Contents

ACTL7A

Protein-coding gene in the species Homo sapiens

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; OMA:ACTL7A - orthologs
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 left testis right testis sperm testicle metanephros tail of epididymis embryo right coronary artery human musculoskeletal system muscular system Top expressed in spermatid seminiferous tubule spermatocyte embryo 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[edit]

External links[edit]

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

Further reading[edit]

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.