Q9NW15 (ANO10_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Anoctamin-10 Alternative name(s): Transmembrane protein 16K | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 660 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
| 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. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Neurodegeneration |
| Domain | Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell death Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intracellularInferred from direct assay Ref.8. Source: UniProtKB plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 660 | 660 | Anoctamin-10 | PRO_0000289957 | |||||
Regions | |||||||||
| Topological domain | 1 – 207 | 207 | Cytoplasmic Potential | ||||||
| Transmembrane | 208 – 228 | 21 | Helical; Potential | ||||||
| Topological domain | 229 – 240 | 12 | Extracellular Potential | ||||||
| Transmembrane | 241 – 261 | 21 | Helical; Potential | ||||||
| Topological domain | 262 – 316 | 55 | Cytoplasmic Potential | ||||||
| Transmembrane | 317 – 337 | 21 | Helical; Potential | ||||||
| Topological domain | 338 – 352 | 15 | Extracellular Potential | ||||||
| Transmembrane | 353 – 373 | 21 | Helical; Potential | ||||||
| Topological domain | 374 – 400 | 27 | Cytoplasmic Potential | ||||||
| Transmembrane | 401 – 421 | 21 | Helical; Potential | ||||||
| Topological domain | 422 – 500 | 79 | Extracellular Potential | ||||||
| Transmembrane | 501 – 521 | 21 | Helical; Potential | ||||||
| Topological domain | 522 – 553 | 32 | Cytoplasmic Potential | ||||||
| Transmembrane | 554 – 574 | 21 | Helical; Potential | ||||||
| Topological domain | 575 – 590 | 16 | Extracellular Potential | ||||||
| Transmembrane | 591 – 611 | 21 | Helical; Potential | ||||||
| Topological domain | 612 – 660 | 49 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 47 – 158 | 112 | GAQLL…GKSLL → V in isoform 4. | VSP_038211 | |||||
| Alternative sequence | 47 – 112 | 66 | Missing in isoform 3. | VSP_038212 | |||||
| Alternative sequence | 198 – 387 | 190 | Missing in isoform 2. | VSP_026033 | |||||
| Alternative sequence | 600 – 660 | 61 | HALLA…KEKAT → AASCKLVSLPRYSWSTNSVP GTVIGPGV in isoform 5. | VSP_045885 | |||||
| Natural variant | 462 | 1 | R → Q. Ref.1 Corresponds to variant rs3772165 [ dbSNP | Ensembl ]. | VAR_032638 | |||||
| Natural variant | 510 | 1 | L → R in SCAR10. Ref.12 | VAR_064888 | |||||
| Natural variant | 561 | 1 | T → M. Ref.4 Corresponds to variant rs17409162 [ dbSNP | Ensembl ]. | VAR_032639 | |||||
| Natural variant | 583 | 1 | V → A. Ref.4 Corresponds to variant rs17853862 [ dbSNP | Ensembl ]. | VAR_032640 | |||||
Experimental info | |||||||||
| Isoform 5: | |||||||||
| Sequence conflict | 607 | 1 | S → P in BAG60264. Ref.1 | ||||||
Sequences
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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. 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. 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. 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. 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. |
| IPI | IPI00794169. IPI00797182. IPI00902435. IPI00908702. IPI00925510. |
| RefSeq | NP_001191760.1. NM_001204831.1. NP_001191761.1. NM_001204832.1. NP_001191762.1. NM_001204833.1. NP_001191763.1. NM_001204834.1. NP_060545.3. NM_018075.3. |
| UniGene | Hs.656657. |
3D structure databases | |
| ProteinModelPortal | Q9NW15. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000292246. |
PTM databases | |
| PhosphoSite | Q9NW15. |
Polymorphism databases | |
| DMDM | 148887071. |
Proteomic databases | |
| PaxDb | Q9NW15. |
| PRIDE | Q9NW15. |
Protocols and materials databases | |
| DNASU | 55129. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000292246; ENSP00000292246; ENSG00000160746. ENST00000350459; ENSP00000327767; ENSG00000160746. ENST00000396091; ENSP00000379398; ENSG00000160746. ENST00000414522; ENSP00000396990; ENSG00000160746. ENST00000451430; ENSP00000394119; ENSG00000160746. |
| GeneID | 55129. |
| KEGG | hsa:55129. |
| UCSC | uc003cmv.3. human. uc003cmw.3. human. uc010hil.3. human. uc011azt.2. human. |
Organism-specific databases | |
| CTD | 55129. |
| GeneCards | GC03M043396. |
| HGNC | HGNC:25519. ANO10. |
| HPA | HPA051569. |
| MIM | 613726. gene. 613728. phenotype. |
| neXtProt | NX_Q9NW15. |
| Orphanet | 284289. Adult-onset autosomal recessive cerebellar ataxia. |
| PharmGKB | PA164715433. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG300207. |
| HOVERGEN | HBG071385. |
| OMA | FLPYWLQ. |
| OrthoDB | EOG42RD6W. |
| PhylomeDB | Q9NW15. |
Gene expression databases | |
| ArrayExpress | Q9NW15. |
| Bgee | Q9NW15. |
| CleanEx | HS_ANO10. |
| Genevestigator | Q9NW15. |
Family and domain databases | |
| InterPro | IPR007632. Anoctamin. [Graphical view] |
| PANTHER | PTHR12308. PTHR12308. 1 hit. |
| Pfam | PF04547. Anoctamin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ANO10. human. |
| GenomeRNAi | 55129. |
| NextBio | 58794. |
| SOURCE | Search... |
Entry information
| Entry name | ANO10_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NW15 Secondary accession number(s): A8K8K3 Q8IXX9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
