Anoctamin-10 (ANO10)
The protein contains 660 amino acids for an estimated molecular weight of 76329 Da.
Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. (updated: May 29, 2007)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs3772165 | |
| SCAR10 | |
| dbSNP:rs17409162 | |
| dbSNP:rs17853862 |
No binding partner found
Biological Process
Cation transport
Chloride transport
Ion transmembrane transport
Transmembrane transport
The reference OMIM entry for this protein is 613726
Anoctamin 10; ano10
Transmembrane protein 16k; tmem16k
DESCRIPTION
ANO10 belongs to a family of calcium-activated chloride channels (review by Hartzell et al., 2009).CLONING
Vermeer et al. (2010) stated that the deduced ANO10 protein contains 660 amino acids. Quantitative PCR detected ANO10 expression in all tissues examined, with highest expression in whole adult brain, followed by retina and heart. Within specific adult brain regions, highest expression was detected in frontal and occipital cortices and in cerebellum. Expression in fetal brain was lower than in adult whole brain.GENE STRUCTURE
Vermeer et al. (2010) determined that the ANO10 gene spans 2.7 kb and contains 13 exons, 12 of which are coding.MAPPING
Vermeer et al. (2010) stated that the ANO10 gene maps to chromosome 3p22.3-p21.32. Gross (2011) mapped the ANO10 gene to chromosome 3p22.1 based on an alignment of the ANO10 sequence (GenBank GENBANK AK096302) with the genomic sequence (GRCh37).MOLECULAR GENETICS
In affected members of 3 unrelated families with autosomal recessive spinocerebellar ataxia-10 (SCAR10; 613728), Vermeer et al. (2010) identified homozygous or compound heterozygous mutations in the ANO10 gene (613726.0001-613726.0004). The neurodegenerative disorder was characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. In 2 unrelated women with SCAR10 and decreased coenzyme Q10 (CoQ10) levels in muscle, Balreira et al. (2014) identified compound heterozygous mutations in the ANO10 gene (613726.0005-613726.0007). The mutations in the first patient were found by whole-exome sequencing; the mutations in the second patient were found by direct sequencing of the ANO10 gene in 36 individuals with low CoQ10 levels in muscle, fibroblasts, or cerebrospinal fluid. Functional studies of the variants were not performed. ... More on the omim web site
June 29, 2020: Protein entry updated
Automatic update: OMIM entry 613726 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).