Nucleus {Experimental EvidencePubMed:15372542, Experimental EvidencePubMed:31548606}. Nucleus envelope {Experimental EvidencePubMed:29599122}. Nucleus lamina. Nucleus, nucleoplasm. Nucleus matrix {Experimental EvidencePubMed:31548606}. 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 {ECO:0000269|PubMed:16061563}.
The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
The nuclear lamina is a meshwork of intermediate filament proteins called lamins and lamin-binding proteins that are embedded in the inner nuclear membrane.
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {Experimental EvidencePubMed:10080180, Experimental EvidencePubMed:10739764, Experimental EvidencePubMed:10814726, Experimental EvidencePubMed:10908904, Experimental EvidencePubMed:10939567, Experimental EvidencePubMed:11503164, Experimental EvidencePubMed:11525883, Experimental EvidencePubMed:11792809, Experimental EvidencePubMed:12032588, Experimental EvidencePubMed:12467752, Experimental EvidencePubMed:12649505, Experimental EvidencePubMed:12673789, Experimental EvidencePubMed:14684700, Experimental EvidencePubMed:14985400, Experimental EvidencePubMed:15372542, Experimental EvidencePubMed:15744034, Experimental EvidencePubMed:17136397, Experimental EvidencePubMed:19933576, Experimental EvidencePubMed:20848652, Experimental EvidencePubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry. Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {Experimental EvidencePubMed:22431096, Experimental EvidencePubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {Experimental EvidencePubMed:10580070, Experimental EvidencePubMed:11561226, Experimental EvidencePubMed:11792809, Experimental EvidencePubMed:11897440, Experimental EvidencePubMed:12486434, Experimental EvidencePubMed:12628721, Experimental EvidencePubMed:12920062, Experimental EvidencePubMed:14675861, Experimental EvidencePubMed:14684700, Experimental EvidencePubMed:15140538, Experimental EvidencePubMed:15219508, Experimental EvidencePubMed:15372542, Experimental EvidencePubMed:16061563, Experimental EvidencePubMed:18606848, Experimental EvidencePubMed:19167105, Experimental EvidencePubMed:20160190, Experimental EvidencePubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry. Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. {Experimental EvidencePubMed:10587585, Experimental EvidencePubMed:10655060, Experimental EvidencePubMed:10739751, Experimental EvidencePubMed:11792809, Experimental EvidencePubMed:12015247, Experimental EvidencePubMed:12196663, Experimental EvidencePubMed:12629077, Experimental EvidencePubMed:15372542, Experimental EvidencePubMed:17250669, Experimental EvidencePubMed:19220582, Experimental EvidencePubMed:24485160}. Note=The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {Experimental EvidencePubMed:11799477}. Note=The disease is caused by variants affecting the gene represented in this entry. Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]: Rare genetic disorder characterized by features reminiscent of marked premature aging. {Experimental EvidencePubMed:12714972, Experimental EvidencePubMed:12768443, Experimental EvidencePubMed:12927431, Experimental EvidencePubMed:15060110, Experimental EvidencePubMed:15286156, Experimental EvidencePubMed:15622532, Experimental EvidencePubMed:19933576, Experimental EvidencePubMed:21791255, Experimental EvidencePubMed:22355414, Experimental EvidencePubMed:23666920}. Note=The disease is caused by variants affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972). {Experimental EvidencePubMed:12714972}. Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]: A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. {Experimental EvidencePubMed:12927431, ECO:0000269|PubMed:17150192, ECO:0000269|PubMed:19283854}. Note=The disease is caused by variants affecting the gene represented in this entry. Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]: A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. {ECO:0000269|PubMed:12075506, ECO:0000269|PubMed:15998779, ECO:0000269|PubMed:16278265}. Note=The disease is caused by variants affecting the gene represented in this entry. Restrictive dermopathy 2 (RSDM2) [MIM:619793]: An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {ECO:0000269|PubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry. Heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. {ECO:0000269|PubMed:18611980}. Note=The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269|PubMed:18551513}. Note=The disease is caused by variants affecting the gene represented in this entry. Note=Defects in LMNA may cause a late-onset cardiocutaneous progeria syndrome characterized by cutaneous manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction, prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade. {Experimental EvidencePubMed:23666920}.
Keratin-associated protein 10-7 (High sulfur keratin-associated protein 10.7) (Keratin-associated protein 10.7) (Keratin-associated protein 18-7) (Keratin-associated protein 18.7)
Replication protein A 70 kDa DNA-binding subunit (RP-A p70) (Replication factor A protein 1) (RF-A protein 1) (Single-stranded DNA-binding protein) [Cleaved into: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed]
AT-rich interactive domain-containing protein 3A (ARID domain-containing protein 3A) (B-cell regulator of IgH transcription) (Bright) (Dead ringer-like protein 1) (E2F-binding protein 1)
DNA-directed RNA polymerase III subunit RPC3 (RNA polymerase III subunit C3) (DNA-directed RNA polymerase III subunit C) (RNA polymerase III 62 kDa subunit) (RPC62)
Zinc finger protein with KRAB and SCAN domains 3 (Zinc finger and SCAN domain-containing protein 13) (Zinc finger protein 306) (Zinc finger protein 309) (Zinc finger protein 47 homolog) (Zf47) (Zfp-47)
Choline-phosphate cytidylyltransferase A (EC 2.7.7.15) (CCT-alpha) (CTP:phosphocholine cytidylyltransferase A) (CCT A) (CT A) (Phosphorylcholine transferase A)
A-kinase anchor protein 8-like (AKAP8-like protein) (Helicase A-binding protein 95) (HAP95) (Homologous to AKAP95 protein) (HA95) (Neighbor of A-kinase-anchoring protein 95) (Neighbor of AKAP95)
Survival of motor neuron-related-splicing factor 30 (30 kDa splicing factor SMNrp) (SMN-related protein) (Survival motor neuron domain-containing protein 1)
Kinase non-catalytic C-lobe domain-containing protein 1 (KIND domain-containing protein 1) (Cerebral protein 9) (Protein very KIND) (v-KIND) (Ras-GEF domain-containing family member 2)
Protein HEXIM1 (Cardiac lineage protein 1) (Estrogen down-regulated gene 1 protein) (Hexamethylene bis-acetamide-inducible protein 1) (Menage a quatre protein 1)
A-kinase anchor protein 10, mitochondrial (AKAP-10) (Dual specificity A kinase-anchoring protein 2) (D-AKAP-2) (Protein kinase A-anchoring protein 10) (PRKA10)
Telomere zinc finger-associated protein (TZAP) (Krueppel-related zinc finger protein 3) (hKR3) (Zinc finger and BTB domain-containing protein 48) (Zinc finger protein 855)
RING1 and YY1-binding protein (Apoptin-associating protein 1) (APAP-1) (Death effector domain-associated factor) (DED-associated factor) (YY1 and E4TF1-associated factor 1)
Atlastin-1 (EC 3.6.5.-) (Brain-specific GTP-binding protein) (GTP-binding protein 3) (GBP-3) (hGBP3) (Guanine nucleotide-binding protein 3) (Spastic paraplegia 3 protein A)
POZ-, AT hook-, and zinc finger-containing protein 1 (BTB/POZ domain zinc finger transcription factor) (Protein kinase A RI subunit alpha-associated protein) (Zinc finger and BTB domain-containing protein 19) (Zinc finger protein 278) (Zinc finger sarcoma gene protein)
DNA-binding protein RFXANK (Ankyrin repeat family A protein 1) (Regulatory factor X subunit B) (RFX-B) (Regulatory factor X-associated ankyrin-containing protein)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory