PMID- 10601333
OWN - NLM
STAT- MEDLINE
DCOM- 20000111
LR  - 20190508
IS  - 0021-9525 (Print)
IS  - 0021-9525 (Linking)
VI  - 147
IP  - 6
DP  - 1999 Dec 13
TI  - Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular
      atrophy gene product, and is a component of gems.
PG  - 1181-94
AB  - The survival of motor neurons (SMN) gene is the disease gene of spinal muscular
      atrophy (SMA), a common motor neuron degenerative disease. The SMN protein is
      part of a complex containing several proteins, of which one, SIP1 (SMN
      interacting protein 1), has been characterized so far. The SMN complex is found
      in both the cytoplasm and in the nucleus, where it is concentrated in bodies
      called gems. In the cytoplasm, SMN and SIP1 interact with the Sm core proteins of
      spliceosomal small nuclear ribonucleoproteins (snRNPs), and they play a critical 
      role in snRNP assembly. In the nucleus, SMN is required for pre-mRNA splicing,
      likely by serving in the regeneration of snRNPs. Here, we report the
      identification of another component of the SMN complex, a novel DEAD box putative
      RNA helicase, named Gemin3. Gemin3 interacts directly with SMN, as well as with
      SmB, SmD2, and SmD3. Immunolocalization studies using mAbs to Gemin3 show that it
      colocalizes with SMN in gems. Gemin3 binds SMN via its unique COOH-terminal
      domain, and SMN mutations found in some SMA patients strongly reduce this
      interaction. The presence of a DEAD box motif in Gemin3 suggests that it may
      provide the catalytic activity that plays a critical role in the function of the 
      SMN complex on RNPs.
FAU - Charroux, B
AU  - Charroux B
AD  - Howard Hughes Medical Institute and Department of Biochemistry and Biophysics,
      University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
      19104-6148, USA.
FAU - Pellizzoni, L
AU  - Pellizzoni L
FAU - Perkinson, R A
AU  - Perkinson RA
FAU - Shevchenko, A
AU  - Shevchenko A
FAU - Mann, M
AU  - Mann M
FAU - Dreyfuss, G
AU  - Dreyfuss G
LA  - eng
SI  - GENBANK/AF171063
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Cell Biol
JT  - The Journal of cell biology
JID - 0375356
RN  - 0 (Antibodies, Monoclonal)
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
RN  - 0 (GEMIN2 protein, human)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Ribonucleoproteins, Small Nuclear)
RN  - 0 (SMN Complex Proteins)
RN  - EC 3.6.1.- (DDX20 protein, human)
RN  - EC 3.6.1.- (DEAD Box Protein 20)
RN  - EC 3.6.4.13 (DEAD-box RNA Helicases)
RN  - EC 3.6.4.13 (RNA Helicases)
SB  - IM
MH  - Amino Acid Motifs
MH  - Amino Acid Sequence
MH  - Antibodies, Monoclonal/immunology
MH  - Blotting, Western
MH  - Cloning, Molecular
MH  - Cyclic AMP Response Element-Binding Protein
MH  - Cytoplasm/chemistry/enzymology
MH  - DEAD Box Protein 20
MH  - DEAD-box RNA Helicases
MH  - HeLa Cells
MH  - Humans
MH  - Molecular Sequence Data
MH  - Molecular Weight
MH  - Muscular Atrophy, Spinal/*genetics
MH  - Nerve Tissue Proteins/analysis/genetics/*metabolism
MH  - Organelles/*chemistry/enzymology
MH  - Precipitin Tests
MH  - Protein Binding
MH  - RNA Helicases/*chemistry/genetics/immunology/*metabolism
MH  - RNA-Binding Proteins
MH  - Recombinant Fusion Proteins/chemistry/metabolism
MH  - Ribonucleoproteins, Small Nuclear/metabolism
MH  - SMN Complex Proteins
MH  - Sequence Alignment
MH  - Sequence Deletion/genetics
MH  - Spliceosomes/chemistry/metabolism
PMC - PMC2168095
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - 10.1083/jcb.147.6.1181 [doi]
PST - ppublish
SO  - J Cell Biol. 1999 Dec 13;147(6):1181-94. doi: 10.1083/jcb.147.6.1181.