Reviewed,
UniProtKB/Swiss-Prot Q5XXA6 (ANO1_HUMAN)
Last modified
December 15, 2009.
Version 42.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Anoctamin-1 Alternative name(s): Transmembrane protein 16A Discovered on gastrointestinal stromal tumors protein 1 Oral cancer overexpressed protein 2 Tumor amplified and overexpressed sequence 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 986 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Acts as a calcium-activated chloride channel. Required for normal tracheal development By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Cytoplasm Ref.5 Ref.6. |
| Tissue specificity | Broadly expressed with higher levels in liver and skeletal muscle. Ref.5 Ref.1 |
| Domain | The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region By similarity. |
| Sequence similarities | Belongs to the anoctamin family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5XXA6-1) 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: Q5XXA6-2) The sequence of this isoform differs from the canonical sequence as follows: 1-116: Missing. 448-451: Missing. 476-501: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5XXA6-3) The sequence of this isoform differs from the canonical sequence as follows: 1-28: Missing. 29-36: GYLPSEGT → MLTRPSQV 448-451: Missing. 476-501: Missing. 651-700: CAPGGCLMEL...RYLKLKQQSP → VTEILFISGS...SFLLETFLFP 701-986: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 986 | 986 | Anoctamin-1 | PRO_0000288435 | |||||
Regions | |||||||||
| Topological domain | 1 – 333 | 333 | Cytoplasmic Potential | ||||||
| Transmembrane | 334 – 354 | 21 | Potential | ||||||
| Topological domain | 355 – 402 | 48 | Extracellular Potential | ||||||
| Transmembrane | 403 – 423 | 21 | Potential | ||||||
| Topological domain | 424 – 519 | 96 | Cytoplasmic Potential | ||||||
| Transmembrane | 520 – 540 | 21 | Potential | ||||||
| Topological domain | 541 – 565 | 25 | Extracellular Potential | ||||||
| Transmembrane | 566 – 586 | 21 | Potential | ||||||
| Topological domain | 587 – 606 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 607 – 627 | 21 | Potential | ||||||
| Topological domain | 628 – 731 | 104 | Extracellular Potential | ||||||
| Transmembrane | 732 – 752 | 21 | Potential | ||||||
| Topological domain | 753 – 791 | 39 | Cytoplasmic Potential | ||||||
| Transmembrane | 792 – 812 | 21 | Potential | ||||||
| Topological domain | 813 – 882 | 70 | Extracellular Potential | ||||||
| Transmembrane | 883 – 903 | 21 | Potential | ||||||
| Topological domain | 904 – 986 | 83 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 832 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 116 | 116 | Missing in isoform 2. | VSP_025665 | |||||
| Alternative sequence | 1 – 28 | 28 | Missing in isoform 3. | VSP_025666 | |||||
| Alternative sequence | 29 – 36 | 8 | GYLPSEGT → MLTRPSQV in isoform 3. | VSP_025667 | |||||
| Alternative sequence | 448 – 451 | 4 | Missing in isoform 2 and isoform 3. | VSP_025668 | |||||
| Alternative sequence | 476 – 501 | 26 | Missing in isoform 2 and isoform 3. | VSP_025669 | |||||
| Alternative sequence | 651 – 700 | 50 | CAPGG…KQQSP → VTEILFISGSPFCLAYDLST PCTWEKQLQHICSAKSSRFL SFLLETFLFP in isoform 3. | VSP_025670 | |||||
| Alternative sequence | 701 – 986 | 286 | Missing in isoform 3. | VSP_025671 | |||||
| Natural variant | 608 | 1 | F → S: dbSNP rs2186797. | VAR_032417 | |||||
| Natural variant | 983 | 1 | G → R: dbSNP rs3740722. | VAR_032418 | |||||
Experimental info | |||||||||
| Sequence conflict | 202 | 1 | T → A in BAF85777. Ref.2 | ||||||
| Sequence conflict | 801 | 1 | N → D in AAH33036. Ref.3 | ||||||
| Sequence conflict | 948 | 1 | W → C in AAH33036. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Comprehensive genome and transcriptome analysis of the 11q13 amplicon in human oral cancer and synteny to the 7F5 amplicon in murine oral carcinoma." Huang X., Godfrey T.E., Gooding W.E., McCarty K.S. Jr., Gollin S.M. Genes Chromosomes Cancer 45:1058-1069(2006) [PubMed: 16906560] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Testis and Uterus. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis. |
| [4] | "FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products." Katoh M., Katoh M. Int. J. Oncol. 22:1375-1381(2003) [PubMed: 12739008] [Abstract] Cited for: IDENTIFICATION, TOPOLOGY. |
| [5] | "The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status." West R.B., Corless C.L., Chen X., Rubin B.P., Subramanian S., Montgomery K., Zhu S., Ball C.A., Nielsen T.O., Patel R., Goldblum J.R., Brown P.O., Heinrich M.C., van de Rijn M. Am. J. Pathol. 165:107-113(2004) [PubMed: 15215166] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [6] | "Head and neck squamous cell carcinoma transcriptome analysis by comprehensive validated differential display." Carles A., Millon R., Cromer A., Ganguli G., Lemaire F., Young J., Wasylyk C., Muller D., Schultz I., Rabouel Y., Dembele D., Zhao C., Marchal P., Ducray C., Bracco L., Abecassis J., Poch O., Wasylyk B. Oncogene 25:1821-1831(2006) [PubMed: 16261155] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY728143 mRNA. Translation: AAU82085.1. AK097619 mRNA. Translation: BAC05123.1. AK293088 mRNA. Translation: BAF85777.1. BC033036 mRNA. Translation: AAH33036.2. | |
| IPI | IPI00384668. IPI00395839. IPI00873502. |
| RefSeq | NP_060513.5. |
| UniGene | Hs.503074 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q5XXA6. |
PTM databases | |
| PhosphoSite | Q5XXA6. |
Proteomic databases | |
| PRIDE | Q5XXA6. |
Genome annotation databases | |
| Ensembl | ENST00000355303; ENSP00000347454; ENSG00000131620; Homo sapiens. [Genome view] |
| GeneID | 55107. |
| KEGG | hsa:55107. |
| UCSC | uc001opj.1. human. uc001opk.1. human. |
Organism-specific databases | |
| CTD | 55107. |
| GeneCards | GC11P069604. |
| HGNC | HGNC:21625. ANO1. |
| MIM | 610108. gene. |
| PharmGKB | PA128394678. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG357842. |
| HOVERGEN | Q5XXA6. |
| InParanoid | Q5XXA6. |
| OMA | CIARWLT. |
| OrthoDB | EOG9X9B37. |
Gene expression databases | |
| ArrayExpress | Q5XXA6. |
| Bgee | Q5XXA6. |
| CleanEx | HS_ANO1. |
| Genevestigator | Q5XXA6. |
Family and domain databases | |
| InterPro | IPR007632. DUF590. [Graphical view] |
| PANTHER | PTHR12308. DUF590. 1 hit. |
| Pfam | PF04547. DUF590. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | ANO1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5XXA6 Secondary accession number(s): A8KAM3, Q8IYY8, Q8N7V3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 11 Human chromosome 11: 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


