P63261 (ACTG_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 97.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Actin, cytoplasmic 2 Alternative name(s): Gamma-actin Cleaved into the following chain: | ||||
| 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 | 375 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| 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. |
| Subcellular location | |
| Post-translational modification | The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the mouse ortholog. |
| Involvement in disease | Defects in ACTG1 are the cause of deafness autosomal dominant type 20 (DFNA20) [MIM:604717]; also called autosomal dominant deafness type 26 (DFNA26). DFNA20 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Ref.13 Ref.14 Ref.15 |
| 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 |
| Coding sequence diversity | Polymorphism |
| Disease | Deafness Disease mutation Non-syndromic deafness |
| Ligand | ATP-binding Nucleotide-binding |
| PTM | Acetylation Methylation Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological process | adherens junction organization Traceable author statement. Source: Reactome axon guidanceTraceable author statement. Source: Reactome blood coagulationTraceable author statement. Source: Reactome cell junction assemblyTraceable author statement. Source: Reactome cellular component movementTraceable author statement. Source: UniProtKB |
| Cellular component | cytosol Traceable author statement. Source: Reactome |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW identical protein bindingInferred from physical interaction. Source: IntAct structural constituent of cytoskeletonInferred by curator. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| itself | 2 | EBI-351292,EBI-351292 | ||
| CFL2 | Q9Y281 | 2 | EBI-351292,EBI-351218 | |
| MLH1 | P40692 | 7 | EBI-351292,EBI-744248 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 375 | 375 | Actin, cytoplasmic 2 | PRO_0000367100 | |||||
| Initiator methionine | 1 | 1 | Removed; alternate Ref.6 Ref.7 Ref.8 | ||||||
| Chain | 2 – 375 | 374 | Actin, cytoplasmic 2, N-terminally processed | PRO_0000000831 | |||||
Amino acid modifications | |||||||||
| Modified residue | 1 | 1 | N-acetylmethionine; in Actin, cytoplasmic 2; alternate By similarity | ||||||
| Modified residue | 2 | 1 | N-acetylglutamate; in Actin, cytoplasmic 2, N-terminally processed; partial Ref.7 Ref.8 | ||||||
| Modified residue | 73 | 1 | Tele-methylhistidine Ref.8 | ||||||
| Modified residue | 169 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 198 | 1 | Phosphotyrosine Ref.11 | ||||||
| Modified residue | 294 | 1 | Phosphotyrosine Ref.11 | ||||||
| Modified residue | 318 | 1 | Phosphothreonine Ref.12 | ||||||
Natural variations | |||||||||
| Natural variant | 89 | 1 | T → I in DFNA20. Ref.13 Corresponds to variant rs28999111 [ dbSNP | Ensembl ]. | VAR_032434 | |||||
| Natural variant | 118 | 1 | K → M in DFNA20. Ref.13 | VAR_032435 | |||||
| Natural variant | 160 | 1 | T → I. Corresponds to variant rs11549206 [ dbSNP | Ensembl ]. | VAR_048186 | |||||
| Natural variant | 243 | 1 | P → L. Corresponds to variant rs11546899 [ dbSNP | Ensembl ]. | VAR_055482 | |||||
| Natural variant | 264 | 1 | P → L in DFNA20. Ref.13 | VAR_032436 | |||||
| Natural variant | 278 | 1 | T → I in DFNA20. Ref.14 Corresponds to variant rs28999112 [ dbSNP | Ensembl ]. | VAR_032437 | |||||
| Natural variant | 332 | 1 | P → A in DFNA20. Ref.13 | VAR_032438 | |||||
| Natural variant | 370 | 1 | V → A in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation. Ref.15 | VAR_032439 | |||||
Experimental info | |||||||||
| Sequence conflict | 316 | 1 | E → K in AAA51580. Ref.10 | ||||||
| Sequence conflict | 344 | 1 | S → F in AAA51580. Ref.10 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes." Erba H.P., Gunning P., Kedes L. Nucleic Acids Res. 14:5275-5294(1986) [PubMed: 3737401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes." Erba H.P., Eddy R., Shows T., Kedes L., Gunning P. Mol. Cell. Biol. 8:1775-1789(1988) [PubMed: 2837653] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "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]. |
| [4] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [5] | "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: B-cell, Eye, Lung, Ovary, Placenta, Skin and Uterus. |
| [6] | "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. |
| [7] | Bienvenut W.V. Submitted (JUN-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-18; 29-37; 40-50; 85-113; 148-177; 184-191; 197-206; 239-254; 292-312 AND 316-326, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT GLU-2, MASS SPECTROMETRY. Tissue: B-cell lymphoma. |
| [8] | Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W., Dozynkiewicz M., Norman J.C. Submitted (JUN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-116; 119-210; 216-254 AND 291-372, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT GLU-2, METHYLATION AT HIS-73, MASS SPECTROMETRY. Tissue: Ovarian carcinoma. |
| [9] | Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 29-39; 85-113; 239-254 AND 292-312, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell. |
| [10] | "Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related." Chou C.C., Davis R.C., Fuller M.L., Slovin J.P., Wong A., Wright J., Kania S., Shaked R., Gatti R.A., Salser W.A. Proc. Natl. Acad. Sci. U.S.A. 84:2575-2579(1987) [PubMed: 3472224] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 144-375. |
| [11] | "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-198 AND TYR-294, MASS SPECTROMETRY. Tissue: Lung carcinoma. |
| [12] | "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. |
| [13] | "Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)." Zhu M., Yang T., Wei S., DeWan A.T., Morell R.J., Elfenbein J.L., Fisher R.A., Leal S.M., Smith R.J.H., Friderici K.H. Am. J. Hum. Genet. 73:1082-1091(2003) [PubMed: 13680526] [Abstract] Cited for: VARIANTS DFNA20 ILE-89; MET-118; LEU-264 AND ALA-332. |
| [14] | "A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)." van Wijk E., Krieger E., Kemperman M.H., De Leenheer E.M.R., Huygen P.L.M., Cremers C.W.R.J., Cremers F.P.M., Kremer H. J. Med. Genet. 40:879-884(2003) [PubMed: 14684684] [Abstract] Cited for: VARIANT DFNA20 ILE-278. |
| [15] | "A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment." Rendtorff N.D., Zhu M., Fagerheim T., Antal T.L., Jones M., Teslovich T.M., Gillanders E.M., Barmada M., Teig E., Trent J.M., Friderici K.H., Stephan D.A., Tranebjaerg L. Eur. J. Hum. Genet. 14:1097-1105(2006) [PubMed: 16773128] [Abstract] Cited for: VARIANT DFNA20 ALA-370, CHARACTERIZATION OF VARIANT DFNA20 ALA-370. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X04098 mRNA. Translation: CAA27723.1. M19283 Genomic DNA. Translation: AAA51579.1. AK291937 mRNA. Translation: BAF84626.1. BT019856 mRNA. Translation: AAV38659.1. BC000292 mRNA. Translation: AAH00292.1. BC001920 mRNA. Translation: AAH01920.1. BC007442 mRNA. Translation: AAH07442.1. BC009848 mRNA. Translation: AAH09848.1. BC010999 mRNA. Translation: AAH10999.1. BC012050 mRNA. Translation: AAH12050.1. BC015005 mRNA. Translation: AAH15005.1. BC015695 mRNA. Translation: AAH15695.1. BC015779 mRNA. Translation: AAH15779.1. BC018774 mRNA. Translation: AAH18774.1. BC053572 mRNA. Translation: AAH53572.1. M16247 mRNA. Translation: AAA51580.1. |
| IPI | IPI00021440. |
| PIR | ATHUG. A28098. JC5818. |
| RefSeq | NP_001186883.1. NM_001199954.1. NP_001605.1. NM_001614.3. |
| UniGene | Hs.514581. |
3D structure databases | |
| ProteinModelPortal | P63261. |
| SMR | P63261. Positions 2-375. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P63261. 34 interactions. |
| MINT | MINT-4998686. |
| STRING | P63261. |
PTM databases | |
| PhosphoSite | P63261. |
Polymorphism databases | |
| DMDM | 54036678. |
2D gel databases | |
| SWISS-2DPAGE | P63261. |
| DOSAC-COBS-2DPAGE | P60709_OR_P63261. P63261. |
| OGP | P63261. |
| PMMA-2DPAGE | P63261. |
| REPRODUCTION-2DPAGE | P63261. |
Proteomic databases | |
| PRIDE | P63261. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000331925; ENSP00000331514; ENSG00000184009. |
| GeneID | 71. |
| KEGG | hsa:71. |
| UCSC | uc002kaj.1. human. |
Organism-specific databases | |
| CTD | 71. |
| GeneCards | GC17M079476. |
| H-InvDB | HIX0020804. |
| HGNC | HGNC:144. ACTG1. |
| HPA | CAB013531. |
| MIM | 102560. gene. 604717. phenotype. |
| neXtProt | NX_P63261. |
| Orphanet | 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA. |
| PharmGKB | PA24468. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | HBG003771. |
| InParanoid | P63261. |
| OMA | IAMEEEI. |
| OrthoDB | EOG41JZC9. |
| PhylomeDB | P63261. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. REACT_111155. Cell-Cell communication. REACT_11123. Membrane Trafficking. REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | P63261. |
| Bgee | P63261. |
| CleanEx | HS_ACTB. HS_ACTG1. |
| Genevestigator | P63261. |
| GermOnline | ENSG00000184009. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004000. Actin-like. IPR020902. Actin/actin-like_CS. IPR004001. Actin_CS. [Graphical view] |
| KO | K05692. |
| 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 | |
| NextBio | 279. |
| PMAP-CutDB | P63261. |
| SOURCE | Search... |
Entry information
| Entry name | ACTG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P63261 Secondary accession number(s): A8K7C2 Q96E67 | ||||||||
| 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 17 Human chromosome 17: 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