ACTN1 - actinin alpha 1 Gene

Homo sapiens

Also known as BDPLT15

Gene ID: 87 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (3)

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

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