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

Summary

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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, Dec 2024]
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Genomic context

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See atn-1 in Genome Data Viewer

Location:: chromosome: V

Exon count:: 10

Sequence:: Chromosome: V; NC_003283.11 (12478411..12484449)

Chromosome V - NC_003283.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003283.11

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fascin and alpha-actinin intrinsically segregate to discrete bundled domains that are specifically recognized by other actin-binding proteins.
Title: Fascin- and α-Actinin-Bundled Networks Contain Intrinsic Structural Features that Drive Protein Sorting.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

W04D2.1 (e-PCR)
- UniSTS:308152

Homology

Orthologs from OrthoDB

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

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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

NC_003283.11 Reference assembly

Range

12478411..12484449

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_073727.5 → NP_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:151 → 254

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:756 → 822

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:400 → 628

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:279 → 388

Spectrin; Spectrin repeat

pfam08726
Location:827 → 893

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl02488
Location:641 → 739

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; ...
NM_073726.6 → NP_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:151 → 254

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:782 → 848

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:426 → 654

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:305 → 414

Spectrin; Spectrin repeat

pfam08726
Location:853 → 919

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl02488
Location:667 → 765

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; ...
NM_001269494.3 → NP_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:3 → 68

CH; Calponin homology domain

cd00014
Location:80 → 183

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:711 → 777

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:355 → 583

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:234 → 343

Spectrin; Spectrin repeat

pfam08726
Location:782 → 848

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl02488
Location:596 → 694

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; ...
NM_001269495.3 → NP_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:3 → 68

CH; Calponin homology domain

cd00014
Location:80 → 183

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:685 → 751

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:329 → 557

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:208 → 317

Spectrin; Spectrin repeat

pfam08726
Location:756 → 822

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl02488
Location:570 → 668

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; ...