LEM domain-containing protein 3

From Wikipedia, the free encyclopedia
LEMD3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLEMD3, MAN1, LEM domain containing 3, LEM domain-containing protein 3
External IDsOMIM: 607844 MGI: 3580376 HomoloGene: 8633 GeneCards: LEMD3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014319
NM_001167614

NM_001081193

RefSeq (protein)

NP_001161086
NP_055134
NP_055134.2

NP_001074662

Location (UCSC)Chr 12: 65.17 – 65.25 MbChr 10: 120.76 – 120.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the LEMD3 gene[5] and was first identified after it was isolated from the serum of a patient with a collagen vascular disease.[6]

Structure[]

The protein is 82.3 kDa and has a 40 amino acid long domain located at its amino-terminal region. In its carboxyl end it has a RNA recognition motif (RRM). The LEM domain is also common to two other integral proteins of the INM: (LAP2) and emerin.[7]

The LEM segment enables LEMD3 to attach to the barrier-to-autointegration factor (BAF), and therefore, indirectly interact with the chromatin. LEMD3 also has several implications in regulating the cytokine family such as the transforming growth factor beta (TGF-β) and bone morphogenic protein (BMPs). The RRM domain in its carboxylic region attaches to the proteins, which is involved in mediating TGF-β cellular signalling. Consequently, LEMD3 indirectly regulates downstream genes.

LEMD3 seems to play an important role in regulating the expression of several fundamental genes.

LEMD3 and disease[]

LEMD3 has been associated with laminopathies[5] as well as osteopoikilosis.[8] Mutations in the LEMD3 gene have been linked to several genetic diseases such as osteopoikilosis, melorheostosis and Buschke-Ollendorff syndrome.

See also[]

Inner nuclear membrane proteins

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174106 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048661 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Worman HJ, Fong LG, Muchir A, Young SG (July 2009). "Laminopathies and the long strange trip from basic cell biology to therapy". The Journal of Clinical Investigation. 119 (7): 1825–36. doi:10.1172/JCI37679. PMC 2701866. PMID 19587457.
  6. ^ Paulin-Levasseur M, Blake DL, Julien M, Rouleau L (1996). "The MAN antigens are non-lamin constituents of the nuclear lamina in vertebrate cells". Chromosoma. 104 (5): 367–79. doi:10.1007/BF00337226. PMID 8575249. S2CID 13727509.
  7. ^ Lin F, Blake DL, Callebaut I, Skerjanc IS, Holmer L, McBurney MW, Paulin-Levasseur M, Worman HJ (February 2000). "MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin". The Journal of Biological Chemistry. 275 (7): 4840–7. doi:10.1074/jbc.275.7.4840. PMID 10671519.
  8. ^ Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP (February 2007). "Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis". Journal of Bone and Mineral Research. 22 (2): 243–50. doi:10.1359/jbmr.061102. PMID 17087626. S2CID 28338454.

External links[]

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