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    ACTA1 actin, alpha 1, skeletal muscle [ Homo sapiens (human) ]

    Gene ID: 58, updated on 9-Jun-2013
    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]
    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 centriole, cilia and spindle-associated protein Neighboring gene nucleoporin 133kDa Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 10

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A periodic pattern of evolutionarily conserved basic and acidic residues constitutes the binding interface of actin-tropomyosin. Barua B, et al. J Biol Chem, 2013 Apr 5. PMID 23420843.
    2. SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. Xu Y, et al. Cell Rep, 2012 Dec 27. PMID 23246001.
    3. Targeting β-tubulin:CCT-β complexes incurs Hsp90- and VCP-related protein degradation and induces ER stress-associated apoptosis by triggering capacitative Ca(2+) entry, mitochondrial perturbation and caspase overactivation. Lin YF, et al. Cell Death Dis, 2012 Nov 29. PMID 23190606.
    4. Gonadotropin-releasing hormone receptor activates GTPase RhoA and inhibits cell invasion in the breast cancer cell line MDA-MB-231. Aguilar-Rojas A, et al. BMC Cancer, 2012 Nov 23. PMID 23176180.
    5. Association of connexin43 with E3 ubiquitin ligase TRIM21 reveals a mechanism for gap junction phosphodegron control. Chen VC, et al. J Proteome Res, 2012 Dec 7. PMID 23106098.

    See all (295) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. analysis of the pattern of of evolutionarily conserved basic and acidic residues that constitutes the binding interface of actin-tropomyosin
      Title: A periodic pattern of evolutionarily conserved basic and acidic residues constitutes the binding interface of actin-tropomyosin.
    2. Data show that GnRHR activation affected several cellular markers of locomotion, including actin organization and polymerization as well as active RhoA-GTP levels.
      Title: Gonadotropin-releasing hormone receptor activates GTPase RhoA and inhibits cell invasion in the breast cancer cell line MDA-MB-231.
    3. Data indicate that actin nucleation on Chlamydia inclusions exhibited moderate depolymerization dynamics.
      Title: Actin recruitment to the Chlamydia inclusion is spatiotemporally regulated by a mechanism that requires host and bacterial factors.
    4. The organization of actin and cytokeratin cytoskeleton and the expression of TCTP, p53,cyclin A, RhoA and actin in HIO180 non-transformed ovarian epithelial cells, and OVCAR3 and SKOV3 ovarian epithelial cancer cells, was studied.
      Title: Inverse relationship between TCTP/RhoA and p53 /cyclin A/actin expression in ovarian cancer cells.
    5. Data show that the urinary messenger RNA (mRNA) levels of alpha-smooth muscle actin (alpha-SMA), fibronectin, and matrix metalloproteinase-9 (MMP-9) were significantly higher in the diabetic nephropathy (DN) group, and mRNA levels increased with DN progression.
      Title: Urinary mRNA markers of epithelial-mesenchymal transition correlate with progression of diabetic nephropathy.
    6. High alpha-actin is associated with colorectal carcinogenesis.
      Title: Increase of α-SMA(+) and CK (+) cells as an early sign of epithelial-mesenchymal transition during colorectal carcinogenesis.
    7. Over-expression of Nkx2.5 and/or cardiac alpha-actin inhibit the contraction ability of adipose tissue-derived stromal cells-derived cardiomyocytes.
      Title: Over-expression of Nkx2.5 and/or cardiac α-actin inhibit the contraction ability of ADSCs-derived cardiomyocytes.
    8. Platelets gal-1 forms an intracellular complex with monomeric actin.
      Title: Isolation of galectin-1 from human platelets: its interaction with actin.
    9. Herpesviruses exploit actin and actin-associated myosin motors for viral entry and virion egress. [review]
      Title: Actin in herpesvirus infection.
    10. CK2 regulates vaccinia virus dissemination and actin tail formation.
      Title: Casein kinase 2 regulates vaccinia virus actin tail formation.
    Submit: New GeneRIF Correction See all (53)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Congenital myopathy with fiber type disproportion

    Summary from GeneReviews: Congenital Fiber-Type Disproportion Go to GeneReviews

    Disease Characteristics
    Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some individuals remain non-ambulatory throughout life, many eventually develop the ability to walk. In more than 90% of affected individuals, muscle weakness is static or improves; in the remainder it is usually slowly progressive. Mild-to-severe respiratory involvement is seen in approximately 30% of affected individuals; respiratory failure may occur at any age. Ophthalmoplegia, ptosis, and facial and/or bulbar weakness with severe limb/respiratory weakness may predict a poor prognosis. Mild-to-severe feeding difficulties occur in nearly 30% of children. Contractures of the hips, knees, ankles, elbows, and fingers occur in approximately 25% and may be present at birth or occur in older persons with decreased mobility secondary to severe weakness. Spinal deformities including scoliosis, kyphoscoliosis, and lordosis are seen in 25% or more of individuals.
    Diagnosis Testing
    Diagnosis is based on a combination of clinical presentation and morphologic features observed on skeletal muscle histology. The pathologic and clinical manifestations of CFTD overlap with other neuromuscular and non-neuromuscular diseases that must be ruled out prior to making a diagnosis of CFTD. To date, mutations have been identified in six genes: ACTA1 (~6% of individuals with CFTD), MYH7 (unknown), RYR1 (~10%-20%), SEPN1 (rare), TPM2 (rare) and TPM3 (~20%-25% of individuals with CFTD).
    Genetic Counseling
    CFTD is a genetically heterogeneous condition that can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner. To date, all identified cases of ACTA1, MYH7, and TPM2-related CFTD have been caused by autosomal dominant mutations while the SEPN1 and RYR1-related cases have been associated with autosomal recessive mutations. TPM3-related CFTD can be inherited in an autosomal dominant or autosomal recessive manner. ACTA1 and TPM3 mutations are often de novo dominant. A large portion of individuals with CFTD represent simplex cases (i.e., a single occurrence in a family). It can be difficult to determine inheritance pattern in the family of a simplex case when a disease-causing mutation is not identified through testing of known genes. Prenatal testing for pregnancies at risk for CFTD is possible if the disease-causing mutation(s) in a family are known.
    References

    Nemaline myopathy 3

    Summary from GeneReviews: Nemaline Myopathy Go to GeneReviews

    Disease Characteristics
    Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Six forms of NM exist, classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%) . Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. Significant differences in survival exist between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk.
    Diagnosis Testing
    Diagnosis is based on clinical findings and the observation of characteristic rod-shaped structures (nemaline bodies) on muscle biopsy stained with Gomori trichrome. Disease-causing mutations have been identified in seven different genes, all of which encode protein components of the muscle thin filament.
    Genetic Counseling
    NM is inherited in an autosomal dominant or autosomal recessive manner. In one series, approximately 20% of cases were autosomal recessive, approximately 30% autosomal dominant, and approximately 50% simplex (i.e., single occurrences in a family) representing heterozygosity for de novo dominant mutations or homozygosity for autosomal recessive mutations. Accurate recurrence risk information requires determination of the mode of inheritance, if possible, through pedigree analysis and a combination of clinical evaluation, molecular genetic testing, and muscle biopsy of the parents. Carrier testing for at-risk relatives in families with autosomal recessive NM is possible if the disease-causing mutations in the family are known. Prenatal molecular genetic testing is possible for pregnancies at increased risk for NM if the disease-causing mutation(s) in the family are known.
    References
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
    Envelope surface glycoprotein gp120 env NHERF1 is required for HIV-1 gp120-induced actin rearrangement PubMed
    env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
    env Inducible T-cell kinase (ITK) affects viral entry and gp120-induced actin reorganization PubMed
    env HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization PubMed
    env Lck phosphorylates CD3zeta and the TCR-CD3 complex is recruited to a virological synapse (VS) when cells interact with gp120+ICAM-1 bilayers, leading to creation of an F-actin-depleted zone PubMed
    Envelope transmembrane glycoprotein gp41 env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
    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
    Gag, Pr55 gag Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
    gag HIV-1 Gag assembly and budding occur through an actin-driven mechanism PubMed
    Nef, p27 nef HIV-1 Nef induces loss of F-actin assembly and inhibits retinoid receptor-mediated transcription PubMed
    nef The HIV-1 Nef highly conserved valine-glycine-phenylalanine amino acid triplet (VGF) motif is essential for effects of Nef on actin dynamics and Lck localization PubMed
    nef HIV-1 Nef requires a PAK2 recruitment motif (F195/191I) for inhibition of actin remodeling and induction of cofilin hyperphosphorylation PubMed
    nef HIV-1 Nef disrupts F-actin at the cortical actin ring in both insulin-unstimulated and stimulated adipocytes PubMed
    Tat, p14 tat Uptake of the HIV-1 Tat protein is regulated by arrangement of the actin cytoskeleton in epithelial cells PubMed
    tat Endothelial cell adherent to HIV-1 Tat induces rearrangement of actin cytoskeleton and is dependent on integrin a(v)(3) PubMed
    tat Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    tat Signaling from multivalent TatP facilitates the frequent and constitutive recruitment of TatR to actin-associated membrane lipid-rafts PubMed
    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 HIV-1 MA colocalizes with 2 integrin CD18, aM and aX integrins (CD11b and CD11c) in the intracellular thick electron-dense membrane compartments, which contain talin, vinculin and paxillin that connect the integrin complexes to the actin cytoskeleton PubMed
    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
    pol 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
    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

    Go to the HIV-1, Human Protein Interaction Database

    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:124086 ABLIM2    BioGRID  PubMed Co-purification 
    BioGRID:106573 BioGRID:116552 ABLIM3    BioGRID  PubMed Co-purification 
    BioGRID:106573 BioGRID:126483 ABRA    BioGRID  PubMed Two-hybrid 
    BioGRID:106573 BioGRID:131362 ACTBL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:106586 ACTG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:115585 APC2    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:106901 ARRB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:67803 Apc2    BioGRID  PubMed Co-localization 
    BioGRID:106573 BioGRID:120947 BRK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:107160 BTK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115827 CCT2    BioGRID  PubMed Reconstituted Complex 
    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:107452 CDK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:107463 CDKN2A    BioGRID  PubMed Affinity Capture-MS 
    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:114032 CUL1    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 DVL1P1    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:108403 ESR1    BioGRID  PubMed Affinity Capture-MS 
    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:108964 GJA1    BioGRID  PubMed Affinity Capture-MS 
    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:118165 HTRA2    BioGRID  PubMed Biochemical Activity; Protein-peptide 
    BioGRID:106573 BioGRID:114995 ISG15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115779 KAT5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:118100 KLHL20    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:110149 LGALS3    BioGRID  PubMed Affinity Capture-MS 
    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:120548 MRGBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:116003 NCKAP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:113841 NCOA3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:114561 NMI    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:110951 NRAP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-MS 
    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:123926 POLR1B    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:117604 PTPN22    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:111902 RELA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:112112 RPS6KB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:120102 RRN3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:124552 SCIN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:112482 SMARCB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:112486 SMARCD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:112506 SNCA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106573 BioGRID:112587 SPTAN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106573 BioGRID:112739 TAGLN    BioGRID  PubMed Co-fractionation 
    BioGRID:106573 BioGRID:112810 TCP1    BioGRID  PubMed Affinity Capture-Western 
    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:117577 TRAF3IP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:124195 TRIM63    BioGRID  PubMed Biochemical Activity; Co-fractionation; 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; Affinity Capture-Western 
    BioGRID:106573 BioGRID:113185 UBE3A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:113885 UBL4A    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 
    BioGRID:106573 BioGRID:113366 YWHAZ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106573 BioGRID:1205537 gag    BioGRID  PubMed Affinity Capture-Western 

    Markers

    Genotypes

    Homology

    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 
    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 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    extracellular vesicular exosome IDA
    Inferred from Direct Assay
    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 
    Preferred Names
    actin, alpha skeletal muscle
    Names
    actin, alpha skeletal muscle
    nemaline myopathy type 3

    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_001100.3 → NP_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
      pfam00022
      Location:5 – 377
      Blast Score: 1723
      Actin; Actin
      cd00012
      Location:10 – 183
      Blast Score: 195
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 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)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      236359912..236362854, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01009822.1 (8027..10877) None
    genomic AF182035.1 AAF02694.1
    genomic AL160004.18 (52502..55353) None
    genomic AMYH01001809.1 (88414..89665) None
    genomic AMYH01001810.1 None
    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

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

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