Entry - *185640 - RIBOSOMAL PROTEIN L7a; RPL7A - OMIM
 
* 185640

RIBOSOMAL PROTEIN L7a; RPL7A


Alternative titles; symbols

SURFEIT 3; SURF3


HGNC Approved Gene Symbol: RPL7A

Cytogenetic location: 9q34.2     Genomic coordinates (GRCh38): 9:133,348,218-133,351,426 (from NCBI)


TEXT

The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466).


Cloning and Expression

Giallongo et al. (1989) demonstrated that the SURF3 gene encodes the L7a ribosomal protein. The first 2 exons of the human SURF3 gene have been found to be capable of activating the TRK oncogene (see 191315). The SURF3 gene appears to be the only intron-containing member of the surfeit family cluster on chromosome 9q34 (see SURF1, 185620).


Gene Structure

Angiolillo et al. (2002) determined that transcription start sites of the MED22 (185641) and RPL7A genes are separated by a 110-bp region that shows bidirectional promoter activity. This promoter region lacks a TATA box but is characterized by a CpG island that extends through the first exon into the first intron of both genes.


Mapping

Yon et al. (1993) mapped the RPLA7 gene to chromosome 9q34.1. Kenmochi et al. (1998) confirmed the mapping assignment.


Molecular Genetics

Mor et al. (1996) described a common polymorphism in the surfeit gene cluster that was of interest because it occurs in the TSC1 (191100) region of chromosome 9q34. By database analysis, Smith (1997) found that the polymorphism reported by Mor et al. (1996) is due to mutation in the SURF3 gene.


REFERENCES

  1. Angiolillo, A., Russo, G., Procellini, A., Smaldone, S., D'Alessandro, F., Pietropaolo, C. The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts. Gene 284: 169-178, 2002. [PubMed: 11891058, related citations] [Full Text]

  2. Giallongo, A., Yon, J., Fried, M. The ribosomal protein L7a is encoded by a gene (Surf-3) within the tightly clustered mouse surfeit locus. Molec. Cell. Biol. 9: 224-231, 1989. [PubMed: 2648130, related citations] [Full Text]

  3. Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. A map of 75 human ribosomal protein genes. Genome Res. 8: 509-523, 1998. [PubMed: 9582194, related citations] [Full Text]

  4. Mor, O., Duhig, T., Fried, M. A high frequency polymorphism in the candidate region for tuberous sclerosis 1 (TSC1) at 9q34. Ann. Hum. Genet. 60: 259-260, 1996. [PubMed: 8800442, related citations] [Full Text]

  5. Smith, M. Personal Communication. Baltimore, Md. 1/2/1997.

  6. Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M. The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1. Hum. Molec. Genet. 2: 237-240, 1993. [PubMed: 8499913, related citations] [Full Text]


Patricia A. Hartz - updated : 10/30/2008
Patti M. Sherman - updated : 9/21/2000
Moyra Smith - updated : 1/2/1997
Creation Date:
Victor A. McKusick : 8/29/1989
wwang : 10/30/2008
terry : 10/30/2008
carol : 8/20/2008
carol : 2/24/2004
psherman : 9/21/2000
psherman : 9/10/1999
psherman : 2/2/1999
terry : 8/12/1998
mark : 1/2/1997
carol : 9/13/1994
supermim : 3/16/1992
supermim : 3/20/1990
carol : 12/15/1989
ddp : 10/27/1989
root : 8/29/1989

* 185640

RIBOSOMAL PROTEIN L7a; RPL7A


Alternative titles; symbols

SURFEIT 3; SURF3


HGNC Approved Gene Symbol: RPL7A

Cytogenetic location: 9q34.2     Genomic coordinates (GRCh38): 9:133,348,218-133,351,426 (from NCBI)


TEXT

The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466).


Cloning and Expression

Giallongo et al. (1989) demonstrated that the SURF3 gene encodes the L7a ribosomal protein. The first 2 exons of the human SURF3 gene have been found to be capable of activating the TRK oncogene (see 191315). The SURF3 gene appears to be the only intron-containing member of the surfeit family cluster on chromosome 9q34 (see SURF1, 185620).


Gene Structure

Angiolillo et al. (2002) determined that transcription start sites of the MED22 (185641) and RPL7A genes are separated by a 110-bp region that shows bidirectional promoter activity. This promoter region lacks a TATA box but is characterized by a CpG island that extends through the first exon into the first intron of both genes.


Mapping

Yon et al. (1993) mapped the RPLA7 gene to chromosome 9q34.1. Kenmochi et al. (1998) confirmed the mapping assignment.


Molecular Genetics

Mor et al. (1996) described a common polymorphism in the surfeit gene cluster that was of interest because it occurs in the TSC1 (191100) region of chromosome 9q34. By database analysis, Smith (1997) found that the polymorphism reported by Mor et al. (1996) is due to mutation in the SURF3 gene.


REFERENCES

  1. Angiolillo, A., Russo, G., Procellini, A., Smaldone, S., D'Alessandro, F., Pietropaolo, C. The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts. Gene 284: 169-178, 2002. [PubMed: 11891058] [Full Text: https://doi.org/10.1016/s0378-1119(02)00379-7]

  2. Giallongo, A., Yon, J., Fried, M. The ribosomal protein L7a is encoded by a gene (Surf-3) within the tightly clustered mouse surfeit locus. Molec. Cell. Biol. 9: 224-231, 1989. [PubMed: 2648130] [Full Text: https://doi.org/10.1128/mcb.9.1.224-231.1989]

  3. Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. A map of 75 human ribosomal protein genes. Genome Res. 8: 509-523, 1998. [PubMed: 9582194] [Full Text: https://doi.org/10.1101/gr.8.5.509]

  4. Mor, O., Duhig, T., Fried, M. A high frequency polymorphism in the candidate region for tuberous sclerosis 1 (TSC1) at 9q34. Ann. Hum. Genet. 60: 259-260, 1996. [PubMed: 8800442] [Full Text: https://doi.org/10.1111/j.1469-1809.1996.tb00429.x]

  5. Smith, M. Personal Communication. Baltimore, Md. 1/2/1997.

  6. Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M. The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1. Hum. Molec. Genet. 2: 237-240, 1993. [PubMed: 8499913] [Full Text: https://doi.org/10.1093/hmg/2.3.237]


Contributors:
Patricia A. Hartz - updated : 10/30/2008
Patti M. Sherman - updated : 9/21/2000
Moyra Smith - updated : 1/2/1997

Creation Date:
Victor A. McKusick : 8/29/1989

Edit History:
wwang : 10/30/2008
terry : 10/30/2008
carol : 8/20/2008
carol : 2/24/2004
psherman : 9/21/2000
psherman : 9/10/1999
psherman : 2/2/1999
terry : 8/12/1998
mark : 1/2/1997
carol : 9/13/1994
supermim : 3/16/1992
supermim : 3/20/1990
carol : 12/15/1989
ddp : 10/27/1989
root : 8/29/1989