Gene: EMD - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | EMD | ||||||||||||||||
NCBI Gene ID | : | 2010 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | EDMD | EMD | EMERIN | emerin | Emery-Dreifuss muscular dystrophy | LEM domain containing 5 | LEMD5 | STA | XX-FW88778H2.1 Source: GPSDB |
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Gene Homologs | : | EMD (Bos taurus) | EMD (Homo sapiens) | EMD (Macaca mulatta) | Emd (Mus musculus) | EMD (Pan troglodytes) | Emd (Rattus norvegicus) | LOC492249 (Canis lupus familiaris) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_000072 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
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Emerin | Homo sapiens | P50402 (UniProtKB/Swiss-Prot) | EMD_HUMAN (UniProtKB/Swiss-Prot) | Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C. | View |
EMD protein | Homo sapiens | Q6FI02 (UniProtKB/TrEMBL) | Q6FI02_HUMAN (UniProtKB/TrEMBL) | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
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1 | OB_009863 | Homo sapiens |
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EMD is likely involved in nuclear structure and stabilization. Mutations in EMD cause Emery-Dreifuss muscular dystrophy [0618]. Some mutations in LMNA also cause the same disease. The relation between EMD and LMNA, and the functions of EMD in the nuclear lamina [1307], may indicate a role for EMD in ageing, even though at present this is just an unproven hypothesis. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source | ||||||||||||||||||||||||
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1 | OB_008638 |
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1 | The HomoloGene homology group 91 contains 1 gene with experimental evidence for ageing relevance (EMD - Homo sapiens) and 6 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 91 |
Sequences
EMD_HUMAN | P50402 | Emerin (Homo sapiens) from UniProtKB/Swiss-Prot Length: 254 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 EMD_HUMAN 1 MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF 254
Q6FI02_HUMAN | Q6FI02 | EMD protein (Homo sapiens) from UniProtKB/TrEMBL Length: 254 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 Q6FI02_HUMAN 1 MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF 254
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D:
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
Nat Genet. 1994; 8: 323-7.
PubMed (ID: 7894480), doi:10.1038/ng1294-323
MeSH Terms: Genetic Linkage; Membrane Proteins/genetics; Muscular Dystrophies/genetics; Thymopoietins/genetics; X Chromosome - Zastrow MS, Vlcek S, Wilson KL:
Proteins that bind A-type lamins: integrating isolated clues.
J Cell Sci. 2004; 117: 979-87.
PubMed (ID: 14996929), doi:10.1242/jcs.01102
MeSH Terms: Carrier Proteins/metabolism; Lamin Type A/metabolism - Gruenbaum Y, Margalit A, Goldman RD, Shumaker DK, Wilson KL:
The nuclear lamina comes of age.
Nat Rev Mol Cell Biol. 2005; 6: 21-31.
PubMed (ID: 15688064), doi:10.1038/nrm1550
MeSH Terms: Lamins/physiology; Nuclear Lamina/physiology - Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK:
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.
Genes Dev. 2006; 20: 486-500.
PubMed (ID: 16481476), PubMed Central (ID: PMC1369050), doi:10.1101/gad.1364906
MeSH Terms: Cell Differentiation/physiology; Gene Expression Regulation; Lamin Type A/genetics; Membrane Proteins/genetics; Muscular Dystrophies/genetics; Satellite Cells, Skeletal Muscle/physiology; Thymopoietins/genetics
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot
- UniProtKB/TrEMBL