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    ACTN1 actinin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 87, updated on 5-May-2024

    Summary

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    Official Symbol
    ACTN1provided by HGNC
    Official Full Name
    actinin alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:163
    See related
    Ensembl:ENSG00000072110 MIM:102575; AllianceGenome:HGNC:163
    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
    BDPLT15
    Summary
    Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 77.5), urinary bladder (RPKM 66.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q24.1; 14q22-q24
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (68874128..68979302, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63083135..63188360, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69340845..69446019, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mago homolog 3, pseudogene Neighboring gene basic leucine zipper nuclear factor 2, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69357231-69357731 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69387590-69388164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69390697-69391234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69391235-69391770 Neighboring gene NANOG hESC enhancer GRCh37_chr14:69400001-69400511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69401885-69402386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69402387-69402886 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69405059-69405892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69405893-69406726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69408246-69409036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69409037-69409826 Neighboring gene BANF1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69414806-69415354 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:69417212-69418411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69418945-69419802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69421427-69422153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69422154-69422879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69428631-69429326 Neighboring gene uncharacterized LOC124903336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69434488-69435326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69439113-69440068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69440086-69440586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69444887-69445886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69445887-69446885 Neighboring gene ACTN1 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:69471586-69472785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69480951-69481913 Neighboring gene ribosomal protein S29 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests. Kim J, et al. Analyst, 2021 Nov 8. PMID 34642716
    2. α-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3β/β-Catenin pathway. Zhang S, et al. Bioengineered, 2021 Dec. PMID 34546849, Free PMC Article
    3. ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma. Chen Q, et al. J Exp Clin Cancer Res, 2021 Jan 7. PMID 33413564, Free PMC Article
    4. High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses Cell Proliferation and Metastasis in Oral Squamous Cell Carcinoma. Xie GF, et al. Drug Des Devel Ther, 2020. PMID 32440097, Free PMC Article
    5. Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia. O'Sullivan LR, et al. FEBS Lett, 2020 Jan. PMID 31365757

    See all (310) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2.
      Title: Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2.
    2. alpha-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3beta/beta-Catenin pathway.
      Title: α-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3β/β-Catenin pathway.
    3. Distinct forms of the actin cross-linking protein alpha-actinin support macropinosome internalization and trafficking.
      Title: Distinct forms of the actin cross-linking protein α-actinin support macropinosome internalization and trafficking.
    4. Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests.
      Title: Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests.
    5. ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma.
      Title: ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma.
    6. High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses Cell Proliferation and Metastasis in Oral Squamous Cell Carcinoma.
      Title: High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses Cell Proliferation and Metastasis in Oral Squamous Cell Carcinoma.
    7. The G764S and E769K mutations increase cytoskeletal association of actinin in cells, and all mutant proteins colocalize with F-actin in cultured HeLa cells.
      Title: Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia.
    8. Report identifies 11 new variants in ACTN1 gene providing significant insight into the mechanisms of ACTN1-related thrombocytopenia (ACTN1-RT) and highlights the high frequency of congenital ACTN1 variants as a cause of inherited thrombocytopenia. The rod domain in ACTN1 may harbor variants resulting in actin disorganization in vitro and thrombocytopenia with normal platelet size in most cases.
      Title: Novel ACTN1 variants in cases of thrombocytopenia.
    9. Hematopoietic cell-specific Lyn substrate, HCLS1, is a versatile actin-binding protein in leukocytes. (Review)
      Title: Hematopoietic cell-specific lyn substrate (HCLS1 or HS1): A versatile actin-binding protein in leukocytes.
    10. The expression of fascin-1 and actinin-4 is connected with the degree of pancreatic intraepithelial neoplasia (PanIN) Advancement and depends on the type of the primary disease. Overexpression of these proteins may be linked to cytological and architectural abnormalities observed in advanced PanIN.
      Title: Actin-Bundling Proteins (Actinin-4 and Fascin-1) are Involved in the Development of Pancreatic Intraepithelial Neoplasia (PanIN).
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Platelet-type bleeding disorder 15
    MedGen: C3554663 OMIM: 615193 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide and candidate gene association study of cigarette smoking behaviors.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates ACTN1 in HeLa cells within 12 hours of exposure PubMed
    retropepsin gag-pol Alpha-actinin is cleaved in vitro by HIV-1 protease at amino acid residues 166-167 and 471-472 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40884, FLJ54432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables vinculin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables vinculin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin filament network formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in platelet activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in pseudopodium TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-actinin-1
    Names
    F-actin cross-linking protein
    actinin 1 smooth muscle
    epididymis secretory sperm binding protein
    non-muscle alpha-actinin-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_029480.1 RefSeqGene

      Range
      5001..110244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_886

    mRNA and Protein(s)

    1. NM_001102.4 → NP_001093.1  alpha-actinin-1 isoform b

      See identical proteins and their annotated locations for NP_001093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC003576, BC004984, BI494856, DC321454
      Consensus CDS
      CCDS9792.1
      UniProtKB/Swiss-Prot
      B3V8S3, B4DHH3, B7TY16, P12814, Q1HE25, Q9BTN1
      UniProtKB/TrEMBL
      A0A024R694, A0A804HK61
      Related
      ENSP00000193403.6, ENST00000193403.10
      Conserved Domains (6) summary
      cd00051
      Location:750 → 817
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:395 → 622
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:634 → 733
      Spectrin; Spectrin repeat
      pfam08726
      Location:822 → 888
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28 → 132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136 → 250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

    2. NM_001130004.2 → NP_001123476.1  alpha-actinin-1 isoform a

      See identical proteins and their annotated locations for NP_001123476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC004984, BI494856, DC372566, DQ496098
      Consensus CDS
      CCDS45130.1
      UniProtKB/TrEMBL
      A0A804HII9
      Related
      ENSP00000377941.4, ENST00000394419.9
      Conserved Domains (6) summary
      cd00051
      Location:750 → 839
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:395 → 622
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:634 → 733
      Spectrin; Spectrin repeat
      pfam08726
      Location:844 → 910
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28 → 132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136 → 250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

    3. NM_001130005.2 → NP_001123477.1  alpha-actinin-1 isoform c

      See identical proteins and their annotated locations for NP_001123477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC003576, BC004984, BI494856, DC321454, EU716325
      Consensus CDS
      CCDS45129.1
      UniProtKB/TrEMBL
      A0A804HK61
      Related
      ENSP00000414272.2, ENST00000438964.6
      Conserved Domains (6) summary
      COG5126
      Location:743 → 847
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00176
      Location:395 → 622
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:634 → 733
      Spectrin; Spectrin repeat
      pfam08726
      Location:817 → 883
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      cd21214
      Location:28 → 132
      CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family
      cd21216
      Location:136 → 250
      CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

    4. NM_001411035.1 → NP_001397964.1  alpha-actinin-1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL117694
      Consensus CDS
      CCDS91891.1
      UniProtKB/TrEMBL
      A0A7I2V4Y4
      Related
      ENSP00000504355.1, ENST00000679147.1

    5. NM_001411036.1 → NP_001397965.1  alpha-actinin-1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL117694
      Consensus CDS
      CCDS91890.1
      UniProtKB/TrEMBL
      A0A804HL31
      Related
      ENSP00000508177.1, ENST00000684182.1

    6. NM_001424012.1 → NP_001410941.1  alpha-actinin-1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL117694
      Related
      ENSP00000508301.1, ENST00000683342.1

    7. NM_001424013.1 → NP_001410942.1  alpha-actinin-1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL117694

    8. NM_001424014.1 → NP_001410943.1  alpha-actinin-1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL117694
      Related
      ENSP00000439828.2, ENST00000538545.6

    9. NM_001424015.1 → NP_001410944.1  alpha-actinin-1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL117694

    10. NM_001424016.1 → NP_001410945.1  alpha-actinin-1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL117694

    11. NM_001424017.1 → NP_001410946.1  alpha-actinin-1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL117694

    12. NM_001424018.1 → NP_001410947.1  alpha-actinin-1 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL117694

    13. NM_001424019.1 → NP_001410948.1  alpha-actinin-1 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL117694

    14. NM_001424020.1 → NP_001410949.1  alpha-actinin-1 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL117694
      Related
      ENST00000682522.1

    15. NM_001424021.1 → NP_001410950.1  alpha-actinin-1 isoform o

      Status: REVIEWED

      Source sequence(s)
      AL117694

    16. NM_001424022.1 → NP_001410951.1  alpha-actinin-1 isoform p

      Status: REVIEWED

      Source sequence(s)
      AL117694

    17. NM_001424023.1 → NP_001410952.1  alpha-actinin-1 isoform q

      Status: REVIEWED

      Source sequence(s)
      AL117694

    18. NM_001424024.1 → NP_001410953.1  alpha-actinin-1 isoform r

      Status: REVIEWED

      Source sequence(s)
      AL117694

    19. NM_001424025.1 → NP_001410954.1  alpha-actinin-1 isoform s

      Status: REVIEWED

      Source sequence(s)
      AL117694

    20. NM_001424026.1 → NP_001410955.1  alpha-actinin-1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL117694
      UniProtKB/TrEMBL
      A0A804HL31

    21. NM_001424027.1 → NP_001410956.1  alpha-actinin-1 isoform t

      Status: REVIEWED

      Source sequence(s)
      AL117694
      UniProtKB/TrEMBL
      A0A804HLF4
      Related
      ENSP00000508329.1, ENST00000682331.1

    22. NM_001424028.1 → NP_001410957.1  alpha-actinin-1 isoform u

      Status: REVIEWED

      Source sequence(s)
      AL117694
      UniProtKB/TrEMBL
      H9KV75
      Related
      ENSP00000366035.3, ENST00000376839.7

    23. NM_001424029.1 → NP_001410958.1  alpha-actinin-1 isoform v

      Status: REVIEWED

      Source sequence(s)
      AL117694

    24. NM_001424030.1 → NP_001410959.1  alpha-actinin-1 isoform w

      Status: REVIEWED

      Source sequence(s)
      AL117694

    RNA

    1. NR_190048.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      CP068264

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      68874128..68979302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021723.3 → XP_016877212.1  alpha-actinin-1 isoform X4

      UniProtKB/TrEMBL
      A0A804HII9
      Related
      ENST00000684146.1

    2. XM_017021722.3 → XP_016877211.1  alpha-actinin-1 isoform X3

      UniProtKB/TrEMBL
      A0A804HKE2

    3. XM_017021726.3 → XP_016877215.1  alpha-actinin-1 isoform X6

      UniProtKB/TrEMBL
      A0A804HII9

    4. XM_017021725.2 → XP_016877214.1  alpha-actinin-1 isoform X5

      UniProtKB/TrEMBL
      A0A804HKE2

    5. XM_047431830.1 → XP_047287786.1  alpha-actinin-1 isoform X8

    6. XM_047431829.1 → XP_047287785.1  alpha-actinin-1 isoform X7

    7. XM_047431832.1 → XP_047287788.1  alpha-actinin-1 isoform X7

    8. XM_017021720.2 → XP_016877209.1  alpha-actinin-1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKE2

    9. XM_011537268.3 → XP_011535570.1  alpha-actinin-1 isoform X12

      UniProtKB/TrEMBL
      A0A804HK61
      Conserved Domains (7) summary
      smart00033
      Location:64 → 162
      CH; Calponin homology domain
      cd00014
      Location:174 → 278
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:779 → 841
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:424 → 651
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:663 → 762
      Spectrin; Spectrin repeat
      pfam08726
      Location:846 → 912
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:781 → 840
      EF-hand_7; EF-hand domain pair

    10. XM_017021721.3 → XP_016877210.1  alpha-actinin-1 isoform X2

      UniProtKB/TrEMBL
      A0A804HII9

    11. XM_011537266.3 → XP_011535568.1  alpha-actinin-1 isoform X10

      UniProtKB/TrEMBL
      A0A804HK61
      Conserved Domains (7) summary
      smart00033
      Location:64 → 162
      CH; Calponin homology domain
      cd00014
      Location:174 → 278
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:787 → 849
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:424 → 659
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:303 → 413
      Spectrin; Spectrin repeat
      pfam08726
      Location:854 → 920
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:789 → 848
      EF-hand_7; EF-hand domain pair

    12. XM_011537265.3 → XP_011535567.1  alpha-actinin-1 isoform X9

      UniProtKB/TrEMBL
      A0A804HKE2
      Conserved Domains (7) summary
      smart00033
      Location:64 → 162
      CH; Calponin homology domain
      cd00014
      Location:174 → 278
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:787 → 854
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:424 → 659
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:303 → 413
      Spectrin; Spectrin repeat
      pfam08726
      Location:859 → 925
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:789 → 853
      EF-hand_7; EF-hand domain pair

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      63083135..63188360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376848.1 → XP_054232823.1  alpha-actinin-1 isoform X4

    2. XM_054376847.1 → XP_054232822.1  alpha-actinin-1 isoform X3

    3. XM_054376850.1 → XP_054232825.1  alpha-actinin-1 isoform X6

    4. XM_054376849.1 → XP_054232824.1  alpha-actinin-1 isoform X5

    5. XM_054376852.1 → XP_054232827.1  alpha-actinin-1 isoform X8

    6. XM_054376851.1 → XP_054232826.1  alpha-actinin-1 isoform X7

    7. XM_054376845.1 → XP_054232820.1  alpha-actinin-1 isoform X1

    8. XM_054376856.1 → XP_054232831.1  alpha-actinin-1 isoform X12

    9. XM_054376846.1 → XP_054232821.1  alpha-actinin-1 isoform X2

    10. XM_054376854.1 → XP_054232829.1  alpha-actinin-1 isoform X10

    11. XM_054376853.1 → XP_054232828.1  alpha-actinin-1 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12814.2 GenPept UniProtKB/Swiss-Prot:P12814

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