed GONUTS page
- ↑ 13.0 13.1 13.2 13.3 McKeon, FD et al. () Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319 463-8 PubMed GONUTS page
- ↑ 14.0 14.1 14.2 14.3 14.4 14.5 Lin, F & Worman, HJ (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268 16321-6 PubMed GONUTS page
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- GO:0072201 ! negative regulation of mesenchymal cell proliferation
- GO:0090201 ! negative regulation of release of cytochrome c from mitochondria
- GO:2001237 ! negative regulation of extrinsic apoptotic signaling pathway
- GO:0008285 ! negative regulation of cell population proliferation
- GO:1903243 ! negative regulation of cardiac muscle hypertrophy in response to stress
- GO:0006998 ! nuclear envelope organization
- GO:0005635 ! nuclear envelope
- GO:0005652 ! nuclear lamina
- GO:0031965 ! nuclear membrane
- GO:0016607 ! nuclear speck
- GO:0005654 ! nucleoplasm
- GO:0005634 ! nucleus
- GO:0006997 ! nucleus organization
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