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UniProtKB - Q4KMQ2 (ANO6_HUMAN)

Protein

Anoctamin-6

Gene

ANO6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.By similarity5 Publications

Miscellaneous

The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

Activity regulationi

Exhibits synergistic gating by Ca2+ and voltage. Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions (By similarity).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChloride channel, Ion channel, Voltage-gated channel
Biological processIon transport, Lipid transport, Transport
LigandChloride

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

TCDBi1.A.17.1.4 the calcium-dependent chloride channel (ca-clc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Anoctamin-6
Alternative name(s):
Small-conductance calcium-activated nonselective cation channel
Short name:
SCAN channel
Transmembrane protein 16F
Gene namesi
Name:ANO6
Synonyms:TMEM16F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000177119.15
HGNCiHGNC:25240 ANO6
MIMi608663 gene
neXtProtiNX_Q4KMQ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 294CytoplasmicSequence analysisAdd BLAST294
Transmembranei295 – 315HelicalSequence analysisAdd BLAST21
Topological domaini316 – 375ExtracellularSequence analysisAdd BLAST60
Transmembranei376 – 396HelicalSequence analysisAdd BLAST21
Topological domaini397 – 454CytoplasmicSequence analysisAdd BLAST58
Transmembranei455 – 475HelicalSequence analysisAdd BLAST21
Topological domaini476 – 513ExtracellularSequence analysisAdd BLAST38
Transmembranei514 – 534HelicalSequence analysisAdd BLAST21
Topological domaini535 – 551CytoplasmicSequence analysisAdd BLAST17
Transmembranei552 – 572HelicalSequence analysisAdd BLAST21
Topological domaini573 – 669ExtracellularSequence analysisAdd BLAST97
Transmembranei670 – 690HelicalSequence analysisAdd BLAST21
Topological domaini691 – 725CytoplasmicSequence analysisAdd BLAST35
Transmembranei726 – 746HelicalSequence analysisAdd BLAST21
Topological domaini747 – 824ExtracellularSequence analysisAdd BLAST78
Transmembranei825 – 845HelicalSequence analysisAdd BLAST21
Topological domaini846 – 910CytoplasmicSequence analysisAdd BLAST65

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Scott syndrome (SCTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:262890

Organism-specific databases

DisGeNETi196527
MalaCardsiANO6
MIMi262890 phenotype
OpenTargetsiENSG00000177119
Orphaneti806 Scott syndrome
PharmGKBiPA164715690

Polymorphism and mutation databases

BioMutaiANO6
DMDMi116242820

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001917571 – 910Anoctamin-6Add BLAST910

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi361N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi493N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi777N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi790N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi802N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ4KMQ2
MaxQBiQ4KMQ2
PaxDbiQ4KMQ2
PeptideAtlasiQ4KMQ2
PRIDEiQ4KMQ2
ProteomicsDBi62203
62204 [Q4KMQ2-2]

PTM databases

iPTMnetiQ4KMQ2
PhosphoSitePlusiQ4KMQ2
SwissPalmiQ4KMQ2

Expressioni

Tissue specificityi

Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer.1 Publication

Gene expression databases

BgeeiENSG00000177119 Expressed in 210 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_ANO6
ExpressionAtlasiQ4KMQ2 baseline and differential
GenevisibleiQ4KMQ2 HS

Organism-specific databases

HPAiHPA038958

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi128218, 33 interactors
IntActiQ4KMQ2, 7 interactors
MINTiQ4KMQ2
STRINGi9606.ENSP00000409126

Structurei

3D structure databases

ProteinModelPortaliQ4KMQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the anoctamin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2514 Eukaryota
ENOG410XS4S LUCA
GeneTreeiENSGT00760000119015
HOGENOMiHOG000006509
HOVERGENiHBG069519
InParanoidiQ4KMQ2
KOiK19500
OMAiKHNIYYW
OrthoDBiEOG091G01JF
PhylomeDBiQ4KMQ2
TreeFamiTF314265

Family and domain databases

InterProiView protein in InterPro
IPR032394 Anoct_dimer
IPR007632 Anoctamin
IPR031295 Anoctamin-6
PANTHERiPTHR12308 PTHR12308, 1 hit
PTHR12308:SF21 PTHR12308:SF21, 1 hit
PfamiView protein in Pfam
PF16178 Anoct_dimer, 1 hit
PF04547 Anoctamin, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: Q4KMQ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKKMSRNVLL QMEEEEDDDD GDIVLENLGQ TIVPDLGSLE SQHDFRTPEF 
        60         70         80         90        100
EEFNGKPDSL FFNDGQRRID FVLVYEDESR KETNKKGTNE KQRRKRQAYE 
       110        120        130        140        150
SNLICHGLQL EATRSVLDDK LVFVKVHAPW EVLCTYAEIM HIKLPLKPND 
       160        170        180        190        200
LKNRSSAFGT LNWFTKVLSV DESIIKPEQE FFTAPFEKNR MNDFYIVDRD 
       210        220        230        240        250
AFFNPATRSR IVYFILSRVK YQVINNVSKF GINRLVNSGI YKAAFPLHDC 
       260        270        280        290        300
KFRRQSEDPS CPNERYLLYR EWAHPRSIYK KQPLDLIRKY YGEKIGIYFA 
       310        320        330        340        350
WLGYYTQMLL LAAVVGVACF LYGYLNQDNC TWSKEVCHPD IGGKIIMCPQ 
       360        370        380        390        400
CDRLCPFWKL NITCESSKKL CIFDSFGTLV FAVFMGVWVT LFLEFWKRRQ 
       410        420        430        440        450
AELEYEWDTV ELQQEEQARP EYEARCTHVV INEITQEEER IPFTAWGKCI 
       460        470        480        490        500
RITLCASAVF FWILLIIASV IGIIVYRLSV FIVFSAKLPK NINGTDPIQK 
       510        520        530        540        550
YLTPQTATSI TASIISFIII MILNTIYEKV AIMITNFELP RTQTDYENSL 
       560        570        580        590        600
TMKMFLFQFV NYYSSCFYIA FFKGKFVGYP GDPVYWLGKY RNEECDPGGC 
       610        620        630        640        650
LLELTTQLTI IMGGKAIWNN IQEVLLPWIM NLIGRFHRVS GSEKITPRWE 
       660        670        680        690        700
QDYHLQPMGK LGLFYEYLEM IIQFGFVTLF VASFPLAPLL ALVNNILEIR 
       710        720        730        740        750
VDAWKLTTQF RRLVPEKAQD IGAWQPIMQG IAILAVVTNA MIIAFTSDMI 
       760        770        780        790        800
PRLVYYWSFS VPPYGDHTSY TMEGYINNTL SIFKVADFKN KSKGNPYSDL 
       810        820        830        840        850
GNHTTCRYRD FRYPPGHPQE YKHNIYYWHV IAAKLAFIIV MEHVIYSVKF 
       860        870        880        890        900
FISYAIPDVS KRTKSKIQRE KYLTQKLLHE NHLKDMTKNM GVIAERMIEA 
       910
VDNNLRPKSE
Length:910
Mass (Da):106,165
Last modified:October 17, 2006 - v2
Checksum:i8F7F1CB78FAAEB78
GO
Isoform 2 (identifier: Q4KMQ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: I → IGDVPASRRPFLTPHTHLPSSL

Note: No experimental confirmation available.
Show »
Length:931
Mass (Da):108,433
Checksum:i6F0149C7FB67A371
GO
Isoform 3 (identifier: Q4KMQ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MKKMSRNVLLQMEEEEDDDDGDI → MFCAA

Note: Gene prediction based on EST data.
Show »
Length:892
Mass (Da):103,966
Checksum:i9FC6A98229E57118
GO
Isoform 4 (identifier: Q4KMQ2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     843-910: HVIYSVKFFI...VDNNLRPKSE → YLALLPRLGH...PCFSVSNFLS

Note: Gene prediction based on EST data.
Show »
Length:929
Mass (Da):108,102
Checksum:i5B77123875916E01
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VX71F8VX71_HUMAN
Anoctamin-6
ANO6
45Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti837F → L in AAH98410 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028109128A → T. Corresponds to variant dbSNP:rs2162321EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468191 – 23MKKMS…DDGDI → MFCAA in isoform 3. CuratedAdd BLAST23
Alternative sequenceiVSP_04289323I → IGDVPASRRPFLTPHTHLPS SL in isoform 2. 1 Publication1
Alternative sequenceiVSP_046820843 – 910HVIYS…RPKSE → YLALLPRLGHSGMILAHCNL RLPVDCCMCYRFVDEIRLLE QLTSDFIDSLYYIFSISIIS IFFSVTFFFLLLSLGPTPCF SVSNFLS in isoform 4. CuratedAdd BLAST68

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009248 Genomic DNA No translation available.
AC009778 Genomic DNA No translation available.
AC063924 Genomic DNA No translation available.
BC098410 mRNA Translation: AAH98410.1
BC136445 mRNA Translation: AAI36446.1
AL833405 mRNA Translation: CAD38638.1
CCDSiCCDS31782.1 [Q4KMQ2-1]
CCDS44865.1 [Q4KMQ2-4]
CCDS44866.1 [Q4KMQ2-3]
CCDS55819.1 [Q4KMQ2-2]
RefSeqiNP_001020527.2, NM_001025356.2 [Q4KMQ2-1]
NP_001136150.1, NM_001142678.1 [Q4KMQ2-3]
NP_001136151.1, NM_001142679.1 [Q4KMQ2-4]
NP_001191732.1, NM_001204803.1 [Q4KMQ2-2]
UniGeneiHs.505339

Genome annotation databases

EnsembliENST00000320560; ENSP00000320087; ENSG00000177119 [Q4KMQ2-1]
ENST00000423947; ENSP00000409126; ENSG00000177119 [Q4KMQ2-2]
ENST00000425752; ENSP00000391417; ENSG00000177119 [Q4KMQ2-4]
ENST00000441606; ENSP00000413137; ENSG00000177119 [Q4KMQ2-3]
GeneIDi196527
KEGGihsa:196527
UCSCiuc001roo.4 human [Q4KMQ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009248 Genomic DNA No translation available.
AC009778 Genomic DNA No translation available.
AC063924 Genomic DNA No translation available.
BC098410 mRNA Translation: AAH98410.1
BC136445 mRNA Translation: AAI36446.1
AL833405 mRNA Translation: CAD38638.1
CCDSiCCDS31782.1 [Q4KMQ2-1]
CCDS44865.1 [Q4KMQ2-4]
CCDS44866.1 [Q4KMQ2-3]
CCDS55819.1 [Q4KMQ2-2]
RefSeqiNP_001020527.2, NM_001025356.2 [Q4KMQ2-1]
NP_001136150.1, NM_001142678.1 [Q4KMQ2-3]
NP_001136151.1, NM_001142679.1 [Q4KMQ2-4]
NP_001191732.1, NM_001204803.1 [Q4KMQ2-2]
UniGeneiHs.505339

3D structure databases

ProteinModelPortaliQ4KMQ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128218, 33 interactors
IntActiQ4KMQ2, 7 interactors
MINTiQ4KMQ2
STRINGi9606.ENSP00000409126

Protein family/group databases

TCDBi1.A.17.1.4 the calcium-dependent chloride channel (ca-clc) family

PTM databases

iPTMnetiQ4KMQ2
PhosphoSitePlusiQ4KMQ2
SwissPalmiQ4KMQ2

Polymorphism and mutation databases

BioMutaiANO6
DMDMi116242820

Proteomic databases

EPDiQ4KMQ2
MaxQBiQ4KMQ2
PaxDbiQ4KMQ2
PeptideAtlasiQ4KMQ2
PRIDEiQ4KMQ2
ProteomicsDBi62203
62204 [Q4KMQ2-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320560; ENSP00000320087; ENSG00000177119 [Q4KMQ2-1]
ENST00000423947; ENSP00000409126; ENSG00000177119 [Q4KMQ2-2]
ENST00000425752; ENSP00000391417; ENSG00000177119 [Q4KMQ2-4]
ENST00000441606; ENSP00000413137; ENSG00000177119 [Q4KMQ2-3]
GeneIDi196527
KEGGihsa:196527
UCSCiuc001roo.4 human [Q4KMQ2-1]

Organism-specific databases

CTDi196527
DisGeNETi196527
EuPathDBiHostDB:ENSG00000177119.15
GeneCardsiANO6
H-InvDBiHIX0010565
HGNCiHGNC:25240 ANO6
HPAiHPA038958
MalaCardsiANO6
MIMi262890 phenotype
608663 gene
neXtProtiNX_Q4KMQ2
OpenTargetsiENSG00000177119
Orphaneti806 Scott syndrome
PharmGKBiPA164715690
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2514 Eukaryota
ENOG410XS4S LUCA
GeneTreeiENSGT00760000119015
HOGENOMiHOG000006509
HOVERGENiHBG069519
InParanoidiQ4KMQ2
KOiK19500
OMAiKHNIYYW
OrthoDBiEOG091G01JF
PhylomeDBiQ4KMQ2
TreeFamiTF314265

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiANO6 human
GenomeRNAii196527
PROiPR:Q4KMQ2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177119 Expressed in 210 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_ANO6
ExpressionAtlasiQ4KMQ2 baseline and differential
GenevisibleiQ4KMQ2 HS

Family and domain databases

InterProiView protein in InterPro
IPR032394 Anoct_dimer
IPR007632 Anoctamin
IPR031295 Anoctamin-6
PANTHERiPTHR12308 PTHR12308, 1 hit
PTHR12308:SF21 PTHR12308:SF21, 1 hit
PfamiView protein in Pfam
PF16178 Anoct_dimer, 1 hit
PF04547 Anoctamin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiANO6_HUMAN
AccessioniPrimary (citable) accession number: Q4KMQ2
Secondary accession number(s): A6NNM6
, B9EGG0, E7ENK4, E9PB30, E9PCT2, Q8N3Q2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 17, 2006
Last modified: September 12, 2018
This is version 123 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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