Entry - *614410 - ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1 - OMIM

 
 
* 614410

ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1


HGNC Approved Gene Symbol: AFAP1L1

Cytogenetic location: 5q32     Genomic coordinates (GRCh38): 5:149,271,859-149,343,637 (from NCBI)


TEXT

▼ Cloning and Expression

By searching a database for sequences encoding pleckstrin (PLEK; 173570) homology (PH) domains similar to those in AFAP1 (608252), Snyder et al. (2011) identified AFAP1L1. The deduced 768-amino acid protein has a calculated molecular mass of 85 kD. AFAP1L1 contains an SRC (190090) homology-3 (SH3)-binding motif and an SH2-binding motif near its N terminus, followed by a PH domain, a ser/thr-rich region, a second PH domain, a second SH2-binding motif, a leucine zipper, and a putative actin-binding domain. AFAP1L1 shares 44% amino acid identity with AFAP1. Immunohistochemical analysis of human breast tissue showed association of AFAP1L1 with ductal cells, microvasculature, and contractile myoepithelial cells. In colon, AFAP1L1 was found in mucous membrane, colonic crypts, microvasculature, and the muscularis layer. In brain, AFAP1L1 localized to glial cells, the granule cell layer, the Purkinje cell layer, dentate nucleus, and microvasculature. AFAP1L1 did not localize to neuronal cell bodies, but possibly to axon terminals or dendritic spines. Immunohistochemical analysis of human breast cancer cells revealed AFAP1L1 localization to actin stress filaments and more diffuse localization in cytoplasm. Western blot analysis detected AFAP1L1 at an apparent molecular mass of 115 kD in human breast cancer cell lines.


▼ Gene Function

Snyder et al. (2011) found that the SH3-binding motif of AFAP1L1 interacted with the SH3 domain of cortactin (CTTN; 164765). Overexpression of human AFAP1L1 in rat A7r5 cells induced podosome formation.


▼ Gene Structure

Snyder et al. (2011) determined that the AFAP1L1 gene contains 19 exons.


▼ Mapping

Snyder et al. (2011) stated that the AFAP1L1 gene maps to chromosome 5q33.1.


▼ REFERENCES

  1. Snyder, B. N., Cho, Y., Qian, Y., Coad, J. E., Flynn, D. C., Cunnick, J. M. AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes. Europ. J. Cell Biol. 90: 376-389, 2011. [PubMed: 21333378, images, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 1/4/2012
Edit History:
mgross : 01/04/2012

* 614410

ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1


HGNC Approved Gene Symbol: AFAP1L1

Cytogenetic location: 5q32     Genomic coordinates (GRCh38): 5:149,271,859-149,343,637 (from NCBI)


TEXT

Cloning and Expression

By searching a database for sequences encoding pleckstrin (PLEK; 173570) homology (PH) domains similar to those in AFAP1 (608252), Snyder et al. (2011) identified AFAP1L1. The deduced 768-amino acid protein has a calculated molecular mass of 85 kD. AFAP1L1 contains an SRC (190090) homology-3 (SH3)-binding motif and an SH2-binding motif near its N terminus, followed by a PH domain, a ser/thr-rich region, a second PH domain, a second SH2-binding motif, a leucine zipper, and a putative actin-binding domain. AFAP1L1 shares 44% amino acid identity with AFAP1. Immunohistochemical analysis of human breast tissue showed association of AFAP1L1 with ductal cells, microvasculature, and contractile myoepithelial cells. In colon, AFAP1L1 was found in mucous membrane, colonic crypts, microvasculature, and the muscularis layer. In brain, AFAP1L1 localized to glial cells, the granule cell layer, the Purkinje cell layer, dentate nucleus, and microvasculature. AFAP1L1 did not localize to neuronal cell bodies, but possibly to axon terminals or dendritic spines. Immunohistochemical analysis of human breast cancer cells revealed AFAP1L1 localization to actin stress filaments and more diffuse localization in cytoplasm. Western blot analysis detected AFAP1L1 at an apparent molecular mass of 115 kD in human breast cancer cell lines.


Gene Function

Snyder et al. (2011) found that the SH3-binding motif of AFAP1L1 interacted with the SH3 domain of cortactin (CTTN; 164765). Overexpression of human AFAP1L1 in rat A7r5 cells induced podosome formation.


Gene Structure

Snyder et al. (2011) determined that the AFAP1L1 gene contains 19 exons.


Mapping

Snyder et al. (2011) stated that the AFAP1L1 gene maps to chromosome 5q33.1.


REFERENCES

  1. Snyder, B. N., Cho, Y., Qian, Y., Coad, J. E., Flynn, D. C., Cunnick, J. M. AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes. Europ. J. Cell Biol. 90: 376-389, 2011. [PubMed: 21333378] [Full Text: https://doi.org/10.1016/j.ejcb.2010.11.016]


Creation Date:
Patricia A. Hartz : 1/4/2012

Edit History:
mgross : 01/04/2012



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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 20, 2024