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
|
|
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 |
|
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
|
|
|
|
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 |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007632
Anoctamin
|
PFAM |
PF04547
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
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
|
|
|