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    ACTA1 actin, alpha 1, skeletal muscle [ Homo sapiens ]

    Gene ID: 58, updated on 11-May-2012

    Summary

    Official Symbol
    ACTA1provided by HGNC
    Official Full Name
    actin, alpha 1, skeletal muscleprovided by HGNC
    Primary source
    HGNC:129
    Locus tag
    RP5-1068B5.2
    See related
    Ensembl:ENSG00000143632; HPRD:00030; MIM:102610; Vega:OTTHUMG00000038006
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; CFTD1; CFTDM
    Summary
    The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    1q42.13
    Sequence :
    Chromosome: 1; NC_000001.10 (229566992..229569843, complement)
    See ACTA1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene RAB4A, member RAS oncogene family Neighboring gene S-phase response (cyclin related) Neighboring gene chromosome 1 open reading frame 96 Neighboring gene nucleoporin 133kDa Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 10

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed
    Tat tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
    tat HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains PubMed
    matrix gag The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed
    retropepsin gag-pol Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes PubMed
    gag-pol HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127 PubMed
    reverse transcriptase gag-pol The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001091.1     BIND  PubMed Actin interacts with Arp2/3 complex. This interaction was modeled on a demonstrated interaction between rabbit actin and human Arp2/3 complex. 
    P68133 P00519 ABL1    HPRD  PubMed  
    P68133 P68133 ACTA1    HPRD  PubMed  
    P68133 Q9NZ32 ACTR10    HPRD  PubMed  
    P68133 P42025 ACTR1B    HPRD  PubMed  
    P68133 P30520 ADSS    HPRD  PubMed  
    P68133 Actin filament associated protein AFAP1    HPRD  PubMed  
    P68133 P55008 AIF1    HPRD  PubMed  
    P68133 Ajuba AJUBA    HPRD  PubMed  
    P68133 Q13939 CCIN    HPRD  PubMed  
    P68133 P50991 CCT4    HPRD  PubMed  
    P68133 P48643 CCT5    HPRD  PubMed  
    P68133 P23528 CFL1    HPRD  PubMed  
    P68133 Q9NZA1 CLIC5    HPRD  PubMed  
    P68133 P51911 CNN1    HPRD  PubMed  
    P68133 Q9UQ03 CORO2B    HPRD  PubMed  
    P68133 Q14019 COTL1    HPRD  PubMed  
    P68133 O60716 CTNND1    HPRD  PubMed  
    P68133 Q14247 CTTN    HPRD  PubMed  
    P68133 Q7L576 CYFIP1    HPRD  PubMed  
    P68133 Q15438 CYTH1    HPRD  PubMed  
    P68133 Q12959 DLG1    HPRD  PubMed  
    P68133 P11532 DMD    HPRD  PubMed  
    P68133 P24855 DNASE1    HPRD  PubMed  
    P68133 Q6XZF7 DNMBP    HPRD  PubMed  
    P68133 Q9Y4J8 DTNA    HPRD  PubMed  
    P68133 P00533 EGFR    HPRD  PubMed  
    P68133 P11171 EPB41    HPRD  PubMed  
    P68133 O43491 EPB41L2    HPRD  PubMed  
    P68133 Q12929 EPS8    HPRD  PubMed  
    P68133 Q96M96 FGD4    HPRD  PubMed  
    P68133 Q9Y613 FHOD1    HPRD  PubMed  
    P68133 Q16658 FSCN1    HPRD  PubMed  
    P68133 O43903 GAS2    HPRD  PubMed  
    P68133 O60861 GAS7    HPRD  PubMed  
    P68133 P02774 GC    HPRD  PubMed  
    P68133 P06396 GSN    HPRD  PubMed  
    P68133 P14317 HCLS1    HPRD  PubMed  
    P68133 O75146 HIP1R    HPRD  PubMed  
    P68133 P46940 IQGAP1    HPRD  PubMed  
    P68133 P17301 ITGA2    HPRD  PubMed  
    P68133 P23677 ITPKA    HPRD  PubMed  
    P68133 Q02241 KIF23    HPRD  PubMed  
    P68133 Q9Y2M5 KLHL20    HPRD  PubMed  
    P68133 Q14847 LASP1    HPRD  PubMed  
    P68133 Q96PK2 MACF1    HPRD  PubMed  
    P68133 P78559 MAP1A    HPRD  PubMed  
    P68133 Q9UNW1 MINPP1    HPRD  PubMed  
    P68133 P05976 MYL1    HPRD  PubMed  
    P68133 Q15746 MYLK    HPRD  PubMed  
    P68133 Q9HD67 MYO10    HPRD  PubMed  
    P68133 Q9UM54 MYO6    HPRD  PubMed  
    P68133 Q13402 MYO7A    HPRD  PubMed  
    P68133 Q13459 MYO9B    HPRD  PubMed  
    P68133 Nexilin NEXN    HPRD  PubMed  
    P68133 P08235 NR3C2    HPRD  PubMed  
    P68133 Q16625 OCLN    HPRD  PubMed  
    P68133 Q13153 PAK1    HPRD  PubMed  
    P68133 Q9NVD7 PARVA    HPRD  PubMed  
    P68133 Q9Y5K3 PCYT1B    HPRD  PubMed  
    P68133 P07737 PFN1    HPRD  PubMed  
    P68133 Q9C0D0 PHACTR1    HPRD  PubMed  
    P68133 Q13393 PLD1    HPRD  PubMed  
    P68133 P17252 PRKCA    HPRD  PubMed  
    P68133 Q05655 PRKCD    HPRD  PubMed  
    P68133 Q02156 PRKCE    HPRD  PubMed  
    P68133 P63000 RAC1    HPRD  PubMed  
    P68133 P23297 S100A1    HPRD  PubMed  
    P68133 P26447 S100A4    HPRD  PubMed  
    P68133 Q9BX66 SORBS1    HPRD  PubMed  
    P68133 P35321 SPRR1A    HPRD  PubMed  
    P68133 P02549 SPTA1    HPRD  PubMed  
    P68133 Q13813 SPTAN1    HPRD  PubMed  
    P68133 O15020 SPTBN2    HPRD  PubMed  
    P68133 Q01995 TAGLN    HPRD  PubMed  
    P68133 Q07157 TJP1    HPRD  PubMed  
    P68133 Q9Y490 TLN1    HPRD  PubMed  
    P68133 P62328 TMSB4X    HPRD  PubMed  
    P68133 P19237 TNNI1    HPRD  PubMed  
    P68133 P19429 TNNI3    HPRD  PubMed  
    P68133 Q59H18 TNNI3K    HPRD  PubMed  
    P68133 P04637 TP53    HPRD  PubMed  
    P68133 P06753 TPM3    HPRD  PubMed  
    P68133 Q13114 TRAF3    HPRD  PubMed  
    P68133 Q8WZ42 TTN    HPRD  PubMed  
    P68133 Q92738 USP6NL    HPRD  PubMed  
    P68133 P46939 UTRN    HPRD  PubMed  
    P68133 P50552 VASP    HPRD  PubMed  
    P68133 P15498 VAV1    HPRD  PubMed  
    P68133 P18206 VCL    HPRD  PubMed  
    P68133 P09327 VIL1    HPRD  PubMed  
    P68133 Cardiomyopathy associated 1 XIRP1    HPRD  PubMed  
    BioGRID:106573 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:115585 APC2    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:67803 Apc2    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:120548 C20orf20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115826 CCT4    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:116603 CCT5    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:107435 CDH2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:107499 CFL1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:106573 BioGRID:107664 CNN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:116979 COTL1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:107836 CSNK1A1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:121123 CTNNBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:108025 DHX9    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:106573 BioGRID:121004 DMAP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:108096 DMD    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:108112 DNASE1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:116869 DNMBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:113851 DVL1L1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:23872 ERD10    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:108421 ETV6    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:112508 FSCN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:108908 GC    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:109189 GSN    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115106 HDAC4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:120968 HDAC8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:115779 KAT5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:118100 KLHL20    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:121760 MARK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:126769 MIB2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106573 BioGRID:122531 MLPH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:116134 MORF4L1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115001 MORF4L2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:113841 NCOA3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:110951 NRAP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:114854 PCYT1B    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106573 BioGRID:111223 PFDN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:128746 PHACTR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:111456 POU5F1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:106573 BioGRID:111493 PPP1CA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:124202 PPP1R9B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:111567 PRKCE    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106573 BioGRID:112112 RPS6KB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:124552 SCIN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:112482 SMARCB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:112486 SMARCD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:112587 SPTAN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:112739 TAGLN    BioGRID  PubMed Co-fractionation 
    BioGRID:106573 BioGRID:117572 TES    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:112969 TMSB4X    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:114543 TMSB4Y    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:119276 TNNI3K    BioGRID  PubMed Two-hybrid 
    BioGRID:106573 BioGRID:113022 TPM2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:113056 TRIP6    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:113099 TSC1    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:113185 UBE3A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:118895 USP25    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106573 BioGRID:113272 VIM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:116821 XPO6    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    myosin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to steroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle fiber adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    actin, alpha skeletal muscle
    Names
    actin, alpha skeletal muscle
    alpha-actin-1
    alpha skeletal muscle actin

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_006672.1 RefSeqGene

      Range
      5001..7852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001100.3NP_001091.1  actin, alpha skeletal muscle

      Status: REVIEWED

      Source sequence(s)
      AL598491, BC012597, BX648545
      Consensus CDS
      CCDS1578.1
      UniProtKB/Swiss-Prot
      P68133
      Related
      ENSP00000355645, OTTHUMP00000036123, ENST00000366684, OTTHUMT00000092781
      Conserved Domains (2) summary
      cd00012
      Location:9375
      Blast Score: 1495
      ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...
      pfam00022
      Location:5377
      Blast Score: 1723
      Actin; Actin

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      229566992..229569843, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      200057954..200060804, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF182035.1 AAF02694.1
    genomic AL160004.18 CAI19050.1
      CAI19051.1
      CAI19052.1
    genomic CH471098.1 EAW69898.1
    genomic M20543.1 AAA60296.1
    mRNA AK096902.1 BAG53395.1
    mRNA AK300697.1 BAH13327.1
    mRNA AL598491.1 None
    mRNA AY280960.1 AAP37280.1
    mRNA BC012597.1 AAH12597.1
    mRNA BX648545.1 None
    mRNA CR536516.1 CAG38754.1
    mRNA CR541796.1 CAG46595.1
    mRNA J00068.1 AAB59376.1
    other-genetic DQ892949.2 ABM83875.1
    other-genetic DQ896197.2 ABM87196.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P68133.1 GenPept UniProtKB/Swiss-Prot:P68133
    Q7Z7J6 GenPept UniProtKB/TrEMBL:Q7Z7J6

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