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Aliases & Descriptions for ACTN1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ40884 2 FLJ54432 2
Descriptions Alpha-actinin cytoskeletal isoform 3 F-actin cross-linking protein 2 , 3 Non-muscle alpha-actinin-1 3 actinin 1 smooth muscle 2 actinin, alpha 1 2 alpha-actinin 1 2
Search outside databases for aliases for ACTN1 genePrevious GC identifers: GC14M066846 GC14M063137 GC14M067330 GC14M067331
Summaries for ACTN1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACTN1 : Alpha actinins belong to the spectrin gene superfamily which represents a diverse group ofcytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is anactin-binding protein with multiple roles in different cell types. In nonmuscle cells, thecytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it isinvolved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscleisoforms are localized to the Z-disc and analogous dense bodies, where they help anchor themyofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoformand maps to the same site as the structurally similar erythroid beta spectrin gene. Threetranscript variants encoding different isoforms have been found for this gene. [provided byRefSeq] UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814 Function : F-actin cross-linking protein which is thought to anchor actin to a variety ofintracellular structures. This is a bundling protein
Gene Wiki entry for ACTN1 (Actinin%2C_alpha_1)
Genomic Location for ACTN1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACTN1 gene Entrez Gene cytogenetic band: 14q24.1-q24.2|14q24|14q22-q24 Ensembl cytogenetic band: 14q24.1 HGNC cytogenetic band: 14q24.1 ACTN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14M068410:
(about GC identifiers )
Start:
68,410,793 bp from pter
End:
68,515,763 bp from pter
Size:
104,971 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000014.7 NT_026437.11 Proteins for ACTN1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814 (See
protein sequence )Recommended Name: Alpha-actinin-1 Size : 892 amino acids; 103058 Da
Subunit : Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP
Subcellular location : Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z-disk.Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle
PDB structure from and Proteopedia : 2EYI (3D)
 2EYN (3D)
 
Secondary accessions : Q9BTN1
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001093.1 NP_001123476.1 NP_001123477.1 ENSEMBL proteins: ENSP00000193403 ENSP00000377941 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ACTN1: Assays for ACTN1:
Protein
Domains/ Families for ACTN1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P12814 ProtoNet protein and cluster: P12814
3 Blocks protein families : IPB001589 Actin-binding IPB001715 Calponin-like actin-binding IPB002017 Spectrin repeat UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814 Similarity : Belongs to the alpha-actinin familySimilarity : Contains 1 actin-binding domainSimilarity : Contains 2 CH (calponin-homology) domainsSimilarity : Contains 2 EF-hand domainsSimilarity : Contains 4 spectrin repeats
Gene Function for ACTN1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
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siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_001130004 Applied Biosystems Silencer ® siRNAs for ACTN1 Sigma-Aldrich siRNA for ACTN1 Sigma-Aldrich shRNA Panels and shRNA for ACTN1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001102                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001102                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001102  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001130004 UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814 Function : F-actin cross-linking protein which is thought to anchor actin to a variety ofintracellular structures. This is a bundling protein
Genatlas biochemistry entry for ACTN1 :actinin,alpha 1,actin filament cross-linking,calcium sensitive,cytoskeletal type,expressed in nonmuscle cells 5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ACTN1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTN1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ACTN1 5/92 Interacting proteins for ACTN1 (P12814 1 , 2 ENSP00000193403 3 ) via UniProtKB, MINT, and/or STRING (see all 92
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ACTN1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ACTN1 1 Novoseek chemical compound relationship for ACTN1 gene
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Transcripts for ACTN1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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siRNAs from Applied Biosystems ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_001130004 Sigma-Aldrich siRNA for ACTN1 Sigma-Aldrich shRNA Panels and shRNA for ACTN1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001102 NM_001130004 NM_001130005
REFSEQ mRNAs for ACTN1 gene (3 alternative transcripts): NM_001102.3 NM_001130004.1 NM_001130005.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001102 NM_001130004 NM_001130005
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001102                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001102                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001102  
Additional cDNA sequence: AJ844628.2 AK022224.1 AK098203.1 AK124378.1 AK225782.1 AK294317.1 AK295099.1 AK298496.1 AK299362.1 BC003576.1 BC004984.1 BC015766.1 BC127124.1 BT007207.1 BX248020.1 BX641076.1 CR609497.1 CR620987.1 DQ496098.1 EU716325.1 FJ410030.1 M95178.1 X15804.1 X55187.1
24/55 DOTS entries (see all 55
): DT.100771871 DT.100887428 DT.100766388 DT.91823921 DT.91782289 DT.95125704 DT.87017777 DT.120785717 DT.100887439 DT.91782278 DT.91679968 DT.102839930 DT.100887429 DT.100887448 DT.95287775 DT.100887434 DT.120785745 DT.100887445 DT.95276950 DT.91971379 DT.100660649 DT.100887419 DT.75110244 DT.91818067
24/699 AceView cDNA sequences (see all 699
):AU124830 BE312967 BM762824 AW084267 BC003576 BU621901 BQ010008 AI139065 W51764 BQ017489 AW071868 BM709038 BQ649552 AA418035 BM695526 BM915810 BM802096 BE701572 AI082078 CF890756 BU520922 BM676908 CD365004 BQ021240
highest scoring ESTs for ACTN1 :X15804 M95178 AK098203 AU098889 AU121135 AU121719 AU128840 AU130638 AU132715 AU280791
Unigene Cluster for ACTN1: Actinin, alpha 1 Hs.509765 [show with all ESTs ] Unigene Representative Sequence: BX641076 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ACTN1 (see all 12
) ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ SP1 :     -   -     -                           -                 SP2 :                                     -                 SP3 :                                                     SP4 :                                                     SP5 :     -   -   -   -   -                                        
ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b SP1 : -       -       -         SP2 : -       -   -   -           SP3 :                     SP4 : -       -   -   -   -         SP5 :                    
About this scheme ECgene alternative splicing isoforms for ACTN1 2 Ensembl transcripts including schematic representations : ENST00000193403
ENST00000394419
Expression for ACTN1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ACTN1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACTN1 1 / 2 / 3
10 probe-sets matching ACTN1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCCTTCTCCASOURCE GeneReport for Unigene cluster: Hs.509765 Expression variation in blood from EXPOLDB for ACTN1
Orthologs for ACTN1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACTN1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for ACTN1 ENSEMBL Gene Tree for ACTN1 Paralogs for ACTN1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACTN1 gene ACTN2 2 ACTN4 2 ACTN3 2
SNPs/Variants for ACTN1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ACTN1 (up to first 250kb)
Disorders & Mutations for ACTN1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 102575 1 Novoseek disease relationship for ACTN1 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tumors
0.00
5
18320066 (3)
About this table 1 PharmGKB disease relationship for ACTN1 gene About this table
Medical News for ACTN1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ACTN1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/120 PubMed articles for ACTN1 gene (see all 120
): Cloning and chromosomal localization of the human cytoskeletal alpha- actinin gene reveals linkage to the beta-spectrin gene. (PubMed id 2349951) 2, 3, 4 Youssoufian H.... Kwiatkowski D.J. (1990) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC. (PubMed id 16097034) 3, 4 Gevaert K.... Vandekerckhove J. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801) 3, 4 Gevaert K.... Vandekerckhove J. (2003) The lipoma preferred partner LPP interacts with alpha-actinin. (PubMed id 12615977) 3, 4 Li B.... Trueb B. (2003) The cytoskeletal/non-muscle isoform of alpha-actinin is phosphorylated on its actin-binding domain by the focal adhesion kinase. (PubMed id 11369769) 3, 4 Izaguirre G.... Haimovich B. (2001) Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196) 3, 4 Frey N.... Olson E.N. (2000) Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. (PubMed id 10369880) 3, 4 Salmikangas P....Carpen O. (1999) Identification of the 70kD heat shock cognate protein (Hsc70) and alpha-actinin-1 as novel phosphotyrosine-containing proteins in T lymphocytes. (PubMed id 8713105) 3, 4 Egerton M.... Simpson R.J. (1996)
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Genome Databases showing ACTN1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACTN1
(According to HUGE )
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Specialized Databases showing ACTN1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for ACTN1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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