ACTL7A

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

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 More reference expression data
Gene ontology Molecular function • structural constituent of cytoskeleton • GO:0001948 protein binding Cellular component • cytoplasm • male germ cell nucleus • Golgi apparatus • motile cilium • cytoskeleton • cell nucleus • macromolecular 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

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.
• 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.
• 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.