ACTN1 - actinin alpha 1 Gene

Also Known as BDPLT15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 87

About ACTN1

Cytogenetic location: 14q24.1 Genomic coordinates (GRCh38): 14:68,874,128-68,979,302 (from NCBI)

This gene has 47 transcripts (splice variants), 212 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 77.5), urinary bladder (RPKM 66.3) and 24 other tissues.

Summary

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]

ACTN1 Products (5)

mRNA	Protein	Name
NM_001102.4	NP_001093.1	alpha-actinin-1 isoform b
NM_001130004.2	NP_001123476.1	alpha-actinin-1 isoform a
NM_001130005.2	NP_001123477.1	alpha-actinin-1 isoform c
NM_001411035.1	NP_001397964.1	alpha-actinin-1 isoform d
NM_001411036.1	NP_001397965.1	alpha-actinin-1 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	11223950	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	21266579	GOA
enables integrin binding	IDA IDA: Inferred from direct assay	7983147	GOA
enables integrin binding	IPI IPI: Inferred from physical interaction	11223950	GOA
enables nuclear receptor coactivator activity	IDA IDA: Inferred from direct assay	22351778	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10753915	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11223950	GOA
enables structural constituent of postsynapse	IDA IDA: Inferred from direct assay	29429936	GOA
enables structural constituent of postsynapse	IMP IMP: Inferred from mutant phenotype	29429936	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	17944866	GOA
enables vinculin binding	IDA IDA: Inferred from direct assay	11223950	GOA
enables vinculin binding	IPI IPI: Inferred from physical interaction	15988023	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament network formation	IMP IMP: Inferred from mutant phenotype	24069336	GOA
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	23434115	GOA
involved in focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	16807302	GOA
NOT involved in platelet activation	IMP IMP: Inferred from mutant phenotype	24069336	GOA
NOT involved in platelet aggregation	IMP IMP: Inferred from mutant phenotype	23434115	GOA
involved in platelet formation	IMP IMP: Inferred from mutant phenotype	23434115	GOA
involved in platelet morphogenesis	IMP IMP: Inferred from mutant phenotype	23434115	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	7750553	GOA
colocalizes with actin filament	IDA IDA: Inferred from direct assay	23434115	GOA
located in cell projection	IDA IDA: Inferred from direct assay	16464232	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	11223950	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16464232	GOA
located in focal adhesion	IDA IDA: Inferred from direct assay	11223950	GOA
located in focal adhesion	IMP IMP: Inferred from mutant phenotype	16807302	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	29429936	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	29429936	GOA
located in ruffle	IDA IDA: Inferred from direct assay	11223950	GOA
located in stress fiber	IDA IDA: Inferred from direct assay	11223950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTN1 Protein Structure

Spectrin

EF-hand_6

EFhand_Ca_insen

0
200
400
600
800
892 a.a.

Protein Preferred Names	Protein Names
alpha-actinin-1	F-actin cross-linking protein

ACTN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACTN1	P12814	b2r8y4_human	Homo sapiens	B2R8Y4	Y2H Array	25416956
Intra	ACTN1	P12814	CACNA1C	Homo sapiens	Q13936	Anti Tag CoIP	21653829
Intra	ACTN1	P12814	CACNA1C	Homo sapiens	Q13936	Y2H Pooling	21653829
Intra	ACTN1	P12814	EIF2S1	Homo sapiens	P05198	Y2H Array	32296183
Intra	ACTN1	P12814	EIF2S1	Homo sapiens	P05198	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	ARX	Homo sapiens	Q96QS3	Y2H Pooling	21653829
Intra	ACTN1	P12814	ARX	Homo sapiens	Q96QS3	Anti Tag CoIP	21653829
Intra	ACTN1	P12814	DYNLT1	Homo sapiens	P63172	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	DYNLT1	Homo sapiens	P63172	Validated Y2H	32296183
Intra	ACTN1	P12814	DYNLT1	Homo sapiens	P63172	Y2H Array	32296183
Intra	ACTN1	P12814	SYNPO2L	Homo sapiens	Q9H987-2	Validated Y2H	32296183
Intra	ACTN1	P12814	SHANK3	Homo sapiens	Q9BYB0	Anti Tag CoIP	21653829
Intra	ACTN1	P12814	SHANK3	Homo sapiens	Q9BYB0	Y2H Pooling	21653829
Intra	ACTN1	P12814	KCTD6	Homo sapiens	Q8NC69	Validated Y2H	25416956
Intra	ACTN1	P12814	MICALL2	Homo sapiens	Q8IY33	Validated Y2H	32296183
Intra	ACTN1	P12814	MICALL2	Homo sapiens	Q8IY33	Y2H Array	25416956
Intra	ACTN1	P12814	ACTN3	Homo sapiens	Q08043	Validated Y2H	32296183
Intra	ACTN1	P12814	ACTN3	Homo sapiens	Q08043	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	ACTN3	Homo sapiens	Q08043	Y2H Array	32296183
Intra	ACTN1	P12814	SYNPO	Homo sapiens	Q8N3V7	Crosslink	30021884
Intra	ACTN1	P12814	PDLIM4	Homo sapiens	P50479	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	PDLIM4	Homo sapiens	P50479	Validated Y2H	32296183
Intra	ACTN1	P12814	PDLIM4	Homo sapiens	P50479	Y2H Array	32296183
Intra	ACTN1	P12814	NKAPD1	Homo sapiens	Q6ZUT1	Validated Y2H	32296183
Intra	ACTN1	P12814	OAS1	Homo sapiens	P00973	Y2H Array	25416956
Intra	ACTN1	P12814	OAS1	Homo sapiens	P00973	Y2H Array	31515488
Intra	ACTN1	P12814	OAS1	Homo sapiens	P00973	Y2H Prey Pooling	25416956
Intra	ACTN1	P12814	TXN	Homo sapiens	P10599	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	TXN	Homo sapiens	P10599	Y2H Array	32296183
Intra	ACTN1	P12814	SRC	Homo sapiens	P12931	Pull Down	16291744
Intra	ACTN1	P12814	EPM2AIP1	Homo sapiens	Q7L775	Y2H Prey Pooling	25416956
Intra	ACTN1	P12814	EPM2AIP1	Homo sapiens	Q7L775	Validated Y2H	25416956
Intra	ACTN1	P12814	EPM2AIP1	Homo sapiens	Q7L775	Validated Y2H	32296183
Cross	ACTN1	P12814	Ssx2ip	Mus musculus	Q8VC66	Pull Down	12446711
Cross	ACTN1	P12814	Ssx2ip	Mus musculus	Q8VC66	Anti Tag CoIP	12446711
Intra	ACTN1	P12814	TTN	Homo sapiens	Q8WZ42	Pull Down	11101506
Intra	ACTN1	P12814	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	ACTN1	P12814	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	ACTN1	P12814	CBY2	Homo sapiens	Q8NA61	Y2H Array	25416956
Intra	ACTN1	P12814	APPBP2	Homo sapiens	Q92624	Validated Y2H	32296183
Intra	ACTN1	P12814	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	ACTN1	P12814	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	ACTN1	P12814	MYOZ1	Homo sapiens	Q9NP98	Y2H Pooling	16189514
Intra	ACTN1	P12814	MYOZ1	Homo sapiens	Q9NP98	Validated Y2H	32296183
Intra	ACTN1	P12814	MYOZ2	Homo sapiens	Q9NPC6	Y2H Prey Pooling	25416956
Intra	ACTN1	P12814	MYOZ2	Homo sapiens	Q9NPC6	Validated Y2H	25416956
Intra	ACTN1	P12814	MYOZ2	Homo sapiens	Q9NPC6	Validated Y2H	32296183
Intra	ACTN1	P12814	MYOZ2	Homo sapiens	Q9NPC6	Y2H Array	25416956
Cross	ACTN1	P12814	P27958-PRO_0000037577	Hepatitis C virus	P27958-PRO_0000037577	Y2H	14623081
Cross	ACTN1	P12814	P27958-PRO_0000037577	Hepatitis C virus	P27958-PRO_0000037577	Anti Bait CoIP	14623081

Cross: Cross-species interaction Intra: Intraspecies interaction

ACTN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83762	alpha Actinin Antibody(YA3561)	WB, IHC-P, ICC/IF, FC	Human, Rat
HY-P85757	alpha Actinin Antibody (YA5449)	WB, IHC-P, ICC/IF	Human, Rat, Mouse

Related Diseases

Diseases	Alias
Bleeding Disorder, Platelet-Type, 15	BDPLT15 Platelet-Type Bleeding Disorder 15 Autosomal Dominant Macrothrombocytopenia Actn1-Related Macrothrombocytopenia, Autosomal Dominant, Actn1-Related Bleeding Disorder, Platelet Type 15
Autosomal Dominant Macrothrombocytopenia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Myh-9 Related Disease	Myh9-Related Disease Myh9-Rd Myh9-Related Disorder Myh9-Related Syndrome Myh9-Related Syndromic Thrombocytopenia Sebastian Syndrome
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Sialuria	Sialuria, French Type French Type Sialuria Sialuria French Type Sialic Acid Storage Disease Sialic Acid Storage Disease, Finnish Type Infantile Sialic Acid Storage Disease
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1728	Super-TDU (1-31)	Inhibitor	/	Unkown
HY-P1728A	Super-TDU (1-31) TFA	Inhibitor	99.27%	Unkown
HY-RS00223	ACTN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17075	Actn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23519	Actn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACTN1	VGNC	VGNC:59551
Mus musculus	ACTN1	MGD	MGI:2137706
Bos taurus	ACTN1	VGNC	VGNC:25581
Macaca mulatta	ACTN1	VGNC	VGNC:69423
Rattus norvegicus	ACTN1	RGD	RGD:70907
Canis familiaris	ACTN1	VGNC	VGNC:37548
Others	ACTN1	NCBI