Entry - *615051 - ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6 - OMIM

 
 
* 615051

ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6


HGNC Approved Gene Symbol: ASB6

Cytogenetic location: 9q34.11     Genomic coordinates (GRCh38): 9:129,634,605-129,642,151 (from NCBI)


TEXT

▼ Description

Proteins of the ASB family, such as ASB6, contain central tandem ankyrin (see 612641) repeats and a C-terminal suppressor of cytokine signaling (SOCS) box. SOCS box proteins are predicted to be involved in protein degradation by acting as a bridge between substrate proteins and E3 ubiquitin protein ligases (see 601623) (review by Kile et al., 2002).


▼ Cloning and Expression

Kile et al. (2001) showed that the deduced 418-amino acid mouse Asb6 protein has 8 tandem ankyrin repeats and a C-terminal SOCS box.


▼ Gene Function

Kohroki et al. (2005) found that epitope-tagged ASB6 and several other ASB family members interacted with endogenous CUL5 (601741) and RBX2 (RNF7; 603863) in immunoprecipitated HEK293 cells. The ASB proteins did not interact with CUL2 (603135) or RBX1 (603814).


▼ Mapping

Hartz (2013) mapped the ASB6 gene to chromosome 9q34.11 based on an alignment of the ASB6 sequence (GenBank AK000555) with the genomic sequence (GRCh37).

▼ REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 1/29/2013.

  2. Kile, B. T., Metcalf, D., Mifsud, S., DiRago, L., Nicola, N. A., Hilton, D. J., Alexander, W. S. Functional analysis of Asb-1 using genetic modification in mice. Molec. Cell. Biol. 21: 6189-6197, 2001. [PubMed: 11509662, images, related citations] [Full Text]

  3. Kile, B. T., Schulman, B. A., Alexander, W. S., Nicola, N. A., Martin, H. M. E., Hilton, D. J. The SOCS box: a tale of destruction and degradation. Trends Biochem. Sci. 27: 235-241, 2002. [PubMed: 12076535, related citations] [Full Text]

  4. Kohroki, J., Nishiyama, T., Nakamura, T., Masuho, Y. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. FEBS Lett. 579: 6796-6802, 2005. [PubMed: 16325183, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 1/30/2013
Edit History:
mgross : 01/30/2013

* 615051

ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6


HGNC Approved Gene Symbol: ASB6

Cytogenetic location: 9q34.11     Genomic coordinates (GRCh38): 9:129,634,605-129,642,151 (from NCBI)


TEXT

Description

Proteins of the ASB family, such as ASB6, contain central tandem ankyrin (see 612641) repeats and a C-terminal suppressor of cytokine signaling (SOCS) box. SOCS box proteins are predicted to be involved in protein degradation by acting as a bridge between substrate proteins and E3 ubiquitin protein ligases (see 601623) (review by Kile et al., 2002).


Cloning and Expression

Kile et al. (2001) showed that the deduced 418-amino acid mouse Asb6 protein has 8 tandem ankyrin repeats and a C-terminal SOCS box.


Gene Function

Kohroki et al. (2005) found that epitope-tagged ASB6 and several other ASB family members interacted with endogenous CUL5 (601741) and RBX2 (RNF7; 603863) in immunoprecipitated HEK293 cells. The ASB proteins did not interact with CUL2 (603135) or RBX1 (603814).


Mapping

Hartz (2013) mapped the ASB6 gene to chromosome 9q34.11 based on an alignment of the ASB6 sequence (GenBank AK000555) with the genomic sequence (GRCh37).

REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 1/29/2013.

  2. Kile, B. T., Metcalf, D., Mifsud, S., DiRago, L., Nicola, N. A., Hilton, D. J., Alexander, W. S. Functional analysis of Asb-1 using genetic modification in mice. Molec. Cell. Biol. 21: 6189-6197, 2001. [PubMed: 11509662] [Full Text: https://doi.org/10.1128/MCB.21.18.6189-6197.2001]

  3. Kile, B. T., Schulman, B. A., Alexander, W. S., Nicola, N. A., Martin, H. M. E., Hilton, D. J. The SOCS box: a tale of destruction and degradation. Trends Biochem. Sci. 27: 235-241, 2002. [PubMed: 12076535] [Full Text: https://doi.org/10.1016/s0968-0004(02)02085-6]

  4. Kohroki, J., Nishiyama, T., Nakamura, T., Masuho, Y. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. FEBS Lett. 579: 6796-6802, 2005. [PubMed: 16325183] [Full Text: https://doi.org/10.1016/j.febslet.2005.11.016]


Creation Date:
Patricia A. Hartz : 1/30/2013

Edit History:
mgross : 01/30/2013



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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 25, 2024