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ACTN3 actinin alpha 3 [ Sus scrofa (pig) ]

Gene ID: 100519531, updated on 17-Aug-2024

Summary

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Official Symbol
ACTN3provided by VGNC
Official Full Name
actinin alpha 3provided by VGNC
Primary source
VGNC:VGNC:96785
See related
Ensembl:ENSSSCG00000038323
Gene type
protein coding
RefSeq status
MODEL
Organism
Sus scrofa
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
Expression
Biased expression in longissimus dorsi muscle (RPKM 1516.2), psoas major muscle (RPKM 735.9) and 1 other tissue See more
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 2
Exon count:
21
Annotation release Status Assembly Chr Location
106 current Sscrofa11.1 (GCF_000003025.6) 2 NC_010444.4 (5860386..5873779, complement)
105 previous assembly Sscrofa10.2 (GCF_000003025.5) 2 NC_010444.3 (4936279..4949682, complement)

Chromosome 2 - NC_010444.4Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 87 Neighboring gene cathepsin F Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene Bardet-Biedl syndrome 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Transcriptome data used for gene annotation Transcriptome data used for gene annotation
  • Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
  • BioProject: PRJNA311523
  • Publication: PMID 27646534
  • Analysis date: Thu Dec 14 17:10:49 2017

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables actin filament binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in muscle cell development IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
alpha-actinin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Sus scrofa Annotation Release 106 details...Open this link in a new tab

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

Reference Sscrofa11.1 Primary Assembly

Genomic

  1. NC_010444.4 Reference Sscrofa11.1 Primary Assembly

    Range
    5860386..5873779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_003122492.4 → XP_003122540.1  alpha-actinin-3 isoform X2

    See identical proteins and their annotated locations for XP_003122540.1

    UniProtKB/TrEMBL
    A0A480REY2, A0A8D1AKK0, A0A8D1LFW0
    Related
    ENSSSCP00000013767.5, ENSSSCT00000014153.5
    Conserved Domains (7) summary
    cd00014
    Location:160 → 265
    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:765 → 827
    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:410 → 637
    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; ...
    pfam00307
    Location:47 → 145
    CH; Calponin homology (CH) domain
    pfam00435
    Location:289 → 398
    Spectrin; Spectrin repeat
    pfam08726
    Location:832 → 898
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:767 → 826
    EF-hand_7; EF-hand domain pair

  2. XM_005660645.3 → XP_005660702.1  alpha-actinin-3 isoform X1

    See identical proteins and their annotated locations for XP_005660702.1

    UniProtKB/TrEMBL
    A0A5G2QU26
    Related
    ENSSSCP00000067659.2, ENSSSCT00000081024.2
    Conserved Domains (6) summary
    cd00014
    Location:160 → 265
    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:807 → 856
    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:410 → 637
    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; ...
    pfam00307
    Location:47 → 145
    CH; Calponin homology (CH) domain
    pfam00435
    Location:289 → 398
    Spectrin; Spectrin repeat
    pfam08726
    Location:861 → 927
    EFhand_Ca_insen; Ca2+ insensitive EF hand
Nucleotide Protein
Heading Accession and Version

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