ACTL7A

ACTL7A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2XQN
Identifiers
Aliases	ACTL7A , actin like 7A
External IDs	OMIM: 604303 MGI: 1343051 HomoloGene: 7613 GeneCards: ACTL7A
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q31.3 Start 108,862,266 bp [1] End 108,863,756 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 B3|4 31.66 cM Start 56,743,413 bp [2] End 56,744,925 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm metanephros embryo right coronary artery human musculoskeletal system muscular system muscle muscle mammary gland breast Top expressed in spermatid seminiferous tubule spermatocyte upper arm triceps brachii muscle islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of cytoskeleton protein binding Cellular component cytoplasm male germ cell nucleus Golgi apparatus motile cilium cytoskeleton nucleus protein-containing complex Biological process cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10881 11470 Ensembl ENSG00000187003 ENSMUSG00000070979 UniProt Q9Y615 Q9QY84 RefSeq (mRNA) NM_006687 NM_009611 RefSeq (protein) NP_006678 NP_033741 Location (UCSC) Chr 9: 108.86 – 108.86 Mb Chr 4: 56.74 – 56.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Actin-like protein 7A is a protein that in humans is encoded by the ACTL7A gene. ^{[5] [6]}

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000187003 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000070979 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA (Jul 1999). "Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31". Genomics. 58 (3): 302–9. doi:10.1006/geno.1999.5848. PMID   10373328.
6. "Entrez Gene: ACTL7A actin-like 7A".

External links

• Human ACTL7A genome location and ACTL7A gene details page in the UCSC Genome Browser .

Further reading

• Schafer DA, Schroer TA (2000). "Actin-related proteins". Annu. Rev. Cell Dev. Biol. 15: 341–63. doi:10.1146/annurev.cellbio.15.1.341. PMID   10611965.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• Garvalov BK, Higgins TE, Sutherland JD, et al. (2003). "The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions". J. Cell Biol. 161 (1): 33–9. doi:10.1083/jcb.200211015. PMC   2172870 . PMID   12695497.
• Coutts AS, MacKenzie E, Griffith E, Black DM (2003). "TES is a novel focal adhesion protein with a role in cell spreading". J. Cell Sci. 116 (Pt 5): 897–906. doi:10.1242/jcs.00278. PMID   12571287. S2CID   26602119.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.