Homo sapiens Gene: ACTL7A
Summary
InnateDB Gene IDBG-79879.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTL7A
Gene Name actin-like 7A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187003
Encoded Proteins
actin-like 7A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:108862266-108863759
Strand Forward strand
Band q31.3
Transcripts
ENST00000333999 ENSP00000334300
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0001673 male germ cell nucleus
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0031514 motile cilium
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9Y615
TrEMBL
UniProt Splice Variant
Entrez Gene 10881
UniGene Hs.123530
RefSeq NM_006687
HUGO HGNC:161
OMIM 604303
CCDS CCDS6772
HPRD
IMGT
EMBL AB284520 AF113526 AK314981 AL359692 BC014610 CH471105
GenPept AAD44109 AAH14610 BAF41971 BAG37480 CAI40571 EAW59026
RNA Seq Atlas 10881