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Q9NW15 (ANO10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Anoctamin-10
Alternative name(s):
Transmembrane protein 16K
Gene names
Name:ANO10
Synonyms:TMEM16K
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. Ref.5 Ref.11

Subcellular location

Cell membrane; Multi-pass membrane protein. Note: Shows predominantly an intracellular localization with a weak expression in the cell membrane. Ref.5 Ref.8 Ref.11

Tissue specificity

Highly expressed in the brain. Intermediate levels in the retina and heart and low levels in the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal and occipital cortices and in the cerebellum. Lower expression in the fetal brain than in the adult brain. Ref.12

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

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.

Sequence similarities

Belongs to the anoctamin family.

Sequence caution

The sequence BAA91573.1 differs from that shown. Reason: Contaminating sequence.

The sequence BC038855 differs from that shown. Reason: Frameshift at position 42.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NW15-1)

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.
Isoform 2 (identifier: Q9NW15-2)

The sequence of this isoform differs from the canonical sequence as follows:
     198-387: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NW15-3)

The sequence of this isoform differs from the canonical sequence as follows:
     47-112: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NW15-4)

The sequence of this isoform differs from the canonical sequence as follows:
     47-158: GAQLLFRPLL...AKLYPGKSLL → V
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9NW15-5)

The sequence of this isoform differs from the canonical sequence as follows:
     600-660: HALLALKFIL...PMESGKEKAT → AASCKLVSLPRYSWSTNSVPGTVIGPGV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Anoctamin-10
PRO_0000289957

Regions

Topological domain1 – 207207Cytoplasmic Potential
Transmembrane208 – 22821Helical; Potential
Topological domain229 – 24012Extracellular Potential
Transmembrane241 – 26121Helical; Potential
Topological domain262 – 31655Cytoplasmic Potential
Transmembrane317 – 33721Helical; Potential
Topological domain338 – 35215Extracellular Potential
Transmembrane353 – 37321Helical; Potential
Topological domain374 – 40027Cytoplasmic Potential
Transmembrane401 – 42121Helical; Potential
Topological domain422 – 50079Extracellular Potential
Transmembrane501 – 52121Helical; Potential
Topological domain522 – 55332Cytoplasmic Potential
Transmembrane554 – 57421Helical; Potential
Topological domain575 – 59016Extracellular Potential
Transmembrane591 – 61121Helical; Potential
Topological domain612 – 66049Cytoplasmic Potential

Natural variations

Alternative sequence47 – 158112GAQLL…GKSLL → V in isoform 4.
VSP_038211
Alternative sequence47 – 11266Missing in isoform 3.
VSP_038212
Alternative sequence198 – 387190Missing in isoform 2.
VSP_026033
Alternative sequence600 – 66061HALLA…KEKAT → AASCKLVSLPRYSWSTNSVP GTVIGPGV in isoform 5.
VSP_045885
Natural variant4621R → Q. Ref.1
Corresponds to variant rs3772165 [ dbSNP | Ensembl ].
VAR_032638
Natural variant5101L → R in SCAR10. Ref.12
VAR_064888
Natural variant5611T → M. Ref.4
Corresponds to variant rs17409162 [ dbSNP | Ensembl ].
VAR_032639
Natural variant5831V → A. Ref.4
Corresponds to variant rs17853862 [ dbSNP | Ensembl ].
VAR_032640

Experimental info

Isoform 5:
Sequence conflict6071S → P in BAG60264. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 29, 2007. Version 2.
Checksum: 21582D364497ADFD

FASTA66076,329
        10         20         30         40         50         60 
MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE 

        70         80         90        100        110        120 
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT 

       130        140        150        160        170        180 
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK 

       190        200        210        220        230        240 
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY 

       250        260        270        280        290        300 
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK 

       310        320        330        340        350        360 
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY 

       370        380        390        400        410        420 
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA 

       430        440        450        460        470        480 
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE 

       490        500        510        520        530        540 
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV 

       550        560        570        580        590        600 
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH 

       610        620        630        640        650        660 
ALLALKFILA FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT 

« Hide

Isoform 2 [UniParc].

Checksum: E19D897F9DE194AE
Show »

FASTA47053,843
Isoform 3 [UniParc].

Checksum: C9DEE8503AC34E78
Show »

FASTA59468,748
Isoform 4 [UniParc].

Checksum: 2BDE5BF63C2BD6E0
Show »

FASTA54963,526
Isoform 5 [UniParc].

Checksum: 3758F65009CEDDE7
Show »

FASTA62772,144

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANT GLN-462.
Tissue: Substantia nigra, Teratocarcinoma, Testis and Urinary bladder.
[2]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS MET-561 AND ALA-583.
Tissue: Leukocyte.
[5]"Expression and function of epithelial anoctamins."
Schreiber R., Uliyakina I., Kongsuphol P., Warth R., Mirza M., Martins J.R., Kunzelmann K.
J. Biol. Chem. 285:7838-7845(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[6]"Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?"
Duran C., Hartzell H.C.
Acta Pharmacol. Sin. 32:685-692(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[7]"Anoctamins."
Kunzelmann K., Tian Y., Martins J.R., Faria D., Kongsuphol P., Ousingsawat J., Thevenod F., Roussa E., Rock J., Schreiber R.
Pflugers Arch. 462:195-208(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[8]"ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins."
Duran C., Qu Z., Osunkoya A.O., Cui Y., Hartzell H.C.
Am. J. Physiol. 302:C482-C493(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[9]"The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age."
Winpenny J.P., Gray M.A.
Exp. Physiol. 97:175-176(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[10]"The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels."
Scudieri P., Sondo E., Ferrera L., Galietta L.J.
Exp. Physiol. 97:177-183(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW, ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.
[11]"Anoctamins are a family of Ca2+ activated Cl- channels."
Tian Y., Schreiber R., Kunzelmann K.
J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[12]"Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia."
Vermeer S., Hoischen A., Meijer R.P., Gilissen C., Neveling K., Wieskamp N., de Brouwer A., Koenig M., Anheim M., Assoum M., Drouot N., Todorovic S., Milic-Rasic V., Lochmuller H., Stevanin G., Goizet C., David A., Durr A. expand/collapse author list , Brice A., Kremer B., van de Warrenburg B.P., Schijvenaars M.M., Heister A., Kwint M., Arts P., van der Wijst J., Veltman J., Kamsteeg E.J., Scheffer H., Knoers N.
Am. J. Hum. Genet. 87:813-819(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCAR10 ARG-510, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK001237 mRNA. Translation: BAA91573.1. Sequence problems.
AK096302 mRNA. Translation: BAG53253.1.
AK131223 mRNA. Translation: BAG54755.1.
AK292368 mRNA. Translation: BAF85057.1.
AK295969 mRNA. Translation: BAG58745.1.
AK297949 mRNA. Translation: BAG60264.1.
AC097638 Genomic DNA. No translation available.
AC104184 Genomic DNA. No translation available.
AC105903 Genomic DNA. No translation available.
AC135852 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64696.1.
CH471055 Genomic DNA. Translation: EAW64697.1.
BC038855 mRNA. No translation available.
CCDSCCDS2710.2. [Q9NW15-1]
CCDS56247.1. [Q9NW15-4]
CCDS56248.1. [Q9NW15-3]
CCDS56249.1. [Q9NW15-2]
CCDS56250.1. [Q9NW15-5]
RefSeqNP_001191760.1. NM_001204831.1. [Q9NW15-5]
NP_001191761.1. NM_001204832.1. [Q9NW15-3]
NP_001191762.1. NM_001204833.1. [Q9NW15-4]
NP_001191763.1. NM_001204834.1. [Q9NW15-2]
NP_060545.3. NM_018075.3. [Q9NW15-1]
UniGeneHs.656657.

3D structure databases

ProteinModelPortalQ9NW15.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120435. 1 interaction.
STRING9606.ENSP00000292246.

PTM databases

PhosphoSiteQ9NW15.

Polymorphism databases

DMDM148887071.

Proteomic databases

MaxQBQ9NW15.
PaxDbQ9NW15.
PRIDEQ9NW15.

Protocols and materials databases

DNASU55129.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000292246; ENSP00000292246; ENSG00000160746. [Q9NW15-1]
ENST00000350459; ENSP00000327767; ENSG00000160746. [Q9NW15-2]
ENST00000396091; ENSP00000379398; ENSG00000160746. [Q9NW15-3]
ENST00000414522; ENSP00000396990; ENSG00000160746. [Q9NW15-5]
ENST00000451430; ENSP00000394119; ENSG00000160746. [Q9NW15-4]
GeneID55129.
KEGGhsa:55129.
UCSCuc003cmv.3. human. [Q9NW15-1]
uc003cmw.3. human. [Q9NW15-3]
uc010hil.3. human. [Q9NW15-2]
uc011azt.2. human. [Q9NW15-4]

Organism-specific databases

CTD55129.
GeneCardsGC03M043396.
HGNCHGNC:25519. ANO10.
HPAHPA051569.
MIM613726. gene.
613728. phenotype.
neXtProtNX_Q9NW15.
Orphanet284289. Adult-onset autosomal recessive cerebellar ataxia.
PharmGKBPA164715433.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300207.
HOVERGENHBG071385.
OMAWGTLLMK.
OrthoDBEOG7FNC6Q.
PhylomeDBQ9NW15.
TreeFamTF314265.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9NW15.
BgeeQ9NW15.
CleanExHS_ANO10.
GenevestigatorQ9NW15.

Family and domain databases

InterProIPR007632. Anoctamin.
[Graphical view]
PANTHERPTHR12308. PTHR12308. 1 hit.
PfamPF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSANO10. human.
GenomeRNAi55129.
NextBio58794.
PROQ9NW15.
SOURCESearch...

Entry information

Entry nameANO10_HUMAN
AccessionPrimary (citable) accession number: Q9NW15
Secondary accession number(s): A8K8K3 expand/collapse secondary AC list , A8MV74, B3KTZ1, B3KY93, B4DJ83, B4DNK2, B7WP12, C9JHS1, Q8IXX9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: July 9, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM