Q9HCE9 (ANO8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 64.
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-8 Alternative name(s): Transmembrane protein 16H | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1232 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May act as a calcium-activated chloride channel. |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | Expressed in embryonic stem cells, fetal brain and neural tissues. Ref.5 |
| Sequence similarities | Belongs to the anoctamin family. |
| Sequence caution | The sequence BAB13449.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Transmembrane Transmembrane helix |
| Ligand | Calcium Chloride |
| Molecular function | Chloride channel Ionic channel |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HCE9-1) 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: Q9HCE9-2) The sequence of this isoform differs from the canonical sequence as follows: 1112-1114: TAL → HKL 1115-1232: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1232 | 1232 | Anoctamin-8 | PRO_0000249003 | |||||
Regions | |||||||||
| Topological domain | 1 – 244 | 244 | Extracellular Potential | ||||||
| Transmembrane | 245 – 265 | 21 | Helical; Potential | ||||||
| Topological domain | 266 – 281 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 282 – 302 | 21 | Helical; Potential | ||||||
| Topological domain | 303 – 356 | 54 | Extracellular Potential | ||||||
| Transmembrane | 357 – 377 | 21 | Helical; Potential | ||||||
| Topological domain | 378 – 400 | 23 | Cytoplasmic Potential | ||||||
| Transmembrane | 401 – 421 | 21 | Helical; Potential | ||||||
| Topological domain | 422 – 437 | 16 | Extracellular Potential | ||||||
| Transmembrane | 438 – 458 | 21 | Helical; Potential | ||||||
| Topological domain | 459 – 750 | 292 | Cytoplasmic Potential | ||||||
| Transmembrane | 751 – 771 | 21 | Helical; Potential | ||||||
| Topological domain | 772 – 807 | 36 | Extracellular Potential | ||||||
| Transmembrane | 808 – 828 | 21 | Helical; Potential | ||||||
| Topological domain | 829 – 841 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 842 – 862 | 21 | Helical; Potential | ||||||
| Topological domain | 863 – 1232 | 370 | Extracellular Potential | ||||||
| Compositional bias | 353 – 518 | 166 | Leu-rich | ||||||
| Compositional bias | 533 – 580 | 48 | Gly-rich | ||||||
| Compositional bias | 554 – 673 | 120 | Glu-rich | ||||||
| Compositional bias | 1130 – 1222 | 93 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1112 – 1114 | 3 | TAL → HKL in isoform 2. | VSP_020351 | |||||
| Alternative sequence | 1115 – 1232 | 118 | Missing in isoform 2. | VSP_020352 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [3] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | 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]. |
| [5] | "Identification and characterization of TMEM16H gene in silico." Katoh M., Katoh M. Int. J. Mol. Med. 15:353-358(2005) [PubMed: 15647853] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), TISSUE SPECIFICITY. |
| [6] | "TMEM16A confers receptor-activated calcium-dependent chloride conductance." Yang Y.D., Cho H., Koo J.Y., Tak M.H., Cho Y., Shim W.-S., Park S.P., Lee J., Lee B., Kim B.-M., Raouf R., Shin Y.K., Oh U. Nature 455:1210-1215(2008) [PubMed: 18724360] [Abstract] Cited for: IDENTIFICATION AS PUTATIVE CHLORIDE CHANNEL. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB046843 mRNA. Translation: BAB13449.2. Different initiation. AC010463 Genomic DNA. No translation available. CH471106 Genomic DNA. Translation: EAW84595.1. |
| IPI | IPI00288964. IPI00784797. |
| RefSeq | NP_066010.1. NM_020959.2. |
| UniGene | Hs.590990. |
3D structure databases | |
| ProteinModelPortal | Q9HCE9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HCE9. 1 interaction. |
| STRING | Q9HCE9. |
PTM databases | |
| PhosphoSite | Q9HCE9. |
Polymorphism databases | |
| DMDM | 114152287. |
Proteomic databases | |
| PRIDE | Q9HCE9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000159087; ENSP00000159087; ENSG00000074855. |
| GeneID | 57719. |
| KEGG | hsa:57719. |
| UCSC | uc002ngf.1. human. |
Organism-specific databases | |
| CTD | 57719. |
| GeneCards | GC19M017434. |
| H-InvDB | HIX0014889. |
| HGNC | HGNC:29329. ANO8. |
| MIM | 610216. gene. |
| neXtProt | NX_Q9HCE9. |
| PharmGKB | PA164715790. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG19103. |
| GeneTree | ENSGT00600000084125. |
| HOGENOM | HBG713950. |
| HOVERGEN | HBG100443. |
| InParanoid | Q9HCE9. |
| OMA | PAGCWQW. |
| OrthoDB | EOG41JZBJ. |
| PhylomeDB | Q9HCE9. |
Gene expression databases | |
| ArrayExpress | Q9HCE9. |
| Bgee | Q9HCE9. |
| CleanEx | HS_ANO8. |
| Genevestigator | Q9HCE9. |
| GermOnline | ENSG00000074855. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007632. Anoctamin. [Graphical view] |
| PANTHER | PTHR12308. DUF590. 1 hit. |
| Pfam | PF04547. Anoctamin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 64654. |
| SOURCE | Search... |
Entry information
| Entry name | ANO8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HCE9 Secondary accession number(s): A6NIJ0 | ||||||||
| 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 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| 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