ACTA1 (actin, alpha 1, skeletal muscle)

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

ACTA1 (actin, alpha 1, skeletal muscle)

Identity

Other names	ACTA
	ASMA
	CFTD
	CFTD1
	CFTDM
	MPFD
	NEM1
	NEM2
	NEM3
HGNC (Hugo)	ACTA1
LocusID (NCBI)	58
Location	1q42.13
Location_base_pair	Starts at 229566993 and ends at 229569843 bp from pter ( according to hg19-Feb_2009)
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
	Cards
Entrez_Gene (NCBI)	ACTA1 58 actin, alpha 1, skeletal muscle
GeneCards (Weizmann)	ACTA1
Ensembl hg19 (Hinxton)	ENSG00000143632 [Gene_View] chr1:229566993-229569843 [Contig_View] ACTA1 [Vega]
Ensembl hg38 (Hinxton)	ENSG00000143632 [Gene_View] chr1:229566993-229569843 [Contig_View] ACTA1 [Vega]
ICGC DataPortal	ENSG00000143632
cBioPortal	ACTA1
AceView (NCBI)	ACTA1
Genatlas (Paris)	ACTA1
WikiGenes	58
SOURCE (Princeton)	ACTA1
	Genomic and cartography
GoldenPath hg19 (UCSC)	ACTA1 - chr1:229566993-229569843 - 1q42.13 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	ACTA1 - 1q42.13 [Description] (hg38-Dec_2013)
Ensembl	ACTA1 - 1q42.13 [CytoView hg19] ACTA1 - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBI	ACTA1 [Mapview hg19] ACTA1 [Mapview hg38]
OMIM	102610 161800 255310
	Gene and transcription
Genbank (Entrez)	AK096902 AK300697 AL598491 AY280960 BC012597
RefSeq transcript (Entrez)	NM_001100
RefSeq genomic (Entrez)	AC_000133 NC_000001 NC_018912 NG_006672 NT_167186 NW_001838547 NW_004929294
Consensus coding sequences : CCDS (NCBI)	ACTA1
Cluster EST : Unigene	Hs.1288 [ NCBI ]
CGAP (NCI)	Hs.1288
Alternative Splicing : Fast-db (Paris)	GSHG0003024
Alternative Splicing Gallery	ENSG00000143632
Gene Expression	ACTA1 [ NCBI-GEO ] ACTA1 [ SEEK ] ACTA1 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P68133 (Uniprot)
NextProt	P68133 [Medical]
With graphics : InterPro	P68133
Splice isoforms : SwissVar	P68133 (Swissvar)
Domaine pattern : Prosite (Expaxy)	ACTINS_1 (PS00406) ACTINS_2 (PS00432) ACTINS_ACT_LIKE (PS01132)
Domains : Interpro (EBI)	Actin-related Actin/actin-like_CS Actin_CS
Related proteins : CluSTr	P68133
Domain families : Pfam (Sanger)	Actin (PF00022)
Domain families : Pfam (NCBI)	pfam00022
Domain families : Smart (EMBL)	ACTIN (SM00268)
DMDM Disease mutations	58
Blocks (Seattle)	P68133
PDB (SRS)	1T44
PDB (PDBSum)	1T44
PDB (IMB)	1T44
PDB (RSDB)	1T44
Human Protein Atlas	ENSG00000143632
Peptide Atlas	P68133
HPRD	00030
IPI	IPI00021428 IPI00514530 IPI00414057 IPI00878173
	Protein Interaction databases
DIP (DOE-UCLA)	P68133
IntAct (EBI)	P68133
FunCoup	ENSG00000143632
BioGRID	ACTA1
IntegromeDB	ACTA1
STRING (EMBL)	ACTA1
	Ontologies - Pathways
QuickGO	P68133
Ontology : AmiGO	stress fiber structural constituent of cytoskeleton protein binding ATP binding extracellular space cytosol striated muscle thin filament actin filament muscle contraction response to mechanical stimulus response to extracellular stimulus response to lithium ion actin cytoskeleton cell growth myosin binding sarcomere muscle filament sliding skeletal muscle thin filament assembly skeletal muscle fiber adaptation ADP binding response to steroid hormone skeletal muscle fiber development extracellular vesicular exosome blood microparticle
Ontology : EGO-EBI	stress fiber structural constituent of cytoskeleton protein binding ATP binding extracellular space cytosol striated muscle thin filament actin filament muscle contraction response to mechanical stimulus response to extracellular stimulus response to lithium ion actin cytoskeleton cell growth myosin binding sarcomere muscle filament sliding skeletal muscle thin filament assembly skeletal muscle fiber adaptation ADP binding response to steroid hormone skeletal muscle fiber development extracellular vesicular exosome blood microparticle
Pathways : BIOCARTA	Synaptic Proteins at the Synaptic Junction [Genes] Y branching of actin filaments [Genes] Integrin Signaling Pathway [Genes] Stress Induction of HSP Regulation [Genes] Role of MAL in Rho-Mediated Activation of SRF [Genes] Eph Kinases and ephrins support platelet aggregation [Genes] Rab GTPases Mark Targets In The Endocytotic Machinery [Genes] mCalpain and friends in Cell motility [Genes] Actions of Nitric Oxide in the Heart [Genes] How does salmonella hijack a cell [Genes] Agrin in Postsynaptic Differentiation [Genes] How Progesterone Initiates the Oocyte Maturation [Genes] Signaling of Hepatocyte Growth Factor Receptor [Genes] NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes] uCalpain and friends in Cell spread [Genes]
Protein Interaction Database	ACTA1
DoCM (Curated mutations)	ACTA1
Wikipedia pathways	ACTA1
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	ACTA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	ACTA1
dbVar	ACTA1
ClinVar	ACTA1
1000_Genomes	ACTA1
Exome Variant Server	ACTA1
SNP (GeneSNP Utah)	ACTA1
SNP : HGBase	ACTA1
Genetic variants : HAPMAP	ACTA1
Genomic Variants (DGV)	ACTA1 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000143632
Somatic Mutations in Cancer : COSMIC	ACTA1
CONAN: Copy Number Analysis	ACTA1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	1:229566993-229569843
Mutations and Diseases : HGMD	ACTA1
OMIM	102610 161800 255310
Medgen	ACTA1
NextProt	P68133 [Medical]
GENETests	ACTA1
Disease Genetic Association	ACTA1
Huge Navigator	ACTA1 [HugePedia] ACTA1 [HugeCancerGEM]
snp3D : Map Gene to Disease	58
DGIdb (Drug Gene Interaction db)	ACTA1
	General knowledge
Homologs : HomoloGene	ACTA1
Homology/Alignments : Family Browser (UCSC)	ACTA1
Phylogenetic Trees/Animal Genes : TreeFam	ACTA1
Chemical/Protein Interactions : CTD	58
Chemical/Pharm GKB Gene	PA24455
Clinical trial	ACTA1
Cancer Resource (Charite)	ENSG00000143632
	Other databases
	Probes
	Litterature
PubMed	322 Pubmed reference(s) in Entrez
CoreMine	ACTA1
GoPubMed	ACTA1
iHOP	ACTA1

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 14:32:31 CET 2015

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jlhuret@AtlasGeneticsOncology.org.