Entry - *612699 - RIMS-BINDING PROTEIN 3; RIMBP3 - OMIM
 
* 612699

RIMS-BINDING PROTEIN 3; RIMBP3


Alternative titles; symbols

RIMBP3A
RIMBP3.1
KIAA1666


HGNC Approved Gene Symbol: RIMBP3

Cytogenetic location: 22q11.21     Genomic coordinates (GRCh38): 22:18,605,815-18,611,919 (from NCBI)


TEXT

Cloning and Expression

By sequencing clones obtained from size-fractionated human brain libraries, Hirosawa et al. (2001) cloned RIMBP3, which they designated KIAA1666. The predicted full-length protein contains 1,560 amino acids.

Mittelstaedt and Schoch (2007) cloned mouse Rimbp3, and by database analysis, they identified 3 human RIMBP3 genes, RIMBP3, RIMBP3B (612700), and RIMBP3C (612701), which share 99% nucleotide identity. Each of the deduced human RIMBP3 proteins contains 1,639 amino acids and has a calculated molecular mass of 180 kD. RIMBP3 has a central SRC (190090) homology-3 (SH3) domain, followed by 2 tandem fibronectin (135600)-like 3 (FN3) domains, and 2 C-terminal SH3 domains. Mittelstaedt and Schoch (2007) noted that all other members of the RIMBP family have 3 tandem FN3 domains. The N-terminal region of RIMBP3 is rich in arginine, glutamic acid, aspartic acid, serine, and proline. Quantitative real-time PCR of mouse tissues detected ubiquitous Rimbp3 expression, with the highest level in testis. Rimbp3 showed low uniform expression in all mouse brain regions examined and in embryonic mouse brain.


Gene Structure

Hirosawa et al. (2001) determined that the coding region of the RIMBP3 gene spans about 5.5 kb.

Mittelstaedt and Schoch (2007) found that each of the 3 RIMBP3 genes contains a single exon. RIMBP3 spans about 6.1 kb.


Mapping

By genomic sequence analysis, Hirosawa et al. (2001) mapped the RIMBP3 gene to chromosome 22q.

Mittelstaedt and Schoch (2007) mapped the 3 RIMBP3 genes to a 1.4-Mb region of chromosome 22q11.21. They mapped the single mouse Rimbp3 gene to chromosome 16A3.


Evolution

By database analysis, Mittelstaedt and Schoch (2007) found that the RIMBP3 gene is present only in therian mammals. For further information on the evolution of the RIMBP gene family, see RIMBP1 (BZRAP1; 610764).


REFERENCES

  1. Hirosawa, M., Nagase, T., Murahashi, Y., Kikuno, R., Ohara, O. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. DNA Res. 8: 1-9, 2001. [PubMed: 11258795, related citations] [Full Text]

  2. Mittelstaedt, T., Schoch, S. Structure and evolution of RIM-BP genes: identification of a novel family member. Gene 403: 70-79, 2007. [PubMed: 17855024, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 3/27/2009
Edit History:
mgross : 03/27/2009

* 612699

RIMS-BINDING PROTEIN 3; RIMBP3


Alternative titles; symbols

RIMBP3A
RIMBP3.1
KIAA1666


HGNC Approved Gene Symbol: RIMBP3

Cytogenetic location: 22q11.21     Genomic coordinates (GRCh38): 22:18,605,815-18,611,919 (from NCBI)


TEXT

Cloning and Expression

By sequencing clones obtained from size-fractionated human brain libraries, Hirosawa et al. (2001) cloned RIMBP3, which they designated KIAA1666. The predicted full-length protein contains 1,560 amino acids.

Mittelstaedt and Schoch (2007) cloned mouse Rimbp3, and by database analysis, they identified 3 human RIMBP3 genes, RIMBP3, RIMBP3B (612700), and RIMBP3C (612701), which share 99% nucleotide identity. Each of the deduced human RIMBP3 proteins contains 1,639 amino acids and has a calculated molecular mass of 180 kD. RIMBP3 has a central SRC (190090) homology-3 (SH3) domain, followed by 2 tandem fibronectin (135600)-like 3 (FN3) domains, and 2 C-terminal SH3 domains. Mittelstaedt and Schoch (2007) noted that all other members of the RIMBP family have 3 tandem FN3 domains. The N-terminal region of RIMBP3 is rich in arginine, glutamic acid, aspartic acid, serine, and proline. Quantitative real-time PCR of mouse tissues detected ubiquitous Rimbp3 expression, with the highest level in testis. Rimbp3 showed low uniform expression in all mouse brain regions examined and in embryonic mouse brain.


Gene Structure

Hirosawa et al. (2001) determined that the coding region of the RIMBP3 gene spans about 5.5 kb.

Mittelstaedt and Schoch (2007) found that each of the 3 RIMBP3 genes contains a single exon. RIMBP3 spans about 6.1 kb.


Mapping

By genomic sequence analysis, Hirosawa et al. (2001) mapped the RIMBP3 gene to chromosome 22q.

Mittelstaedt and Schoch (2007) mapped the 3 RIMBP3 genes to a 1.4-Mb region of chromosome 22q11.21. They mapped the single mouse Rimbp3 gene to chromosome 16A3.


Evolution

By database analysis, Mittelstaedt and Schoch (2007) found that the RIMBP3 gene is present only in therian mammals. For further information on the evolution of the RIMBP gene family, see RIMBP1 (BZRAP1; 610764).


REFERENCES

  1. Hirosawa, M., Nagase, T., Murahashi, Y., Kikuno, R., Ohara, O. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. DNA Res. 8: 1-9, 2001. [PubMed: 11258795] [Full Text: https://doi.org/10.1093/dnares/8.1.1]

  2. Mittelstaedt, T., Schoch, S. Structure and evolution of RIM-BP genes: identification of a novel family member. Gene 403: 70-79, 2007. [PubMed: 17855024] [Full Text: https://doi.org/10.1016/j.gene.2007.08.004]


Creation Date:
Patricia A. Hartz : 3/27/2009

Edit History:
mgross : 03/27/2009