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P63261

- ACTG_HUMAN

UniProt

P63261 - ACTG_HUMAN

Protein

Actin, cytoplasmic 2

Gene

ACTG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      Previous versions | rss
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    Functioni

    Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. identical protein binding Source: IntAct
    3. protein binding Source: IntAct
    4. structural constituent of cytoskeleton Source: UniProtKB

    GO - Biological processi

    1. adherens junction organization Source: Reactome
    2. axon guidance Source: Reactome
    3. cell-cell junction organization Source: Reactome
    4. cell junction assembly Source: Reactome
    5. cellular component movement Source: UniProtKB
    6. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
    7. innate immune response Source: Reactome
    8. membrane organization Source: Reactome
    9. retina homeostasis Source: UniProt
    10. sarcomere organization Source: Ensembl

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_11035. Gap junction degradation.
    REACT_11049. Formation of annular gap junctions.
    REACT_147867. Translocation of GLUT4 to the plasma membrane.
    REACT_160086. Regulation of actin dynamics for phagocytic cup formation.
    REACT_19195. Adherens junctions interactions.
    REACT_20649. Cell-extracellular matrix interactions.
    REACT_22266. Interaction between L1 and Ankyrins.
    REACT_22365. Recycling pathway of L1.
    SignaLinkiP63261.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Actin, cytoplasmic 2
    Alternative name(s):
    Gamma-actin
    Cleaved into the following chain:
    Gene namesi
    Name:ACTG1
    Synonyms:ACTB, ACTG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:144. ACTG1.

    Subcellular locationi

    GO - Cellular componenti

    1. blood microparticle Source: UniProt
    2. cytoskeleton Source: UniProtKB
    3. cytosol Source: Reactome
    4. extracellular space Source: UniProt
    5. extracellular vesicular exosome Source: UniProtKB
    6. filamentous actin Source: Ensembl
    7. membrane Source: UniProtKB
    8. myofibril Source: Ensembl
    9. nucleus Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891T → I in DFNA20. 1 Publication
    Corresponds to variant rs28999111 [ dbSNP | Ensembl ].
    VAR_032434
    Natural varianti118 – 1181K → M in DFNA20. 1 Publication
    VAR_032435
    Natural varianti118 – 1181K → N in DFNA20. 1 Publication
    Corresponds to variant rs267606630 [ dbSNP | Ensembl ].
    VAR_067824
    Natural varianti122 – 1221I → V in DFNA20. 1 Publication
    Corresponds to variant rs281875330 [ dbSNP | Ensembl ].
    VAR_067825
    Natural varianti241 – 2411E → K in DFNA20. 1 Publication
    Corresponds to variant rs267606631 [ dbSNP | Ensembl ].
    VAR_067826
    Natural varianti264 – 2641P → L in DFNA20. 1 Publication
    VAR_032436
    Natural varianti278 – 2781T → I in DFNA20. 1 Publication
    Corresponds to variant rs28999112 [ dbSNP | Ensembl ].
    VAR_032437
    Natural varianti332 – 3321P → A in DFNA20. 1 Publication
    VAR_032438
    Natural varianti370 – 3701V → A in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation. 1 Publication
    VAR_032439
    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201T → I in BRWS2. 1 Publication
    Corresponds to variant rs281875325 [ dbSNP | Ensembl ].
    VAR_067814
    Natural varianti135 – 1351A → V in BRWS2. 1 Publication
    Corresponds to variant rs11549190 [ dbSNP | Ensembl ].
    VAR_067815
    Natural varianti155 – 1551S → F in BRWS2. 1 Publication
    Corresponds to variant rs281875326 [ dbSNP | Ensembl ].
    VAR_067816
    Natural varianti203 – 2031T → K in BRWS2. 1 Publication
    Corresponds to variant rs281875327 [ dbSNP | Ensembl ].
    VAR_067817
    Natural varianti254 – 2541R → W in BRWS2. 1 Publication
    Corresponds to variant rs281875328 [ dbSNP | Ensembl ].
    VAR_067818
    Natural varianti256 – 2561R → W in BRWS2. 1 Publication
    Corresponds to variant rs281875329 [ dbSNP | Ensembl ].
    VAR_067819

    Keywords - Diseasei

    Deafness, Disease mutation, Mental retardation, Non-syndromic deafness

    Organism-specific databases

    MIMi604717. phenotype.
    614583. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    2995. Baraitser-Winter syndrome.
    PharmGKBiPA24468.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 375375Actin, cytoplasmic 2PRO_0000367100Add
    BLAST
    Initiator methioninei1 – 11Removed; alternate4 Publications
    Chaini2 – 375374Actin, cytoplasmic 2, N-terminally processedPRO_0000000831Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei2 – 21N-acetylglutamate; in Actin, cytoplasmic 2, N-terminally processed; partial4 Publications
    Modified residuei44 – 441Methionine (R)-sulfoxideBy similarity
    Modified residuei47 – 471Methionine (R)-sulfoxideBy similarity
    Modified residuei73 – 731Tele-methylhistidine1 Publication
    Modified residuei84 – 841N6-methyllysine1 Publication

    Post-translational modificationi

    The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the mouse ortholog.
    Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization By similarity.By similarity
    Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.

    Keywords - PTMi

    Acetylation, Methylation, Oxidation

    Proteomic databases

    MaxQBiP63261.
    PRIDEiP63261.

    2D gel databases

    DOSAC-COBS-2DPAGEP60709_OR_P63261.
    P63261.
    OGPiP63261.
    REPRODUCTION-2DPAGEP63261.
    SWISS-2DPAGEP63261.

    PTM databases

    PhosphoSiteiP63261.

    Miscellaneous databases

    PMAP-CutDBP63261.

    Expressioni

    Gene expression databases

    BgeeiP63261.
    CleanExiHS_ACTB.
    HS_ACTG1.
    GenevestigatoriP63261.

    Organism-specific databases

    HPAiCAB013531.
    HPA041264.
    HPA041271.

    Interactioni

    Subunit structurei

    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.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-351292,EBI-351292
    ACTBP607093EBI-351292,EBI-353944
    CFL2Q9Y2812EBI-351292,EBI-351218
    MLH1P406927EBI-351292,EBI-744248

    Protein-protein interaction databases

    BioGridi106586. 91 interactions.
    IntActiP63261. 40 interactions.
    MINTiMINT-4998686.
    STRINGi9606.ENSP00000331514.

    Structurei

    3D structure databases

    ProteinModelPortaliP63261.
    SMRiP63261. Positions 6-375.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the actin family.Curated

    Phylogenomic databases

    HOVERGENiHBG003771.
    InParanoidiP63261.
    KOiK05692.
    OMAiDARAPIM.
    PhylomeDBiP63261.
    TreeFamiTF354237.

    Family and domain databases

    InterProiIPR004000. Actin-related.
    IPR020902. Actin/actin-like_CS.
    IPR004001. Actin_CS.
    [Graphical view]
    PANTHERiPTHR11937. PTHR11937. 1 hit.
    PfamiPF00022. Actin. 1 hit.
    [Graphical view]
    PRINTSiPR00190. ACTIN.
    SMARTiSM00268. ACTIN. 1 hit.
    [Graphical view]
    PROSITEiPS00406. ACTINS_1. 1 hit.
    PS00432. ACTINS_2. 1 hit.
    PS01132. ACTINS_ACT_LIKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P63261-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK    50
    DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE 100
    HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG 150
    IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF 200
    TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI 250
    GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS 300
    GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS 350
    TFQQMWISKQ EYDESGPSIV HRKCF 375
    Length:375
    Mass (Da):41,793
    Last modified:July 21, 1986 - v1
    Checksum:i54D08F986964EFD5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti316 – 3161E → K in AAA51580. (PubMed:3472224)Curated
    Sequence conflicti344 – 3441S → F in AAA51580. (PubMed:3472224)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti89 – 891T → I in DFNA20. 1 Publication
    Corresponds to variant rs28999111 [ dbSNP | Ensembl ].
    VAR_032434
    Natural varianti118 – 1181K → M in DFNA20. 1 Publication
    VAR_032435
    Natural varianti118 – 1181K → N in DFNA20. 1 Publication
    Corresponds to variant rs267606630 [ dbSNP | Ensembl ].
    VAR_067824
    Natural varianti120 – 1201T → I in BRWS2. 1 Publication
    Corresponds to variant rs281875325 [ dbSNP | Ensembl ].
    VAR_067814
    Natural varianti122 – 1221I → V in DFNA20. 1 Publication
    Corresponds to variant rs281875330 [ dbSNP | Ensembl ].
    VAR_067825
    Natural varianti135 – 1351A → V in BRWS2. 1 Publication
    Corresponds to variant rs11549190 [ dbSNP | Ensembl ].
    VAR_067815
    Natural varianti155 – 1551S → F in BRWS2. 1 Publication
    Corresponds to variant rs281875326 [ dbSNP | Ensembl ].
    VAR_067816
    Natural varianti160 – 1601T → I.
    Corresponds to variant rs11549206 [ dbSNP | Ensembl ].
    VAR_048186
    Natural varianti203 – 2031T → K in BRWS2. 1 Publication
    Corresponds to variant rs281875327 [ dbSNP | Ensembl ].
    VAR_067817
    Natural varianti241 – 2411E → K in DFNA20. 1 Publication
    Corresponds to variant rs267606631 [ dbSNP | Ensembl ].
    VAR_067826
    Natural varianti243 – 2431P → L.
    Corresponds to variant rs11546899 [ dbSNP | Ensembl ].
    VAR_055482
    Natural varianti254 – 2541R → W in BRWS2. 1 Publication
    Corresponds to variant rs281875328 [ dbSNP | Ensembl ].
    VAR_067818
    Natural varianti256 – 2561R → W in BRWS2. 1 Publication
    Corresponds to variant rs281875329 [ dbSNP | Ensembl ].
    VAR_067819
    Natural varianti264 – 2641P → L in DFNA20. 1 Publication
    VAR_032436
    Natural varianti278 – 2781T → I in DFNA20. 1 Publication
    Corresponds to variant rs28999112 [ dbSNP | Ensembl ].
    VAR_032437
    Natural varianti332 – 3321P → A in DFNA20. 1 Publication
    VAR_032438
    Natural varianti370 – 3701V → A in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation. 1 Publication
    VAR_032439

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11782.1.
    PIRiA28098. ATHUG.
    JC5818.
    RefSeqiNP_001186883.1. NM_001199954.1.
    NP_001605.1. NM_001614.3.
    UniGeneiHs.514581.
    Hs.713764.

    Genome annotation databases

    EnsembliENST00000331925; ENSP00000331514; ENSG00000184009.
    ENST00000573283; ENSP00000458435; ENSG00000184009.
    ENST00000575087; ENSP00000459124; ENSG00000184009.
    ENST00000575842; ENSP00000458162; ENSG00000184009.
    ENST00000576544; ENSP00000461672; ENSG00000184009.
    GeneIDi71.
    KEGGihsa:71.
    UCSCiuc002kak.2. human.

    Polymorphism databases

    DMDMi54036678.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mendelian genes actin, gamma 1 (ACTG1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS11782.1.
    PIRi A28098. ATHUG.
    JC5818.
    RefSeqi NP_001186883.1. NM_001199954.1.
    NP_001605.1. NM_001614.3.
    UniGenei Hs.514581.
    Hs.713764.

    3D structure databases

    ProteinModelPortali P63261.
    SMRi P63261. Positions 6-375.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106586. 91 interactions.
    IntActi P63261. 40 interactions.
    MINTi MINT-4998686.
    STRINGi 9606.ENSP00000331514.

    PTM databases

    PhosphoSitei P63261.

    Polymorphism databases

    DMDMi 54036678.

    2D gel databases

    DOSAC-COBS-2DPAGE P60709_OR_P63261.
    P63261.
    OGPi P63261.
    REPRODUCTION-2DPAGE P63261.
    SWISS-2DPAGE P63261.

    Proteomic databases

    MaxQBi P63261.
    PRIDEi P63261.

    Protocols and materials databases

    DNASUi 71.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331925 ; ENSP00000331514 ; ENSG00000184009 .
    ENST00000573283 ; ENSP00000458435 ; ENSG00000184009 .
    ENST00000575087 ; ENSP00000459124 ; ENSG00000184009 .
    ENST00000575842 ; ENSP00000458162 ; ENSG00000184009 .
    ENST00000576544 ; ENSP00000461672 ; ENSG00000184009 .
    GeneIDi 71.
    KEGGi hsa:71.
    UCSCi uc002kak.2. human.

    Organism-specific databases

    CTDi 71.
    GeneCardsi GC17M079476.
    GeneReviewsi ACTG1.
    H-InvDB HIX0001479.
    HIX0199868.
    HGNCi HGNC:144. ACTG1.
    HPAi CAB013531.
    HPA041264.
    HPA041271.
    MIMi 102560. gene.
    604717. phenotype.
    614583. phenotype.
    neXtProti NX_P63261.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    2995. Baraitser-Winter syndrome.
    PharmGKBi PA24468.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG003771.
    InParanoidi P63261.
    KOi K05692.
    OMAi DARAPIM.
    PhylomeDBi P63261.
    TreeFami TF354237.

    Enzyme and pathway databases

    Reactomei REACT_11035. Gap junction degradation.
    REACT_11049. Formation of annular gap junctions.
    REACT_147867. Translocation of GLUT4 to the plasma membrane.
    REACT_160086. Regulation of actin dynamics for phagocytic cup formation.
    REACT_19195. Adherens junctions interactions.
    REACT_20649. Cell-extracellular matrix interactions.
    REACT_22266. Interaction between L1 and Ankyrins.
    REACT_22365. Recycling pathway of L1.
    SignaLinki P63261.

    Miscellaneous databases

    ChiTaRSi ACTG1. human.
    GeneWikii ACTG1.
    GenomeRNAii 71.
    NextBioi 279.
    PMAP-CutDB P63261.
    PROi P63261.
    SOURCEi Search...

    Gene expression databases

    Bgeei P63261.
    CleanExi HS_ACTB.
    HS_ACTG1.
    Genevestigatori P63261.

    Family and domain databases

    InterProi IPR004000. Actin-related.
    IPR020902. Actin/actin-like_CS.
    IPR004001. Actin_CS.
    [Graphical view ]
    PANTHERi PTHR11937. PTHR11937. 1 hit.
    Pfami PF00022. Actin. 1 hit.
    [Graphical view ]
    PRINTSi PR00190. ACTIN.
    SMARTi SM00268. ACTIN. 1 hit.
    [Graphical view ]
    PROSITEi PS00406. ACTINS_1. 1 hit.
    PS00432. ACTINS_2. 1 hit.
    PS01132. ACTINS_ACT_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    8. 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, IDENTIFICATION BY 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, IDENTIFICATION BY 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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 144-375.
    11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT GLU-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1 AND GLU-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: METHYLATION AT LYS-84, DEMETHYLATION BY ALKBH4.
    14. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNA20 ILE-89; MET-118; LEU-264 AND ALA-332.
    15. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA20 ILE-278.
    16. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA20 ALA-370, CHARACTERIZATION OF VARIANT DFNA20 ALA-370.
    17. "Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family."
      Liu P., Li H., Ren X., Mao H., Zhu Q., Zhu Z., Yang R., Yuan W., Liu J., Wang Q., Liu M.
      J. Genet. Genomics 35:553-558(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA20 VAL-122.
    18. "In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment."
      Morin M., Bryan K.E., Mayo-Merino F., Goodyear R., Mencia A., Modamio-Hoybjor S., del Castillo I., Cabalka J.M., Richardson G., Moreno F., Rubenstein P.A., Moreno-Pelayo M.A.
      Hum. Mol. Genet. 18:3075-3089(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNA20 ASN-118 AND LYS-241.
    19. Cited for: VARIANTS BRWS2 ILE-120; VAL-135; PHE-155; LYS-203; TRP-254 AND TRP-256.

    Entry informationi

    Entry nameiACTG_HUMAN
    AccessioniPrimary (citable) accession number: P63261
    Secondary accession number(s): A8K7C2
    , P02571, P14104, P99022, Q5U032, Q96E67
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: July 21, 1986
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    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.

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3