Entry - *616961 - GTPase, IMAP FAMILY, MEMBER 7; GIMAP7 - OMIM

 
 
* 616961

GTPase, IMAP FAMILY, MEMBER 7; GIMAP7


Alternative titles; symbols

GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 7


HGNC Approved Gene Symbol: GIMAP7

Cytogenetic location: 7q36.1     Genomic coordinates (GRCh38): 7:150,514,872-150,521,073 (from NCBI)


TEXT

▼ Description

Members of the GTPase of immunity-associated protein (GIMAP) family, such as GIMAP7, are regulators of lymphocyte survival and homeostasis (Schwefel et al., 2013).


▼ Cloning and Expression

By database analysis and RT-PCR of Jurkat cell RNA, Krucken et al. (2004) cloned GIMAP7. The deduced 300-amino acid protein has a calculated molecular mass of 34.5 kD. It contains 5 motifs characteristic of GTPases and a conserved box found in Arabidopsis Aig1 and all GIMAPs, as well as a coiled-coil motif in its C-terminal half and an endoplasmic reticulum (ER) localization signal at its C terminus. Northern and dot blot analyses revealed high expression of a 3.5-kb GIMAP7 transcript in human spleen, lymph node, and fetal kidney. Expression was moderate in heart and small intestine, low in lung, kidney, liver, thyroid, salivary gland, mammary gland, and thymus, and absent in tumor cell lines. Confocal microscopy demonstrated GIMAP7 expression in ER and Golgi of transfected CHO-K1 cells.

Using confocal microscopy, Schwefel et al. (2013) demonstrated expression of human GIMAP2 (608085) and GIMAP7 at the surface of intracellular lipid droplets.


▼ Gene Function

Schwefel et al. (2013) found that GIMAP7 homodimerized and exhibited dimerization-stimulated GTP hydrolysis. Moreover, GIMAP7 heterodimerized transiently with GIMAP2 and served as a GTPase-activating protein for GIMAP2.


▼ Biochemical Features

Schwefel et al. (2013) obtained the crystal structure of GTP-bound GIMAP7 at a resolution of 3.1 angstroms. The structure showed a homodimer that assembled via the G domains, with the helical extensions protruding in opposite directions. A catalytic arginine was supplied to the opposing monomer to stimulate GTP hydrolysis.


▼ Mapping

By genomic sequence analysis, Krucken et al. (2004) mapped the GIMAP7 gene to chromosome 7q36.1, where it lies between GIMAP8 (616962) and GIMAP4 (608087). The GIMAP gene cluster is located on chromosome 6B in mouse.


▼ REFERENCES

  1. Krucken, J., Schroetel, R. M. U., Muller, I. U., Saidani, N., Marinovski, P., Benten, W. P. M., Stamm, O., Wunderlich, F. Comparative analysis of the human gimap gene cluster encoding a novel GTPase family. Gene 341: 291-304, 2004. [PubMed: 15474311, related citations] [Full Text]

  2. Schwefel, D., Arasu, B. S., Marino, S. F., Lamprecht, B., Kochert, K., Rosenbaum, E., Eichhorst, J., Wiesner, B., Behlke, J., Rocks, O., Mathas, S., Daumke, O. Structural insights into the mechanism of GTPase activation in the GIMAP family. Structure 21: 550-559, 2013. [PubMed: 23454188, related citations] [Full Text]


Creation Date:
Paul J. Converse : 5/26/2016
Edit History:
mgross : 05/27/2016
mgross : 5/26/2016

* 616961

GTPase, IMAP FAMILY, MEMBER 7; GIMAP7


Alternative titles; symbols

GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 7


HGNC Approved Gene Symbol: GIMAP7

Cytogenetic location: 7q36.1     Genomic coordinates (GRCh38): 7:150,514,872-150,521,073 (from NCBI)


TEXT

Description

Members of the GTPase of immunity-associated protein (GIMAP) family, such as GIMAP7, are regulators of lymphocyte survival and homeostasis (Schwefel et al., 2013).


Cloning and Expression

By database analysis and RT-PCR of Jurkat cell RNA, Krucken et al. (2004) cloned GIMAP7. The deduced 300-amino acid protein has a calculated molecular mass of 34.5 kD. It contains 5 motifs characteristic of GTPases and a conserved box found in Arabidopsis Aig1 and all GIMAPs, as well as a coiled-coil motif in its C-terminal half and an endoplasmic reticulum (ER) localization signal at its C terminus. Northern and dot blot analyses revealed high expression of a 3.5-kb GIMAP7 transcript in human spleen, lymph node, and fetal kidney. Expression was moderate in heart and small intestine, low in lung, kidney, liver, thyroid, salivary gland, mammary gland, and thymus, and absent in tumor cell lines. Confocal microscopy demonstrated GIMAP7 expression in ER and Golgi of transfected CHO-K1 cells.

Using confocal microscopy, Schwefel et al. (2013) demonstrated expression of human GIMAP2 (608085) and GIMAP7 at the surface of intracellular lipid droplets.


Gene Function

Schwefel et al. (2013) found that GIMAP7 homodimerized and exhibited dimerization-stimulated GTP hydrolysis. Moreover, GIMAP7 heterodimerized transiently with GIMAP2 and served as a GTPase-activating protein for GIMAP2.


Biochemical Features

Schwefel et al. (2013) obtained the crystal structure of GTP-bound GIMAP7 at a resolution of 3.1 angstroms. The structure showed a homodimer that assembled via the G domains, with the helical extensions protruding in opposite directions. A catalytic arginine was supplied to the opposing monomer to stimulate GTP hydrolysis.


Mapping

By genomic sequence analysis, Krucken et al. (2004) mapped the GIMAP7 gene to chromosome 7q36.1, where it lies between GIMAP8 (616962) and GIMAP4 (608087). The GIMAP gene cluster is located on chromosome 6B in mouse.


REFERENCES

  1. Krucken, J., Schroetel, R. M. U., Muller, I. U., Saidani, N., Marinovski, P., Benten, W. P. M., Stamm, O., Wunderlich, F. Comparative analysis of the human gimap gene cluster encoding a novel GTPase family. Gene 341: 291-304, 2004. [PubMed: 15474311] [Full Text: https://doi.org/10.1016/j.gene.2004.07.005]

  2. Schwefel, D., Arasu, B. S., Marino, S. F., Lamprecht, B., Kochert, K., Rosenbaum, E., Eichhorst, J., Wiesner, B., Behlke, J., Rocks, O., Mathas, S., Daumke, O. Structural insights into the mechanism of GTPase activation in the GIMAP family. Structure 21: 550-559, 2013. [PubMed: 23454188] [Full Text: https://doi.org/10.1016/j.str.2013.01.014]


Creation Date:
Paul J. Converse : 5/26/2016

Edit History:
mgross : 05/27/2016
mgross : 5/26/2016



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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: April 25, 2024