Entry - *601304 - SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13 - OMIM
 
* 601304

SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13


Alternative titles; symbols

NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1
NHP2-LIKE PROTEIN 1
U4/U6-15.5K PROTEIN
15.5K


HGNC Approved Gene Symbol: SNU13

Cytogenetic location: 22q13.2     Genomic coordinates (GRCh38): 22:41,673,933-41,690,480 (from NCBI)


TEXT

Description

NHP2L1 is a component of the spliceosome complex. It is recruited to introns following the attachment of U4 and U6 (180692) RNAs, and is required for subsequent recruitment of PRP31 (606419) and activation of the spliceosomal complex (summary by Liu et al., 2007).


Cloning and Expression

In the course of sequencing cDNA clones from fetal brain cDNA libraries, Saito et al. (1996) isolated a gene that encodes a protein highly homologous to NHP2 from Saccharomyces cerevisiae (Kolodrubetz and Burgum, 1991). NHP2 is a high-mobility group (HMG)-like protein which is located in the nucleus, although it shows weak homology to some ribosomal proteins. Saito et al. (1996) determined that the deduced NHP2L1 protein contains 128 amino acids. Northern blot analysis detected transcripts of 1.6 and 0.7 in all tissues examined.


Biochemical Features

Crystal Structure

Liu et al. (2007) reported the crystal structure of a complex of 15.5K, the U4 5-prime stem loop structure, and a PRPF31 fragment to 2.6-angstrom resolution. The PRP31 fragment included the NOP domain and coiled-coil region. 15.5K stabilized the RNA K-turn region for PRP31 addition, and the NOP domain of PRP31 interacted with both 15.5K and the RNA. The conformation of the core 15.5K-RNA complex was unaffected by the addition of PRPF31.


Mapping

Saito et al. (1996) localized the NHP2L1 gene to chromosome 12q24.3 by fluorescence in situ hybridization. However, Gross (2011) mapped the NHP2L1 gene to chromosome 22q13.2 based on an alignment of the NHP2L1 sequence (GenBank BC005358) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 2/10/2011.

  2. Kolodrubetz, D., Burgum, A. Sequence and genetic analysis of NHP2: a moderately abundant high mobility group-like nuclear protein with an essential function in Saccharomyces cerevisiae. Yeast 7: 79-90, 1991. [PubMed: 2063628, related citations] [Full Text]

  3. Liu, S., Li, P., Dybkov, O., Nottrott, S., Hartmuth, K., Luhrmann, R., Carlomagno, T., Wahl, M. C. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science 316: 115-120, 2007. [PubMed: 17412961, related citations] [Full Text]

  4. Saito, H., Fujiwara, T., Shin, S., Okui, K., Nakamura, Y. Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a protein highly homologous to yeast nuclear protein NHP2. Cytogenet. Cell Genet. 72: 191-193, 1996. [PubMed: 8978773, related citations] [Full Text]


Matthew B. Gross - updated : 02/10/2011
Patricia A. Hartz - updated : 4/25/2007
Creation Date:
Victor A. McKusick : 6/11/1996
alopez : 10/10/2016
ckniffin : 10/10/2016
mgross : 02/10/2011
alopez : 4/25/2007
alopez : 8/19/1999
terry : 7/24/1996
mark : 6/11/1996

* 601304

SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13


Alternative titles; symbols

NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1
NHP2-LIKE PROTEIN 1
U4/U6-15.5K PROTEIN
15.5K


HGNC Approved Gene Symbol: SNU13

Cytogenetic location: 22q13.2     Genomic coordinates (GRCh38): 22:41,673,933-41,690,480 (from NCBI)


TEXT

Description

NHP2L1 is a component of the spliceosome complex. It is recruited to introns following the attachment of U4 and U6 (180692) RNAs, and is required for subsequent recruitment of PRP31 (606419) and activation of the spliceosomal complex (summary by Liu et al., 2007).


Cloning and Expression

In the course of sequencing cDNA clones from fetal brain cDNA libraries, Saito et al. (1996) isolated a gene that encodes a protein highly homologous to NHP2 from Saccharomyces cerevisiae (Kolodrubetz and Burgum, 1991). NHP2 is a high-mobility group (HMG)-like protein which is located in the nucleus, although it shows weak homology to some ribosomal proteins. Saito et al. (1996) determined that the deduced NHP2L1 protein contains 128 amino acids. Northern blot analysis detected transcripts of 1.6 and 0.7 in all tissues examined.


Biochemical Features

Crystal Structure

Liu et al. (2007) reported the crystal structure of a complex of 15.5K, the U4 5-prime stem loop structure, and a PRPF31 fragment to 2.6-angstrom resolution. The PRP31 fragment included the NOP domain and coiled-coil region. 15.5K stabilized the RNA K-turn region for PRP31 addition, and the NOP domain of PRP31 interacted with both 15.5K and the RNA. The conformation of the core 15.5K-RNA complex was unaffected by the addition of PRPF31.


Mapping

Saito et al. (1996) localized the NHP2L1 gene to chromosome 12q24.3 by fluorescence in situ hybridization. However, Gross (2011) mapped the NHP2L1 gene to chromosome 22q13.2 based on an alignment of the NHP2L1 sequence (GenBank BC005358) with the genomic sequence (GRCh37).


REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 2/10/2011.

  2. Kolodrubetz, D., Burgum, A. Sequence and genetic analysis of NHP2: a moderately abundant high mobility group-like nuclear protein with an essential function in Saccharomyces cerevisiae. Yeast 7: 79-90, 1991. [PubMed: 2063628] [Full Text: https://doi.org/10.1002/yea.320070202]

  3. Liu, S., Li, P., Dybkov, O., Nottrott, S., Hartmuth, K., Luhrmann, R., Carlomagno, T., Wahl, M. C. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science 316: 115-120, 2007. [PubMed: 17412961] [Full Text: https://doi.org/10.1126/science.1137924]

  4. Saito, H., Fujiwara, T., Shin, S., Okui, K., Nakamura, Y. Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a protein highly homologous to yeast nuclear protein NHP2. Cytogenet. Cell Genet. 72: 191-193, 1996. [PubMed: 8978773] [Full Text: https://doi.org/10.1159/000134186]


Contributors:
Matthew B. Gross - updated : 02/10/2011
Patricia A. Hartz - updated : 4/25/2007

Creation Date:
Victor A. McKusick : 6/11/1996

Edit History:
alopez : 10/10/2016
ckniffin : 10/10/2016
mgross : 02/10/2011
alopez : 4/25/2007
alopez : 8/19/1999
terry : 7/24/1996
mark : 6/11/1996