Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACTN1 Gene

protein-coding GIFtS: 66
GCID: GC14M069341

actinin, alpha 1

Explore 29 diseases affiliated with
ACTN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Actinin, Alpha 1¹ ²
Alpha-Actinin Cytoskeletal Isoform² ³
Non-Muscle Alpha-Actinin-1² ³
F-Actin Cross-Linking Protein² ³
Actinin 1 Smooth Muscle²
Alpha-Actinin-1¹

External Ids:	HGNC: 163¹	Entrez Gene: 87²	Ensembl: ENSG00000072110⁷	OMIM: 102575⁵	UniProtKB: P12814³

Export aliases for ACTN1 gene to outside databases

Previous GC identifers: GC14M066846 GC14M063137 GC14M067330 GC14M067331 GC14M068410 GC14M049510

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACTN1:

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins,

including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles

in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and

adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and

smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar

actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the

structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been

found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814

Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This

is a bundling protein

Gene Wiki entry for ACTN1 (Actinin, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACTN1 gene promoter:
GR AhR Elk-1 Sp1 MyoD Arnt CREB c-Myb GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACTN1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACTN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 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)
ACTN1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M069341: view genomic region (about GC identifiers)

Start:	69,340,840 bp from pter	End:	69,446,157 bp from pter
Size:	105,318 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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. Interacts with PSD (By similarity)

Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By similarity).

Cell projection, ruffle (By similarity). Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal

muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity)

2 PDB 3D structures from and Proteopedia for ACTN1:

2EYI (3D)

2EYN (3D)

Secondary accessions: B3V8S3 B4DHH3 Q1HE25 Q9BTN1

Alternative splicing: 3 isoforms: P12814-1 P12814-2 P12814-3

Explore the universe of human proteins at neXtProt for ACTN1: NX_P12814

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P12814

ACTN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001093.1 NP_001123476.1 NP_001123477.1

ENSEMBL proteins:

ENSP00000193403 ENSP00000377941 ENSP00000414272 ENSP00000366035 ENSP00000452254

ENSP00000439828 ENSP00000444422 ENSP00000450625 ENSP00000450903 ENSP00000450764

ENSP00000450925 ENSP00000450618 ENSP00000452423 ENSP00000451086

Reactome Protein details: P12814
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ACTN1 OriGene Protein Over-expression Lysate: ACTN1 OriGene Custom Protein Services for ACTN1
	GenScript Custom Purified and Recombinant Proteins Services for ACTN1
	Novus Biologicals ACTN1 Proteins Novus Biologicals ACTN1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ACTN1
	Uscn Proteins for ACTN1

Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	--	--
GO:0001726	ruffle	IEA	--
GO:0005576	extracellular region	TAS	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	16464232

ACTN1 for ontologies About GeneDecksing

ACTN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for ACTN1
	OriGene Antibodies (see all 3): ACTN1 OriGene Custom Antibody Services for ACTN1
	GenScript Custom Superior Antibodies Services for ACTN1
	Novus Biologicals ACTN1 Antibodies
	Abcam antibodies for ACTN1
	Uscn Antibodies for ACTN1
	ThermoFisher Antibodies for ACTN1

Assay Products for ACTN1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ACTN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ACTN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACTN1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR014837 EF-hand_Ca_insen

IPR018247 EF_Hand_1_Ca_BS

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR011992 EF-hand-like_dom

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 family

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 2 EF-hand domains

Similarity: Contains 4 spectrin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814

Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This

is a bundling protein

Genatlas biochemistry entry for ACTN1:

actinin,alpha 1,actin filament cross-linking,calcium sensitive,cytoskeletal type,expressed in non muscle cells

miRNA Products:		miRTarBase miRNAs that target ACTN1: hsa-mir-218 (MIRT005004)

		OriGene 3'-UTR Clone (see all 3): ACTN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTN1
		8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTN1 (see all 32):
		hsa-miR-3685 hsa-miR-3678-3p hsa-miR-607 hsa-miR-374a hsa-miR-30d hsa-miR-218 hsa-miR-507 hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: ACTN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACTN1 (see all 7) OriGene shRNA RFP: ACTN1 OriGene siRNA: ACTN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACTN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ACTN1 (NM_001130004)
		Sino Biological Human cDNA Clone for ACTN1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACTN1
		Search LifeMap BioReagents cell lines for ACTN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	--	--
GO:0005178	integrin binding	IDA	7983147
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	16291744
GO:0017166	vinculin binding	IPI	15988023

ACTN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ACTN1:

Decreased focal adhesion (FA)

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Actn1):

no phenotypic analysis

ACTN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility	0.32
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility	0.32
Cytoskeleton remodeling_Integrin outside-in signaling	0.37	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms	0.21
Cytoskeleton remodeling Integrin outside-in signaling	0.37	Cell adhesion Endothelial cell contacts by non-junctional mechanisms	0.21

Sertoli-Sertoli Cell Junction Dynamics

	Sertoli-Sertoli Cell Junction Dynamics	1.00			Epithelial Tight Junctions	0.36
	Germ Cell-Sertoli Cell Junction Dynamics	0.38

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Regulation of cytoskeletal remodeling and cell spreading by IPP complex components

Regulation of cytoskeletal remodeling and cell spreading by IPP complex components

1.00

Cell-extracellular matrix interactions

0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for ACTN1 (see all 6)

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Integrin outside-in signaling
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
	Selected targets of GCR-alpha
	Cell adhesion Endothelial cell contacts by junctional mechanisms

5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTN1 (see all 6)

	Sertoli-Sertoli Cell Junction Dynamics
	ILK Signaling
	Remodeling of Adherens Junctions
	Epithelial Tight Junctions
	Germ Cell-Sertoli Cell Junction Dynamics

1 Cell Signaling Technology (CST) Pathway for ACTN1

Cytoskeletal Signaling

5/6 GeneGo (Thomson Reuters) Pathways for ACTN1 (see all 6)

	Cell adhesion Endothelial cell contacts by non-junctional mechanisms
	Cytoskeleton remodeling Integrin outside-in signaling
	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Inhibitory action of Lipoxins on neutrophil migration

5/6 BioSystems Pathways for ACTN1 (see all 6)

	Focal Adhesion
	Arrhythmogenic right ventricular cardiomyopathy
	Regulation of Actin Cytoskeleton
	Stabilization and expansion of the E-cadherin adherens junction
	Signaling events mediated by focal adhesion kinase

5/9 Reactome Pathways for ACTN1 (see all 9)

	Hemostasis
	Nephrin interactions
	Cell-extracellular matrix interactions
	Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
	Response to elevated platelet cytosolic Ca2+

5/8 Kegg Pathways (Kegg details for ACTN1) (see all 8):

	Focal adhesion
	Adherens junction
	Tight junction
	Leukocyte transendothelial migration
	Regulation of actin cytoskeleton

ACTN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACTN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/210 Interacting proteins for ACTN1 (P12814^{1, 2, 3} ENSP00000377941⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 210)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAGEA11	P43364²^,³, ENSP00000347358⁴	MINT-67745 I2D: score=4 STRING: ENSP00000347358
MYOZ1	Q9NP98²^,³, ENSP00000352272⁴	MINT-68434 I2D: score=4 STRING: ENSP00000352272
CAMK2A	Q9UQM7²^,³, ENSP00000381412⁴	MINT-45875 I2D: score=2 STRING: ENSP00000381412
FXN	Q16595²^,³, ENSP00000366482⁴	MINT-2856633 I2D: score=2 STRING: ENSP00000366482
HSP90AB1	P08238²^,³	MINT-72665 I2D: score=3

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0030168	platelet activation	TAS	--
GO:0034329	cell junction assembly	TAS	--
GO:0042981	regulation of apoptotic process	NAS	16807302

ACTN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACTN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACTN1
1 Novoseek chemical compound relationship for ACTN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	14.6	7	17898132 (2), 11802708 (1), 16547650 (1), 19920151 (1)

Search CenterWatch for drugs/clinical trials and news about ACTN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACTN1 gene (3 alternative transcripts):

NM_001102.3 NM_001130004.1 NM_001130005.1

Unigene Cluster for ACTN1:

Actinin, alpha 1

Hs.509765 [show with all ESTs]

Unigene Representative Sequence: BX641076

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000193403(uc010ttb.2 uc001xkm.3 uc001xkl.3 uc001xkn.3)

ENST00000556083(uc001xkk.3) ENST00000553882 ENST00000394419(uc010ttc.2)

ENST00000438964 ENST00000376839 ENST00000555075 ENST00000538545(uc001xko.1 uc010ttd.1)

ENST00000544964 ENST00000553290 ENST00000556432 ENST00000556343 ENST00000555616

ENST00000556433 ENST00000554508 ENST00000554158 ENST00000553370 ENST00000553779

miRNA Products:		OriGene 3'-UTR Clone (see all 3): ACTN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTN1
		8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTN1 (see all 32):
		hsa-miR-3685 hsa-miR-3678-3p hsa-miR-607 hsa-miR-374a hsa-miR-30d hsa-miR-218 hsa-miR-507 hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: ACTN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACTN1 (see all 7) OriGene shRNA RFP: ACTN1 OriGene siRNA: ACTN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ACTN1 (NM_001130004)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACTN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACTN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1

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

DQ496098.1 EU716325.1 FJ410030.1 M95178.1 X15804.1 X55187.1

24/56 DOTS entries (see all 56):

DT.100771871 DT.100887428 DT.100766388 DT.91823921 DT.91782289 DT.95125704 DT.87017777 DT.120785717

DT.100887439 DT.91782278 DT.102839930 DT.91679968 DT.100887429 DT.100887448 DT.95287775 DT.100887434

DT.120785745 DT.100887445 DT.95276950 DT.91971379 DT.100660649 DT.100887419 DT.75110244 DT.75187470

24/699 AceView cDNA sequences (see all 699):

BE701559 CF126020 AI783804 BU520922 CD722546 BX504054 BI768544 BQ425462

BM670895 BU541027 BE729043 BU543768 BE259786 AI302243 BM989999 BQ648953

BM693833 CF125358 BM824217 W51764 BQ010008 AI298860 NM_001102 BF823723

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ACTN1 (see all 12) About this scheme

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:

ECgene alternative splicing isoforms for ACTN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACTN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTTCTCCA

About this image

ACTN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Dorsal Aorta

Vascular Smooth Muscle Cells

Selective marker (cell-identifying gene)

Smooth Muscle

Heart

Myocardium

Cardiomyocytes

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Early cardiomyocytes (Differentiation of c...)

Floating colonies of cardiomyocytes (Differentiation of c...)

See ACTN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTN1

SOURCE GeneReport for Unigene cluster: Hs.509765

SABiosciences Expression via Pathway-Focused PCR Arrays including ACTN1:

Adherens Junctions in human mouse rat

Tight Junctions in human mouse rat

Focal Adhesions in human mouse rat

Cell Motility in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACTN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACTN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ACTN1 gene from 6/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACTN1¹	actinin, alpha 1	85.01(n) 97.51(a)		373918 NM_204127.1 NP_989458.1
lizard (Anolis carolinensis)	Reptilia	ACTN1⁶	--	97(a)	1 ↔ 1	GL343272.1(184321-240182)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18387²	Xenopus laevis mRNA similar to actinin, alpha 1 (cDNA more	81.12(n)		BC043995.1
zebrafish (Danio rerio)	Actinopterygii	actn1¹	actinin, alpha 1	81.72(n) 93.81(a)		560400 NM_001168286.1 NP_001161758.1
fruit fly (Drosophila melanogaster)	Insecta	Actn^{1 , 3}	cytoskeletal anchoring actin binding³ alpha actinin¹	68(a)³ 70.79(n)¹ 70.37(a)¹		31166¹ NM_058137.4¹ NP_477485.1¹
worm (Caenorhabditis elegans)	Secernentea	atn-1¹	Protein ATN-1	59.47(n) 62.67(a)		179709 NM_073726.4 NP_506127.1

ENSEMBL Gene Tree for ACTN1 (if available)
TreeFam Gene Tree for ACTN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACTN1 gene

ACTN4² SPTBN2² SPTA1² SYNE2² SPTBN4² SPTBN1² SPTB² SPTBN5²

ACTN2² SPTAN1² SYNE1² CLMN²

18/32 SIMAP similar genes for ACTN1 using alignment to 14 protein entries: ACTN1_HUMAN (see all proteins) (see all similar genes):

MLL-ACTN4 ACTN4 ACTN2 ACTN3 UTRN DMD

CLMN EHBP1L1 MICAL3 PLEC MACF1 DST

HSpTB1 DIXDC1 NAV3 ACF7 FLNA SMTNL1

ACTN1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for ACTN1
PGOHUM00000259405 PGOHUM00000244676

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141628452^1,2	C	other	50288737(+)	`TCCGAG/AAGGGT`	6	/L	syn¹		1		NA	4552
rs80095531^1,2		--	49510503(+)	`GGTGGG/AGCCTG`	3	--	ds500¹		4		CSA WA NA EA	360
rs79940552^1,2	F,	--	49510710(+)	`TCAAGA/GAGTCC`	3	--	ds500¹		1		WA	118
rs12237^1,2	F	--	49511277(+)	`AGATAG/TAAGAA`	3	--	ut3¹		1		MN	184
rs113447035^1,2	C	--	49511814(+)	`GTTCTC/G/TCGAGG`	3	--	int¹		1		CSA	1
rs200194189^1,2	C	--	49512777(+)	`CTTTTG/TCTTCG`	3	--	int¹		0	--	--	--	--
rs8010669^1,2	C,F,	--	49512951(+)	`ACGCCC/TGGTTA`	3	--	int¹		4		NA CSA	8
rs78283847^1,2	F,	--	49513618(+)	`CACCCG/ATCATT`	3	--	int¹		1		WA	118
rs75219984^1,2	F,	--	49513781(+)	`GGGGCG/AGTTGA`	3	--	int¹		1		WA	118
rs75492284^1,2	F,	--	49514497(+)	`GATTTG/TAACTC`	3	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for ACTN1 (69340840 - 69446157 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACTN1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTN1

DNA2.0 Custom Variant and Variant Library Synthesis for ACTN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACTN1 for disorders           About GeneDecksing

OMIM gene information: 102575    OMIM disorders: --

20/29 diseases for ACTN1 (see all 29):    About MalaCards

limb-girdle muscular dystrophy soft tissue sarcoma hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy

muscular dystrophy sickle cell anemia systemic lupus erythematosus lupus erythematosus

macular degeneration dilated cardiomyopathy cardiomyopathy lipoma

wilms tumor hepatitis c anemia lung adenocarcinoma

sarcoma hepatocellular carcinoma endometriosis colon cancer

1 Novoseek disease relationship for ACTN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	5	18320066 (3)

Human Genome Epidemiology (HuGE) Navigator: ACTN1 (1 document)

Export disorders for ACTN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACTN1 gene, integrated from 9 sources (see all 165):
(articles sorted by number of sources associating them with ACTN1)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and chromosomal localization of the human cytoskeletal alpha- actinin gene reveals linkage to the beta-spectrin gene. (PubMed id 2349951)^{1, 2, 3} Youssoufian H.... Kwiatkowski D.J. (1990)
Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. (PubMed id 16464232)^{1, 2, 9} Kremerskothen J.... Barnekow A. (2006)
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. (PubMed id 18353764)^{1, 2} Thorsen K....Orntoft T.F. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
The lipoma preferred partner LPP interacts with alpha-actinin. (PubMed id 12615977)^{1, 2} 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)^{1, 2} Izaguirre G.... Haimovich B. (2001)
Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)^{1, 2} 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)^{1, 2} Salmikangas P....Carpen O. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 87	HGNC: 163	AceView: ACTN1	Ensembl:ENSG00000072110	euGenes: HUgn87
ECgene: ACTN1	Kegg: 87	H-InvDB: ACTN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACTN1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ACTN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ACTN1 gene:
Search GeneIP for patents involving ACTN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN1
	Browse Kits and Assays available from EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Small Molecules at EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for ACTN1		OriGene shRNA RFP for ACTN1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACTN1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACTN1
	OriGene Protein Over-expression Lysate for ACTN1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for ACTN1		OriGene 3'-UTR Clone for ACTN1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTN1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for ACTN1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for ACTN1		OriGene Custom Protein Services for ACTN1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACTN1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTN1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTN1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1

	GenScript Custom Purified and Recombinant Proteins Services for ACTN1		GenScript cDNA clones with any tag delivered in your preferred vector for ACTN1
	GenScript Custom Assay Services for ACTN1		GenScript Custom Superior Antibodies Services for ACTN1
	GenScript Custom overexpressing Cell Line Services for ACTN1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Antibodies & Assays for ACTN1

	Regulatory tfbs in ACTN1 promoter
	Search Chromatin IP Primers for ACTN1
	RT² qPCR Primer Assay in human, mouse, rat ACTN1
	GNC Network for ACTN1
	SABiosciences PCR Arrays including human, mouse, rat ACTN1

Search Tocris compounds for ACTN1

	Browse Sino Biological Proteins and Antibodies
	cDNA Clones for ACTN1
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	ACTN1 antibodies
	ACTN1 proteins
	ACTN1 lysates

	Antibodies for ACTN1
	See all of Abcam's Antibodies, Kits and Proteins for ACTN1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Recombinant Protein for ACTN1

ACTN1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for ACTN1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1

	SwitchGear 3'UTR luciferase reporter plasmids for ACTN1
	SwitchGear Promoter luciferase reporter plasmids for ACTN1

ThermoFisher Antibodies for ACTN1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ACTN1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

ACTN1 Gene

actinin, alpha 1

Aliases
for ACTN1 gene

Summaries
for ACTN1 gene

Genomic Views
for ACTN1 gene

Proteins
for ACTN1 gene

Protein Domains /
Families
for ACTN1 gene

Function
for ACTN1 gene

Pathways & Interactions
for ACTN1 gene

Drugs & Compounds
for ACTN1 gene

Transcripts
for ACTN1 gene

Expression
for ACTN1 gene

Orthologs
for ACTN1 gene

Paralogs
for ACTN1 gene

Genomic Variants
for ACTN1 gene

Disorders / Diseases
for ACTN1 gene

Publications
for ACTN1 gene

External Searches for ACTN1 gene

Genome Databases showing ACTN1 gene

Other Databases showing ACTN1 gene

Specialized Databases showing ACTN1 gene

Intellectual Property
for ACTN1 gene

Products
for ACTN1 gene

View Random Gene

Advanced Search

Export list of displayed genes

ACTN1 Gene

actinin, alpha 1

Aliasesfor ACTN1 gene

Summariesfor ACTN1 gene

Genomic Viewsfor ACTN1 gene

Proteinsfor ACTN1 gene

Protein Domains /Familiesfor ACTN1 gene

Functionfor ACTN1 gene

Pathways & Interactionsfor ACTN1 gene

Drugs & Compoundsfor ACTN1 gene

Transcriptsfor ACTN1 gene

Expression for ACTN1 gene

Orthologsfor ACTN1 gene

Paralogsfor ACTN1 gene

Genomic Variantsfor ACTN1 gene

Disorders / Diseasesfor ACTN1 gene

Publicationsfor ACTN1 gene

External Searches for ACTN1 gene

Genome Databases showing ACTN1 gene

Other Databases showing ACTN1 gene

Specialized Databases showing ACTN1 gene

Intellectual Propertyfor ACTN1 gene

Productsfor ACTN1 gene

View Random Gene

Aliases
for ACTN1 gene

Summaries
for ACTN1 gene

Genomic Views
for ACTN1 gene

Proteins
for ACTN1 gene

Protein Domains /
Families
for ACTN1 gene

Function
for ACTN1 gene

Pathways & Interactions
for ACTN1 gene

Drugs & Compounds
for ACTN1 gene

Transcripts
for ACTN1 gene

Expression
for ACTN1 gene

Orthologs
for ACTN1 gene

Paralogs
for ACTN1 gene

Genomic Variants
for ACTN1 gene

Disorders / Diseases
for ACTN1 gene

Publications
for ACTN1 gene

Intellectual Property
for ACTN1 gene

Products
for ACTN1 gene