Entry - *602350 - NEUROGRANIN; NRGN - OMIM
 
* 602350

NEUROGRANIN; NRGN


Alternative titles; symbols

PROTEIN KINASE C SUBSTRATE RC3


HGNC Approved Gene Symbol: NRGN

Cytogenetic location: 11q24.2     Genomic coordinates (GRCh38): 11:124,739,942-124,747,210 (from NCBI)


TEXT

Cloning and Expression

Martinez de Arrieta et al. (1997) cloned human neurogranin by screening a placental genomic library with the homologous rat cDNA. The 78-amino acid human protein is 96% identical to rat neurogranin. On Northern blots of human tissues, Martinez de Arrieta et al. (1997) detected neurogranin expression only in brain.


Gene Function

Neurogranin is a brain-specific protein expressed in telencephalic neurons. Neurogranin was first identified by Baudier et al. (1991) from bovine forebrain. Baudier et al. (1991) showed that, like GAP43 (162060), rat neurogranin, also called p17 or RC3, is phosphorylated by protein kinase C (see 176960) and binds calmodulin in the absence of calcium.

In the rat brain, neurogranin is under thyroid hormone control in specific neuronal subsets in both developing and adult animals. To evaluate whether the human gene is also a target of thyroid hormone, Martinez de Arrieta et al. (1999) searched for T3-responsive elements in NRGN cloned genomic fragments spanning the whole gene. A T3 receptor-binding site was found in the first intron, 3,000 bp downstream from the origin of transcription. Further data reported by Martinez de Arrieta et al. (1999) suggested that NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects.


Mapping

Martinez de Arrieta et al. (1997) localized the neurogranin gene to chromosome 11q24 based on its inclusion within a YAC from that region.


REFERENCES

  1. Baudier, J., Deloulme, J. C., Van Dorsselaer, A., Black, D., Matthes, H. W. D. Purification and characterization of a brain-specific protein kinase C substrate, neurogranin (p17): identification of a consensus amino acid sequence between neurogranin and neuromodulin (GAP43) that corresponds to the protein kinase C phosphorylation site and the calmodulin-binding domain. J. Biol. Chem. 266: 229-237, 1991. [PubMed: 1824695, related citations]

  2. Martinez de Arrieta, C., Morte, B., Coloma, A., Bernal, J. The human RC3 gene homolog, NRGN contains a thyroid hormone-responsive element located in the first intron. Endocrinology 140: 335-343, 1999. [PubMed: 9886843, related citations] [Full Text]

  3. Martinez de Arrieta, C., Perez Jurado, L., Bernal, J., Coloma, A. Structure, organization, and chromosomal mapping of the human neurogranin gene (NRGN). Genomics 41: 243-249, 1997. [PubMed: 9143500, related citations] [Full Text]


Contributors:
Victor A. McKusick - updated : 3/11/1999
Creation Date:
Rebekah S. Rasooly : 2/13/1998
alopez : 05/03/2010
carol : 3/29/1999
terry : 3/11/1999
alopez : 2/13/1998

* 602350

NEUROGRANIN; NRGN


Alternative titles; symbols

PROTEIN KINASE C SUBSTRATE RC3


HGNC Approved Gene Symbol: NRGN

Cytogenetic location: 11q24.2     Genomic coordinates (GRCh38): 11:124,739,942-124,747,210 (from NCBI)


TEXT

Cloning and Expression

Martinez de Arrieta et al. (1997) cloned human neurogranin by screening a placental genomic library with the homologous rat cDNA. The 78-amino acid human protein is 96% identical to rat neurogranin. On Northern blots of human tissues, Martinez de Arrieta et al. (1997) detected neurogranin expression only in brain.


Gene Function

Neurogranin is a brain-specific protein expressed in telencephalic neurons. Neurogranin was first identified by Baudier et al. (1991) from bovine forebrain. Baudier et al. (1991) showed that, like GAP43 (162060), rat neurogranin, also called p17 or RC3, is phosphorylated by protein kinase C (see 176960) and binds calmodulin in the absence of calcium.

In the rat brain, neurogranin is under thyroid hormone control in specific neuronal subsets in both developing and adult animals. To evaluate whether the human gene is also a target of thyroid hormone, Martinez de Arrieta et al. (1999) searched for T3-responsive elements in NRGN cloned genomic fragments spanning the whole gene. A T3 receptor-binding site was found in the first intron, 3,000 bp downstream from the origin of transcription. Further data reported by Martinez de Arrieta et al. (1999) suggested that NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects.


Mapping

Martinez de Arrieta et al. (1997) localized the neurogranin gene to chromosome 11q24 based on its inclusion within a YAC from that region.


REFERENCES

  1. Baudier, J., Deloulme, J. C., Van Dorsselaer, A., Black, D., Matthes, H. W. D. Purification and characterization of a brain-specific protein kinase C substrate, neurogranin (p17): identification of a consensus amino acid sequence between neurogranin and neuromodulin (GAP43) that corresponds to the protein kinase C phosphorylation site and the calmodulin-binding domain. J. Biol. Chem. 266: 229-237, 1991. [PubMed: 1824695]

  2. Martinez de Arrieta, C., Morte, B., Coloma, A., Bernal, J. The human RC3 gene homolog, NRGN contains a thyroid hormone-responsive element located in the first intron. Endocrinology 140: 335-343, 1999. [PubMed: 9886843] [Full Text: https://doi.org/10.1210/endo.140.1.6461]

  3. Martinez de Arrieta, C., Perez Jurado, L., Bernal, J., Coloma, A. Structure, organization, and chromosomal mapping of the human neurogranin gene (NRGN). Genomics 41: 243-249, 1997. [PubMed: 9143500] [Full Text: https://doi.org/10.1006/geno.1997.4622]


Contributors:
Victor A. McKusick - updated : 3/11/1999

Creation Date:
Rebekah S. Rasooly : 2/13/1998

Edit History:
alopez : 05/03/2010
carol : 3/29/1999
terry : 3/11/1999
alopez : 2/13/1998