Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ACTA1 (actin alpha 1, skeletal muscle)

Identity

Alias (NCBI)ACTA
ASMA
CFTD
CFTD1
CFTDM
MPFD
NEM1
NEM2
NEM3
SHPM
HGNC (Hugo) ACTA1
HGNC Alias symbNEM3
HGNC Alias namenemaline myopathy type 3
HGNC Previous nameACTA
LocusID (NCBI) 58
Atlas_Id 43599
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 229431246 and ends at 229434094 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACTA1 (1q42.13) / GAS7 (17p13.1)ACTA1 (1q42.13) / H19 (11p15.5)ACTA1 (1q42.13) / SYVN1 (11q13.1)
BOLA2 (16p11.2) / ACTA1 (1q42.13)MTATP6P1 () / ACTA1 (1q42.13)SNX19 (11q24.3) / ACTA1 (1q42.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACTA1   129
LRG (Locus Reference Genomic)LRG_429
Cards
Entrez_Gene (NCBI)ACTA1    actin alpha 1, skeletal muscle
AliasesACTA; ASMA; CFTD; CFTD1; 
CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM
GeneCards (Weizmann)ACTA1
Ensembl hg19 (Hinxton)ENSG00000143632 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143632 [Gene_View]  ENSG00000143632 [Sequence]  chr1:229431246-229434094 [Contig_View]  ACTA1 [Vega]
ICGC DataPortalENSG00000143632
TCGA cBioPortalACTA1
AceView (NCBI)ACTA1
Genatlas (Paris)ACTA1
SOURCE (Princeton)ACTA1
Genetics Home Reference (NIH)ACTA1
Genomic and cartography
GoldenPath hg38 (UCSC)ACTA1  -     chr1:229431246-229434094 -  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTA1  -     1q42.13   [Description]    (hg19-Feb_2009)
GoldenPathACTA1 - 1q42.13 [CytoView hg19]  ACTA1 - 1q42.13 [CytoView hg38]
ImmunoBaseENSG00000143632
genome Data Viewer NCBIACTA1 [Mapview hg19]  
OMIM102610   161800   255310   616852   
Gene and transcription
Genbank (Entrez)AK096902 AK300697 AL598491 AY280960 BC012597
RefSeq transcript (Entrez)NM_001100
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTA1
Alternative Splicing GalleryENSG00000143632
Gene ExpressionACTA1 [ NCBI-GEO ]   ACTA1 [ EBI - ARRAY_EXPRESS ]   ACTA1 [ SEEK ]   ACTA1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTA1 [ Firebrowse - Broad ]
GenevisibleExpression of ACTA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58
GTEX Portal (Tissue expression)ACTA1
Human Protein AtlasENSG00000143632-ACTA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68133   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP68133  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP68133
Splice isoforms : SwissVarP68133
PhosPhoSitePlusP68133
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTA1
Blocks (Seattle)ACTA1
SuperfamilyP68133
Human Protein Atlas [tissue]ENSG00000143632-ACTA1 [tissue]
Peptide AtlasP68133
HPRD00030
IPIIPI00021428   IPI00514530   IPI00414057   IPI00878173   
Protein Interaction databases
DIP (DOE-UCLA)P68133
IntAct (EBI)P68133
BioGRIDACTA1
STRING (EMBL)ACTA1
ZODIACACTA1
Ontologies - Pathways
QuickGOP68133
Ontology : AmiGOstress fiber  stress fiber  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  cytosol  striated muscle thin filament  striated muscle thin filament  dynactin complex  actin filament  actin filament  muscle contraction  response to mechanical stimulus  response to extracellular stimulus  response to lithium ion  positive regulation of gene expression  actin cytoskeleton  actin cytoskeleton  myosin binding  sarcomere  lamellipodium  muscle filament sliding  filopodium  skeletal muscle thin filament assembly  skeletal muscle thin filament assembly  skeletal muscle fiber adaptation  ADP binding  cell body  response to steroid hormone  skeletal muscle fiber development  extracellular exosome  cellular response to organonitrogen compound  blood microparticle  mesenchyme migration  
Ontology : EGO-EBIstress fiber  stress fiber  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  cytosol  striated muscle thin filament  striated muscle thin filament  dynactin complex  actin filament  actin filament  muscle contraction  response to mechanical stimulus  response to extracellular stimulus  response to lithium ion  positive regulation of gene expression  actin cytoskeleton  actin cytoskeleton  myosin binding  sarcomere  lamellipodium  muscle filament sliding  filopodium  skeletal muscle thin filament assembly  skeletal muscle thin filament assembly  skeletal muscle fiber adaptation  ADP binding  cell body  response to steroid hormone  skeletal muscle fiber development  extracellular exosome  cellular response to organonitrogen compound  blood microparticle  mesenchyme migration  
NDEx NetworkACTA1
Atlas of Cancer Signalling NetworkACTA1
Wikipedia pathwaysACTA1
Orthology - Evolution
OrthoDB58
GeneTree (enSembl)ENSG00000143632
Phylogenetic Trees/Animal Genes : TreeFamACTA1
HOGENOMP68133
Homologs : HomoloGeneACTA1
Homology/Alignments : Family Browser (UCSC)ACTA1
Gene fusions - Rearrangements
Fusion : QuiverACTA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTA1 [hg38]
dbVarACTA1
ClinVarACTA1
MonarchACTA1
1000_GenomesACTA1 
Exome Variant ServerACTA1
GNOMAD BrowserENSG00000143632
Varsome BrowserACTA1
Genomic Variants (DGV)ACTA1 [DGVbeta]
DECIPHERACTA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTA1 
Mutations
ICGC Data PortalACTA1 
TCGA Data PortalACTA1 
Broad Tumor PortalACTA1
OASIS PortalACTA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACTA1
Mutations and Diseases : HGMDACTA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACTA1
DgiDB (Drug Gene Interaction Database)ACTA1
DoCM (Curated mutations)ACTA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTA1 (select a term)
intoGenACTA1
Cancer3DACTA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102610    161800    255310    616852   
Orphanet17906    17907    17908    17909    493    23557    12866    12863    13921   
DisGeNETACTA1
MedgenACTA1
Genetic Testing Registry ACTA1
NextProtP68133 [Medical]
GENETestsACTA1
Target ValidationACTA1
Huge Navigator ACTA1 [HugePedia]
ClinGenACTA1
Clinical trials, drugs, therapy
MyCancerGenomeACTA1
Protein Interactions : CTD
Pharm GKB GenePA24455
PharosP68133
Clinical trialACTA1
Miscellaneous
canSAR (ICR)ACTA1 (select the gene name)
HarmonizomeACTA1
DataMed IndexACTA1
Probes
Litterature
PubMed393 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACTA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:04:17 CET 2021
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