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atn-1 Alpha-actinin, sarcomeric [ Caenorhabditis elegans ]

Gene ID: 179709, updated on 2-Nov-2024

Summary

Official Symbol
atn-1
Official Full Name
Alpha-actinin, sarcomeric
Primary source
WormBase:WBGene00000228
Locus tag
CELE_W04D2.1
See related
AllianceGenome:WB:WBGene00000228
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Caenorhabditis elegans (strain: Bristol N2)
Lineage
Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary
Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and muscle cell development. Located in dense body; striated muscle dense body; and striated muscle thin filament. Is expressed in several structures, including body wall; body wall musculature; non-striated muscle; pharynx; and tail. Human ortholog(s) of this gene implicated in congenital myopathy 8; focal segmental glomerulosclerosis (multiple); intrinsic cardiomyopathy (multiple); and platelet-type bleeding disorder 15. Orthologous to several human genes including ACTN2 (actinin alpha 2) and ACTN3 (actinin alpha 3). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

See atn-1 in Genome Data Viewer
Location:
chromosome: V
Exon count:
10
Sequence:
Chromosome: V; NC_003283.11 (12478411..12484449)

Chromosome V - NC_003283.11Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Serpentine Receptor, class T Neighboring gene ncRNA Neighboring gene Innexin;Innexin-11

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by WormBase

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein 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 muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in dense body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in striated muscle dense body IDA
Inferred from Direct Assay
more info
PubMed 
located_in striated muscle thin filament IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Alpha-actinin, sarcomeric
NP_001256423.1
  • Confirmed by transcript evidence
NP_001256424.1
  • Confirmed by transcript evidence
NP_506127.1
  • Confirmed by transcript evidence
NP_506128.1
  • Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NC_003283.11 Reference assembly

    Range
    12478411..12484449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_073727.5NP_506128.1  Alpha-actinin, sarcomeric [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_506128.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q9XVU8
    Conserved Domains (6) summary
    cd00014
    Location:151254
    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:756822
    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:400628
    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:279388
    Spectrin; Spectrin repeat
    pfam08726
    Location:827893
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl02488
    Location:641739
    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; ...
  2. NM_073726.6NP_506127.1  Alpha-actinin, sarcomeric [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_506127.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q23158
    Conserved Domains (6) summary
    cd00014
    Location:151254
    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:782848
    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:426654
    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:305414
    Spectrin; Spectrin repeat
    pfam08726
    Location:853919
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl02488
    Location:667765
    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; ...
  3. NM_001269494.3NP_001256423.1  Alpha-actinin, sarcomeric [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_001256423.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    H2L2C9
    Conserved Domains (7) summary
    smart00033
    Location:368
    CH; Calponin homology domain
    cd00014
    Location:80183
    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:711777
    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:355583
    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:234343
    Spectrin; Spectrin repeat
    pfam08726
    Location:782848
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl02488
    Location:596694
    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; ...
  4. NM_001269495.3NP_001256424.1  Alpha-actinin, sarcomeric [Caenorhabditis elegans]

    See identical proteins and their annotated locations for NP_001256424.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    H2L2C8
    Conserved Domains (7) summary
    smart00033
    Location:368
    CH; Calponin homology domain
    cd00014
    Location:80183
    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:685751
    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:329557
    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:208317
    Spectrin; Spectrin repeat
    pfam08726
    Location:756822
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    cl02488
    Location:570668
    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; ...