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Actn1 Gene Detail
Summary
  • Symbol
    Actn1
  • Name
    actinin, alpha 1
  • Synonyms
    3110023F10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137706
    NCBI Gene: 109711
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:80214321-80307145 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 36.49 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2628 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2137706
 protein coding gene Chr12:80214316-80307165 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019886
 protein coding gene Chr12:80508726-80607516 (-)
A/J MGP_AJ_G0019844
 protein coding gene Chr12:77604041-77697271 (-)
AKR/J MGP_AKRJ_G0019819
 protein coding gene Chr12:79709580-79809177 (-)
BALB/cJ MGP_BALBcJ_G0019823
 protein coding gene Chr12:77853452-77948073 (-)
C3H/HeJ MGP_C3HHeJ_G0019629
 protein coding gene Chr12:80186492-80282902 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020275
 protein coding gene Chr12:82871347-82974249 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017894
 protein coding gene Chr12:74609716-74703413 (-)
CAST/EiJ MGP_CASTEiJ_G0019179
 protein coding gene Chr12:75040730-75142714 (-)
CBA/J MGP_CBAJ_G0019600
 protein coding gene Chr12:86112050-86216049 (-)
DBA/2J MGP_DBA2J_G0019715
 protein coding gene Chr12:77221567-77314915 (-)
FVB/NJ MGP_FVBNJ_G0019701
 protein coding gene Chr12:76034663-76132616 (-)
LP/J MGP_LPJ_G0019787
 protein coding gene Chr12:80439701-80534962 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019740
 protein coding gene Chr12:89146961-89247395 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020310
 protein coding gene Chr12:79238044-79333929 (-)
PWK/PhJ MGP_PWKPhJ_G0018945
 protein coding gene Chr12:71609554-71706169 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018739
 protein coding gene Chr12:73730869-73832728 (-)
WSB/EiJ MGP_WSBEiJ_G0019232
 protein coding gene Chr12:79869046-79971388 (-)



Homology
more
  • Human Ortholog
    ACTN1, actinin alpha 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTN1, actinin alpha 1
  • Synonyms
    BDPLT15
  • Links
    NCBI Gene ID: 87
    neXtProt AC: NX_P12814
    UniProt: P12814

  • Chr Location
    14q24; chr14:68874128-68979440 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ACTN1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    23
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    715
  • Tissues
    4
  • cDNA Data
    13
  • Literature Summary
    17
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000015143 Ensembl Gene Model | MGI Sequence Detail 92825 C57BL/6J ±  kb
transcript ENSMUST00000021554 Ensembl | MGI Sequence Detail 3734 Not Applicable  
polypeptide ENSMUSP00000021554 Ensembl | MGI Sequence Detail 892 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 13
    Primer pair 3

    Microarray probesets 7
Other
Accession IDs
less
MGI:1920406
References
more
  • Summaries
    All 99
    Developmental Gene Expression 17
    Gene Ontology 23
    Phenotypes 13
  • Earliest
    J:64143 Harper BD, et al., Fine mapping of the alpha-actinin binding site within cysteine-rich protein. Biochem J. 2000 Aug 15;350 Pt 1:269-74
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory