Entry - *612701 - RIMS-BINDING PROTEIN 3C; RIMBP3C - OMIM

 
 
* 612701

RIMS-BINDING PROTEIN 3C; RIMBP3C


Alternative titles; symbols

RIMBP3.3


HGNC Approved Gene Symbol: RIMBP3C

Cytogenetic location: 22q11.21     Genomic coordinates (GRCh38): 22:21,545,666-21,551,461 (from NCBI)


TEXT

▼ Cloning and Expression

Mittelstaedt and Schoch (2007) cloned mouse Rimbp3, and by database analysis, they identified 3 human RIMBP3 genes, RIMBP3 (612699), RIMBP3B (612700), and RIMBP3C, 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. The protein 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 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

Mittelstaedt and Schoch (2007) found that each of the 3 RIMBP3 genes contains a single exon. RIMBP3C spans about 5.5 kb.


▼ Mapping

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

For information on the evolution of the RIMBP gene family, see RIMBP1 (BZRAP1; 610764).

▼ REFERENCES

  1. 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

* 612701

RIMS-BINDING PROTEIN 3C; RIMBP3C


Alternative titles; symbols

RIMBP3.3


HGNC Approved Gene Symbol: RIMBP3C

Cytogenetic location: 22q11.21     Genomic coordinates (GRCh38): 22:21,545,666-21,551,461 (from NCBI)


TEXT

Cloning and Expression

Mittelstaedt and Schoch (2007) cloned mouse Rimbp3, and by database analysis, they identified 3 human RIMBP3 genes, RIMBP3 (612699), RIMBP3B (612700), and RIMBP3C, 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. The protein 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 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

Mittelstaedt and Schoch (2007) found that each of the 3 RIMBP3 genes contains a single exon. RIMBP3C spans about 5.5 kb.


Mapping

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

For information on the evolution of the RIMBP gene family, see RIMBP1 (BZRAP1; 610764).

REFERENCES

  1. 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



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 23, 2024