Q9H568 (ACTL8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 70.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Actin-like protein 8 Alternative name(s): Cancer/testis antigen 57 Short name=CT57 | ||
| Gene names |
| ||
| 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 | 366 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Cytoplasm › cytoskeleton By similarity. |
| Tissue specificity | Strongly expressed in testis and pancreas. Weak expression in placenta. Ref.5 |
| Sequence similarities | Belongs to the actin family. |
| Sequence caution | The sequence AAA62476.1 differs from that shown. Reason: Frameshift at positions 30, 49, 110, 127, 141, 344, 347 and 354. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA cytoskeletonInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 366 | 366 | Actin-like protein 8 | PRO_0000286171 | |||||
Natural variations | |||||||||
| Natural variant | 3 | 1 | A → S. Ref.2 Ref.4 Corresponds to variant rs694214 [ dbSNP | Ensembl ]. | VAR_032079 | |||||
| Natural variant | 245 | 1 | R → C. Corresponds to variant rs3795322 [ dbSNP | Ensembl ]. | VAR_032080 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Partial sequencing and chromosome mapping of cDNA clones from a Burkitt's lymphoma." Sanders R. Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: B-cell lymphoma. |
| [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], VARIANT SER-3. Tissue: Testis. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-3. Tissue: Brain. |
| [5] | "Identification of cancer/testis-antigen genes by massively parallel signature sequencing." Chen Y.-T., Scanlan M.J., Venditti C.A., Chua R., Theiler G., Stevenson B.J., Iseli C., Gure A.O., Vasicek T., Strausberg R.L., Jongeneel C.V., Old L.J., Simpson A.J.G. Proc. Natl. Acad. Sci. U.S.A. 102:7940-7945(2005) [PubMed: 15905330] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U20582 mRNA. Translation: AAA62476.1. Frameshift. AK057339 mRNA. Translation: BAB71434.1. AL136529 Genomic DNA. Translation: CAC15940.1. BC028909 mRNA. Translation: AAH28909.1. |
| IPI | IPI00329820. |
| RefSeq | NP_110439.2. NM_030812.2. |
| UniGene | Hs.2149. |
3D structure databases | |
| ProteinModelPortal | Q9H568. |
| SMR | Q9H568. Positions 2-365. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9H568. |
Polymorphism databases | |
| DMDM | 74752665. |
Proteomic databases | |
| PRIDE | Q9H568. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000235799; ENSP00000235799; ENSG00000117148. ENST00000375406; ENSP00000364555; ENSG00000117148. |
| GeneID | 81569. |
| KEGG | hsa:81569. |
| UCSC | uc001bat.1. human. |
Organism-specific databases | |
| CTD | 81569. |
| GeneCards | GC01P018081. |
| H-InvDB | HIX0000184. |
| HGNC | HGNC:24018. ACTL8. |
| HPA | HPA027176. |
| neXtProt | NX_Q9H568. |
| PharmGKB | PA142672644. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG14596. |
| GeneTree | ENSGT00600000084408. |
| HOGENOM | HBG559892. |
| HOVERGEN | HBG094566. |
| InParanoid | Q9H568. |
| OMA | VSHVMAC. |
| OrthoDB | EOG4R7V9W. |
| PhylomeDB | Q9H568. |
Gene expression databases | |
| ArrayExpress | Q9H568. |
| Bgee | Q9H568. |
| CleanEx | HS_ACTL8. |
| Genevestigator | Q9H568. |
Family and domain databases | |
| InterPro | IPR004000. Actin-like. [Graphical view] |
| PANTHER | PTHR11937. Actin_like. 1 hit. |
| Pfam | PF00022. Actin. 1 hit. [Graphical view] |
| PRINTS | PR00190. ACTIN. |
| SMART | SM00268. ACTIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 71862. |
Entry information
| Entry name | ACTL8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H568 Secondary accession number(s): Q13104, Q96M75 | ||||||||
| 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 1 Human chromosome 1: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with