Reviewed,
UniProtKB/Swiss-Prot P60709 (ACTB_HUMAN)
Last modified
November 25, 2008.
Version 66.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Actin, cytoplasmic 1 Alternative name(s): Beta-actin | ||
| 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 | 375 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. |
| Subunit structure | Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Component of a complex composed at least of ACTB, AP2M1, AP2A1, AP2A2, MEGF10 and VIM. Interacts with XPO6. |
| Subcellular location | |
| Involvement in disease | Defects in ACTB are a cause of juvenile-onset dystonia [MIM:607371]. Dystonia is a movement disorder with a neurological basis, due to disordered tonicity of muscle. It is characterized by sustained involuntary muscle contractions that cause abnormal postures and repetitive movements. It may affect muscles throughout the body (generalized), in certain parts of the body (segmental), or may be confined to particular muscles or muscle groups (focal). Individuals with juvenile-onset dystonia due to ACTB mutations present a complicated phenotype that includes progressive generalized dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. |
| Miscellaneous | In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. |
| Sequence similarities | Belongs to the actin family. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Disease | Deafness Disease mutation |
| Ligand | ATP-binding Nucleotide-binding |
| PTM | Acetylation Methylation Phosphoprotein |
| Technical term | 3D-structure Direct protein sequencing |
Gene Ontology (GO) | |
| Biological process | cell motion Traceable author statement. Source: UniProtKB sensory perception of soundInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | NuA4 histone acetyltransferase complex Inferred from direct assay. Source: UniProtKB cytoskeletonTraceable author statement. Source: UniProtKB |
| Molecular function | ATP binding Inferred from electronic annotation. Source: InterPro nitric-oxide synthase bindingInferred from physical interaction. Source: UniProtKB structural constituent of cytoskeletonTraceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CFL2 | Q9Y281 | 1 | EBI-353944,EBI-351218 | |
| MDM2 | Q00987 | 1 | EBI-353944,EBI-389668 | |
| SMAD3 | P84022 | 1 | EBI-353944,EBI-347161 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Propeptide | 1 | 1 | Removed in mature form | PRO_0000000770 | |||||
| Chain | 2 – 375 | 374 | Actin, cytoplasmic 1 | PRO_0000000771 | |||||
Amino acid modifications | |||||||||
| Modified residue | 1 | 1 | N-acetylmethionine By similarity | ||||||
| Modified residue | 2 | 1 | N-acetylaspartate | ||||||
| Modified residue | 53 | 1 | Phosphotyrosine | ||||||
| Modified residue | 73 | 1 | Tele-methylhistidine By similarity | ||||||
| Modified residue | 91 | 1 | Phosphotyrosine | ||||||
| Modified residue | 166 | 1 | Phosphotyrosine | ||||||
| Modified residue | 198 | 1 | Phosphotyrosine | ||||||
| Modified residue | 218 | 1 | Phosphotyrosine | ||||||
| Modified residue | 294 | 1 | Phosphotyrosine | ||||||
| Modified residue | 318 | 1 | Phosphothreonine | ||||||
Natural variations | |||||||||
| Natural variant | 183 | 1 | R → W in juvenile-onset dystonia; modifies cell response to latrunculin A. | VAR_030026 | |||||
Experimental info | |||||||||
| Sequence conflict | 97 | 1 | A → P in AAH16045. Ref.6 | ||||||
| Sequence conflict | 116 | 1 | R → L in AAH12854. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Evolutionary conservation in the untranslated regions of actin mRNAs: DNA sequence of a human beta-actin cDNA." Ponte P., Ng S.Y., Engel J., Gunning P., Kedes L. Nucleic Acids Res. 12:1687-1696(1984) [PubMed: 6322116] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns." Nakajima-Iijima S., Hamada H., Reddy P., Kakunaga T. Proc. Natl. Acad. Sci. U.S.A. 82:6133-6137(1985) [PubMed: 2994062] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "Direct proof that the primary site of action of cytochalasin on cell motility processes is actin." Ohmori H., Toyama S., Toyama S. J. Cell Biol. 116:933-941(1992) [PubMed: 1734024] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [4] | "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Livingston R.J., Rieder M.J., Chung M.-W., Ritchie T.K., Olson A.N., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Sherwood A.M., Leithauser B.J., Nickerson D.A. Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [5] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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]. Tissue: Eye, Kidney, Muscle, Pancreas, Placenta and Skin. |
| [7] | "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed: 12665801] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-28. Tissue: Platelet. |
| [8] | Bienvenut W.V. Submitted (JUN-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-18; 29-37; 40-50; 85-95; 148-177; 184-191; 197-206; 292-312 AND 316-326, ACETYLATION AT ASP-2, MASS SPECTROMETRY. Tissue: B-cell lymphoma. |
| [9] | Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 29-39; 85-95; 239-254 AND 292-312, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell. |
| [10] | "Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions." Hanukoglu I., Tanese N., Fuchs E. J. Mol. Biol. 163:673-678(1983) [PubMed: 6842590] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 252-375. |
| [11] | "Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes." Stueven T., Hartmann E., Goerlich D. EMBO J. 22:5928-5940(2003) [PubMed: 14592989] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAN; XPO6 AND PFN1, INTERACTION WITH XPO6. |
| [12] | "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J. Nat. Biotechnol. 23:94-101(2005) [PubMed: 15592455] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-166; TYR-218 AND TYR-294, MASS SPECTROMETRY. |
| [13] | "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. Comb M.J.Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-53; TYR-91; TYR-198 AND TYR-294, MASS SPECTROMETRY. Tissue: Lung. |
| [14] | "MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation." Suzuki E., Nakayama M. Exp. Cell Res. 313:3729-3742(2007) [PubMed: 17643423] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH AP2M1; AP2A1; AP2A2; MEGF10 AND VIM. |
| [15] | "Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex." Lange M., Kaynak B., Forster U.B., Toenjes M., Fischer J.J., Grimm C., Schlesinger J., Just S., Dunkel I., Krueger T., Mebus S., Lehrach H., Lurz R., Gobom J., Rottbauer W., Abdelilah-Seyfried S., Sperling S. Genes Dev. 22:2370-2384(2008) [PubMed: 18765789] [Abstract] Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY. |
| [16] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-318, MASS SPECTROMETRY. Tissue: Platelet. |
| [17] | "A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia." Procaccio V., Salazar G., Ono S., Styers M.L., Gearing M., Davila A., Jimenez R., Juncos J., Gutekunst C.-A., Meroni G., Fontanella B., Sontag E., Sontag J.-M., Faundez V., Wainer B.H. Am. J. Hum. Genet. 78:947-960(2006) [PubMed: 16685646] [Abstract] Cited for: VARIANT JUVENILE-ONSET DYSTONIA TRP-183, CHARACTERIZATION OF VARIANT JUVENILE-ONSET DYSTONIA TRP-183. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X00351 mRNA. Translation: CAA25099.1. M10277 Genomic DNA. Translation: AAA51567.1. X63432 mRNA. Translation: CAA45026.1. AY582799 Genomic DNA. Translation: AAS79319.1. AC006483 Genomic DNA. Translation: AAP22343.1. BC001301 mRNA. Translation: AAH01301.1. BC002409 mRNA. Translation: AAH02409.1. BC004251 mRNA. Translation: AAH04251.1. BC012854 mRNA. Translation: AAH12854.1. BC013380 mRNA. Translation: AAH13380.1. BC014861 mRNA. Translation: AAH14861.1. BC016045 mRNA. Translation: AAH16045.1. V00478 mRNA. Translation: CAA23745.1. | |||||||||||||||||||
| PIR | ATHUB. A25168. | ||||||||||||||||||
| RefSeq | NP_001092.1. | ||||||||||||||||||
| UniGene | Hs.520640 Hs.702191 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| SMR | P60709. Positions 4-371. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P60709. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P60709. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| NIEHS-SNPs | Search... | ||||||||||||||||||
2-D gel databases | |||||||||||||||||||
| SWISS-2DPAGE | P60709. | ||||||||||||||||||
| Aarhus/Ghent-2DPAGE | 7316. IEF. | ||||||||||||||||||
| DOSAC-COBS-2DPAGE | P60709. | ||||||||||||||||||
| REPRODUCTION-2DPAGE | P60709. | ||||||||||||||||||
| Siena-2DPAGE | P60709. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PeptideAtlas | P60709. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000075624. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 60. | ||||||||||||||||||
| KEGG | hsa:60. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| HGNC | HGNC:132. ACTB. | ||||||||||||||||||
| HPA | CAB002621. | ||||||||||||||||||
| MIM | 102630. gene. 607371. phenotype. | ||||||||||||||||||
| Orphanet | 256. Early onset torsion dystonia. | ||||||||||||||||||
| PharmGKB | PA24457. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
| GeneCards | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOVERGEN | P60709. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P60709. | ||||||||||||||||||
| CleanEx | HS_ACTB. | ||||||||||||||||||
| GermOnline | ENSG00000075624. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR004001. Actin_CS. 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] | ||||||||||||||||||
| PROSITE | PS00406. ACTINS_1. 1 hit. PS00432. ACTINS_2. 1 hit. PS01132. ACTINS_ACT_LIKE. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| LinkHub | P60709. | ||||||||||||||||||
| NextBio | 253. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | ACTB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P60709 Secondary accession number(s): P02570 Q96B34 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


