Anoctamin 6

Anoctamin 6 is a protein that in humans is encoded by the ANO6 gene.

ANO6
Identifiers
Aliases	ANO6, BDPLT7, SCTS, TMEM16F, anoctamin 6
External IDs	OMIM: 608663; MGI: 2145890; HomoloGene: 27888; GeneCards: ANO6; OMA:ANO6 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q12 Start 45,215,987 bp End 45,482,280 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E3- F1 Start 95,688,724 bp End 95,872,632 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell secondary oocyte tibialis anterior muscle deltoid muscle jejunal mucosa mucosa of ileum quadriceps femoris muscle Skeletal muscle tissue of rectus abdominis vastus lateralis muscle Skeletal muscle tissue of biceps brachii Top expressed in otolith organ utricle vestibular membrane of cochlear duct fossa ascending aorta ciliary body internal carotid artery stroma of bone marrow condyle external carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function phospholipid scramblase activity protein homodimerization activity protein dimerization activity chloride channel activity voltage-gated chloride channel activity voltage-gated ion channel activity protein binding calcium activated cation channel activity intracellular calcium activated chloride channel activity Cellular component extracellular exosome integral component of membrane membrane cell surface chloride channel complex intracellular anatomical structure plasma membrane cytosol specific granule membrane tertiary granule membrane Biological process blood coagulation calcium activated phosphatidylcholine scrambling sodium ion transmembrane transport phosphatidylserine exposure on blood platelet dendritic cell chemotaxis calcium activated galactosylceramide scrambling activation of blood coagulation via clotting cascade positive regulation of endothelial cell apoptotic process lipid transport positive regulation of phagocytosis, engulfment pore complex assembly bone mineralization involved in bone maturation positive regulation of apoptotic process regulation of ion transmembrane transport ion transport cation transport ion transmembrane transport calcium activated phosphatidylserine scrambling calcium activated phospholipid scrambling plasma membrane phospholipid scrambling positive regulation of bone mineralization bleb assembly negative regulation of cell volume positive regulation of monocyte chemotaxis chloride transmembrane transport calcium ion transmembrane transport chloride transport positive regulation of ion transmembrane transport purinergic nucleotide receptor signaling pathway regulation of anion transmembrane transport neutrophil degranulation transport positive regulation of potassium ion export across plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 196527 105722 Ensembl ENSG00000177119 ENSMUSG00000064210 UniProt Q4KMQ2 Q6P9J9 RefSeq (mRNA) NM_001025356 NM_001142678 NM_001142679 NM_001142680 NM_001204803 NM_001253813 NM_175344 RefSeq (protein) NP_001020527 NP_001136150 NP_001136151 NP_001191732 NP_001240742 NP_780553 Location (UCSC) Chr 12: 45.22 – 45.48 Mb Chr 15: 95.69 – 95.87 Mb PubMed search
Wikidata
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Function

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Research

The protein may play a role in syncytia formation during COVID-19 infection.

See also

• Phospholipid scramblase

Further reading

• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Molecular Medicine. 16 (7–8): 247–253. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Suzuki J, Umeda M, Sims PJ, Nagata S (December 2010). "Calcium-dependent phospholipid scrambling by TMEM16F". Nature. 468 (7325): 834–838. Bibcode:2010Natur.468..834S. doi:10.1038/nature09583. hdl:2433/131831. PMID 21107324. S2CID 205223048.
• Castoldi E, Collins PW, Williamson PL, Bevers EM (April 2011). "Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome". Blood. 117 (16): 4399–4400. doi:10.1182/blood-2011-01-332502. PMID 21511967.
• Suzuki J, Nagata S (November 2011). "[Phospholipid scrambling by TMEM16F]". Seikagaku. The Journal of Japanese Biochemical Society (in Japanese). 83 (11): 1050–1054. PMID 22256604.
• Wei JC, Hsu YW, Hung KS, Wong RH, Huang CH, Liu YT, et al. (2013). "Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population". PLOS ONE. 8 (1): e52801. Bibcode:2013PLoSO...852801W. doi:10.1371/journal.pone.0052801. PMC 3537770. PMID 23308121.
• Shimizu T, Iehara T, Sato K, Fujii T, Sakai H, Okada Y (April 2013). "TMEM16F is a component of a Ca2+-activated Cl- channel but not a volume-sensitive outwardly rectifying Cl- channel". American Journal of Physiology. Cell Physiology. 304 (8): C748–C759. doi:10.1152/ajpcell.00228.2012. PMID 23426967.
• Kmit A, van Kruchten R, Ousingsawat J, Mattheij NJ, Senden-Gijsbers B, Heemskerk JW, et al. (April 2013). "Calcium-activated and apoptotic phospholipid scrambling induced by Ano6 can occur independently of Ano6 ion currents". Cell Death & Disease. 4 (4): e611. doi:10.1038/cddis.2013.135. PMC 3668637. PMID 23618909.
• Suzuki T, Suzuki J, Nagata S (March 2014). "Functional swapping between transmembrane proteins TMEM16A and TMEM16F". The Journal of Biological Chemistry. 289 (11): 7438–7447. doi:10.1074/jbc.M113.542324. PMC 3953258. PMID 24478309.
• Ousingsawat J, Wanitchakool P, Schreiber R, Wuelling M, Vortkamp A, Kunzelmann K (March 2015). "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1". The Journal of Biological Chemistry. 290 (10): 6270–6280. doi:10.1074/jbc.M114.602979. PMC 4358264. PMID 25589784.

External links

• Overview of all the structural information available in the PDB for UniProt: Q6P9J9 (Mouse Anoctamin-6) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.