Homo sapiens Protein: ANO6
Summary
InnateDB Protein IDBP-28320.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANO6
Protein Name anoctamin 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000320087
InnateDB Gene IDBG-28318 (ANO6)
Protein Structure
UniProt Annotation
Function Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes. {ECO:0000269PubMed:20056604, ECO:0000269PubMed:21107324, ECO:0000269PubMed:21908539, ECO:0000269PubMed:22006324, ECO:0000269PubMed:22946059}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:20056604, ECO:0000269PubMed:21107324, ECO:0000269PubMed:22075693, ECO:0000269PubMed:22946059}; Multi-pass membrane protein {ECO:0000269PubMed:20056604, ECO:0000269PubMed:21107324, ECO:0000269PubMed:22075693, ECO:0000269PubMed:22946059}. Note=Shows an intracellular localization according to PubMed:22075693.
Disease Associations Scott syndrome (SCTS) [MIM:262890]: A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents. {ECO:0000269PubMed:21107324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer. {ECO:0000269PubMed:15067359}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005227 calcium activated cation channel activity
GO:0005229 intracellular calcium activated chloride channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005247 voltage-gated chloride channel activity
Biological Process
GO:0002543 activation of blood coagulation via clotting cascade
GO:0006812 cation transport
GO:0006821 chloride transport
GO:0007596 blood coagulation
GO:0017121 phospholipid scrambling
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0044070 regulation of anion transport
GO:0045087 innate immune response (InnateDB)
GO:0055085 transmembrane transport
GO:0097045 phosphatidylserine exposure on blood platelet
GO:1902476 chloride transmembrane transport
GO:2000353 positive regulation of endothelial cell apoptotic process
Cellular Component
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0034707 chloride channel complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR007632 Anoctamin
PFAM PF04547
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q4KMQ2
PhosphoSite PhosphoSite-Q4KMQ2
TrEMBL
UniProt Splice Variant
Entrez Gene 196527
UniGene Hs.505339
RefSeq NP_001020527
HUGO HGNC:25240
OMIM 608663
CCDS CCDS31782
HPRD 18746
IMGT
EMBL AC009248 AC009778 AC063924 AL833405 BC098410 BC136445
GenPept AAH98410 AAI36446 CAD38638