Actc1 (actin alpha cardiac muscle 1)

Gene: Actc1 (actin alpha cardiac muscle 1) Ictidomys tridecemlineatus

Analyze

Symbol:

Actc1

Name:

actin alpha cardiac muscle 1

RGD ID:

12502270

Description:

ENCODES a protein that exhibits ATP binding (inferred); microfilament motor activity (inferred); myosin binding (inferred); INVOLVED IN actin-mediated cell contraction (ortholog); actomyosin structure organization (ortholog); cardiac muscle contraction (ortholog); ASSOCIATED WITH arthrogryposis multiplex congenita (ortholog); atrial heart septal defect (ortholog); atrial heart septal defect 5 (ortholog); FOUND IN cell body (ortholog); cytoplasm (ortholog); filopodium (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

actin, alpha cardiac muscle 1; actin, alpha, cardiac muscle 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	81,053,582 - 81,059,040 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936673	1,092,717 - 1,100,331 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936673	1,092,700 - 1,098,256 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

arthrogryposis multiplex congenita (ISO)

atrial heart septal defect (ISO)

atrial heart septal defect 5 (ISO)

Bloom syndrome (ISO)

cardiomyopathy (ISO)

colorectal cancer (ISO)

dilated cardiomyopathy (ISO)

dilated cardiomyopathy 1A (ISO)

dilated cardiomyopathy 1R (ISO)

Dilated Cardiomyopathy with Left Ventricular Noncompaction (ISO)

Endotoxemia (ISO)

familial hypertrophic cardiomyopathy (ISO)

genetic disease (ISO)

hypertension (ISO)

hypertrophic cardiomyopathy (ISO)

hypertrophic cardiomyopathy 1 (ISO)

hypertrophic cardiomyopathy 11 (ISO)

Left Ventricular Noncompaction 1 (ISO)

pre-malignant neoplasm (ISO)

refractive error (ISO)

restrictive cardiomyopathy (ISO)

Stomach Neoplasms (ISO)

Wolff-Parkinson-White syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin filament organization (IEA)

actin filament-based movement (IEA)

actin-mediated cell contraction (IEA,ISO)

actin-myosin filament sliding (IEA)

actomyosin structure organization (IEA,ISO)

cardiac muscle contraction (ISO)

cardiac muscle tissue morphogenesis (IEA,ISO)

cardiac myofibril assembly (IEA,ISO)

cellular response to type II interferon (IEA)

heart contraction (IEA)

mesenchyme migration (ISS)

negative regulation of apoptotic process (IEA,ISO)

positive regulation of gene expression (ISS)

postsynaptic actin cytoskeleton organization (IEA)

regulation of synaptic vesicle endocytosis (IEA)

response to ethanol (ISO)

response to xenobiotic stimulus (ISO)

sarcomere organization (IEA)

skeletal muscle thin filament assembly (IEA,ISO)

Cellular Component

actin cytoskeleton (IEA)

actin filament (IEA)

apical part of cell (IEA)

basal body patch (IEA)

calyx of Held (IEA)

cell body (ISS)

cytoplasm (IEA,ISS)

filamentous actin (IEA)

filopodium (ISS)

glutamatergic synapse (IEA,ISO)

I band (IEA)

lamellipodium (ISS)

myofibril (IEA)

phagocytic vesicle (IEA)

sarcomere (IEA)

Schaffer collateral - CA1 synapse (IEA)

synapse (IEA,ISO)

Molecular Function

ATP binding (IEA)

microfilament motor activity (IEA)

myosin binding (IEA)

protein binding (ISO)

structural constituent of cytoskeleton (IEA)

structural constituent of postsynaptic actin cytoskeleton (IEA)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Actc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	81,053,582 - 81,059,040 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936673	1,092,717 - 1,100,331 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936673	1,092,700 - 1,098,256 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACTC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	34,790,230 - 34,795,549 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	34,790,107 - 34,795,589 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	35,082,431 - 35,087,750 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	32,867,589 - 32,875,219 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	32,869,723 - 32,875,153	NCBI
Celera	15	11,839,644 - 11,847,274 (-)	NCBI		Celera
Cytogenetic Map	15	q14	ENTREZGENE
HuRef	15	11,925,790 - 11,933,402 (-)	NCBI		HuRef
CHM1_1	15	35,198,283 - 35,205,917 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	32,595,427 - 32,600,746 (-)	NCBI		T2T-CHM13v2.0

Actc1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	113,877,763 - 113,883,356 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	113,877,763 - 113,884,029 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	114,047,282 - 114,052,875 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	114,047,282 - 114,053,548 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	113,873,025 - 113,878,547 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	113,738,730 - 113,744,252 (-)	NCBI		MGSCv36	mm8
Celera	2	115,178,495 - 115,181,826 (-)	NCBI		Celera
Cytogenetic Map	2	E4	NCBI
cM Map	2	57.55	NCBI

Actc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	121,266,291 - 121,271,827 (-)	NCBI		GRCr8
mRatBN7.2	3	100,811,987 - 100,817,523 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	100,811,987 - 100,817,523 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	104,444,093 - 104,449,627 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	113,043,134 - 113,048,668 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	110,726,488 - 110,732,015 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	105,507,403 - 105,512,939 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	105,507,403 - 105,512,939 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	112,080,853 - 112,086,389 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	99,901,022 - 99,906,558 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	99,797,449 - 99,798,402 (-)	NCBI
Celera	3	99,781,510 - 99,787,044 (-)	NCBI		Celera
Cytogenetic Map	3	q35	NCBI

Actc1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955416	2,137,101 - 2,145,416 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955416	2,139,541 - 2,144,678 (-)	NCBI	ChiLan1.0	ChiLan1.0

LOC100987752
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	16	24,005,887 - 24,013,787 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	28,151,250 - 28,162,184 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	13,707,475 - 13,712,905 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	31,966,278 - 31,971,782 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	31,966,278 - 31,971,782 (-)	Ensembl	panpan1.1		panPan2

ACTC1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	2,514,825 - 2,519,398 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	2,514,824 - 2,519,382 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	2,565,508 - 2,570,605 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	2,629,472 - 2,634,566 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	2,629,472 - 2,634,456 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	2,564,616 - 2,569,707 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	2,663,927 - 2,669,017 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	2,792,736 - 2,797,835 (-)	NCBI		UU_Cfam_GSD_1.0

ACTC1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	136,281,167 - 136,286,547 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	136,281,119 - 136,286,551 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	152,412,178 - 152,417,610 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACTC1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	26	48,105,271 - 48,110,670 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	48,105,216 - 48,110,896 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	92,799,132 - 92,804,294 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Actc1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624804	2,005,997 - 2,011,023 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624804	2,006,439 - 2,011,809 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005337129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010003700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000024852 ⟹ ENSSTOP00000019133

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936673	1,092,717 - 1,100,331 (+)	Ensembl

RefSeq Acc Id:

XM_005337129 ⟹ XP_005337186

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024408640	81,053,582 - 81,059,040 (-)	NCBI
SpeTri2.0	NW_004936673	1,092,700 - 1,098,256 (+)	NCBI

Sequence:

show sequence

TTTGGCCATTCTTCTGGCTGCCCCCTCCCCTTCCTTACATGGTCTGGGAACCCCCTGGCTGATC
CTCTCCCCTGCCCTTGCCTCCATGAATGGCCTCGGCGGTCCTGGATGGTGCTAAGGCGACCAAA
TAAGGCAAGGTGGCAGACCGGGCCCCCCACCCCTGCCCCCGGTGGCTCCAACTGACCCCGTCCA
TCAGCGCGCTATAAAGCTGCGCTCCTGGCGCCTGCACCCAGAGCCTGCCGCCGCCTGAGCCGAG
CCCAGCCGAGCCCAGCCGAGCCGCGGACGACCCCGCTGAAGCTGTGCCAAGATGTGCGACGACG
AGGAGACCACTGCTTTGGTGTGCGACAATGGCTCAGGGCTGGTGAAGGCCGGCTTCGCAGGCGA
TGATGCGCCCCGCGCTGTCTTCCCATCAATTGTGGGCCGCCCACGCCACCAGGGAGTCATGGTG
GGTATGGGGCAGAAGGATTCCTATGTAGGCGATGAAGCCCAGAGCAAGCGAGGTATCCTGACTC
TGAAGTACCCCATTGAGCATGGCATCATCACCAACTGGGATGACATGGAGAAGATCTGGCACCA
CACCTTCTACAATGAGCTCCGCGTGGCCCCTGAGGAGCACCCCACCCTGCTCACTGAGGCCCCA
CTCAACCCCAAGGCCAACCGTGAGAAGATGACCCAGATCATGTTTGAGACCTTCAATGTCCCTG
CCATGTACGTGGCCATCCAAGCGGTGCTGTCCCTGTATGCTTCTGGCCGAACCACAGGCATTGT
TCTGGACTCTGGGGATGGCGTAACCCACAATGTCCCCATCTATGAGGGCTATGCTTTGCCCCAT
GCCATCATGCGTCTGGACCTGGCTGGTCGGGATCTCACTGACTACCTCATGAAGATCCTCACTG
AGCGTGGTTACTCCTTTGTCACCACTGCTGAACGTGAAATTGTCCGTGACATCAAAGAAAAACT
GTGTTATGTCGCCCTGGACTTTGAGAATGAGATGGCCACGGCTGCCTCTTCTTCCTCCCTGGAG
AAGAGCTATGAACTACCTGACGGCCAAGTCATCACTATTGGCAACGAGCGTTTCCGCTGCCCTG
AGACGCTCTTCCAGCCCTCTTTCATTGGCATGGAATCTGCTGGCATCCATGAAACTACTTACAA
TAGTATCATGAAGTGTGACATTGATATCCGTAAAGACCTGTATGCCAACAACGTCTTATCTGGA
GGCACCACCATGTACCCTGGTATTGCAGATCGTATGCAAAAGGAAATCACTGCTCTGGCTCCTA
GCACCATGAAAATCAAGATTATTGCTCCCCCTGAACGTAAATACTCTGTCTGGATCGGGGGCTC
CATCCTGGCCTCTCTGTCCACCTTCCAACAGATGTGGATTAGCAAGCAAGAGTATGATGAGGCA
GGCCCATCCATTGTCCATCGCAAATGCTTCTAAGGTGCCTTCTCTCTTAGTTTCTCTTACATTC
AGGATGACAGTATTATGCTTCTTGGAATCTTCCAAACCACCCTTCCTCATCTCTCATCAATCAT
TGTACAGTTTGTTTACACACGTGCAGTTTGTTTGTGCTTCTAATATTTATTGCTTTATAAATAA
AACAGACCAGGACTTGCAACCTACAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005337186	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000006131.3
	ENSSTOP00000019133.1
GenBank Protein	KAG3261573	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_005337186 ⟸ XM_005337129

- UniProtKB:

I3N437 (UniProtKB/TrEMBL), I3M8N5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKR
GILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFET
FNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLM
KILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNER
FRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF

hide sequence

RefSeq Acc Id:

ENSSTOP00000019133 ⟸ ENSSTOT00000024852

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000006868	UniProtKB/TrEMBL
	ENSSTOG00000028670	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000006858.3	UniProtKB/TrEMBL
	ENSSTOT00000024852.2	UniProtKB/TrEMBL
Gene3D-CATH	3.30.420.40	UniProtKB/TrEMBL
InterPro	Actin	UniProtKB/TrEMBL
	Actin/actin-like_CS	UniProtKB/TrEMBL
	Actin_CS	UniProtKB/TrEMBL
	ATPase_NBD	UniProtKB/TrEMBL
NCBI Gene	Actc1	ENTREZGENE
PANTHER	ACTIN, ALPHA CARDIAC MUSCLE 1	UniProtKB/TrEMBL
	ACTIN, CYTOPLASMIC 2	UniProtKB/TrEMBL
	PTHR11937	UniProtKB/TrEMBL
Pfam	Actin	UniProtKB/TrEMBL
PRINTS	ACTIN	UniProtKB/TrEMBL
PROSITE	ACTINS_1	UniProtKB/TrEMBL
	ACTINS_2	UniProtKB/TrEMBL
	ACTINS_ACT_LIKE	UniProtKB/TrEMBL
SMART	ACTIN	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53067	UniProtKB/TrEMBL
UniProt	I3M8N5	ENTREZGENE, UniProtKB/TrEMBL
	I3N437	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-15	Actc1	actin alpha cardiac muscle 1		actin, alpha, cardiac muscle 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM