Gene Symbol | ACTC1 |
Entrez ID | 70 |
Uniprot ID | P68032 |
Description | actin, alpha, cardiac muscle 1 |
Chromosomal Location | chr15: 34,788,096-34,796,139 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006915 |
apoptotic process |
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
ISS |
BP |
GO:0010628 |
positive regulation of gene expression |
Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
ISS |
BP |
GO:0030048 |
actin filament-based movement |
Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
IDA |
BP |
GO:0030049 |
muscle filament sliding |
The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
TAS |
BP |
GO:0030240 |
skeletal muscle thin filament assembly |
The aggregation, arrangement and bonding together of proteins to form the actin-based thin filaments of myofibrils in skeletal muscle. |
ISS |
BP |
GO:0031032 |
actomyosin structure organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
ISS |
BP |
GO:0033275 |
actin-myosin filament sliding |
The sliding movement of actin thin filaments and myosin thick filaments past each other. |
IMP |
BP |
GO:0042493 |
response to drug |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. |
IEA |
BP |
GO:0043066 |
negative regulation of apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
IEA |
BP |
GO:0045471 |
response to ethanol |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
IEA |
BP |
GO:0055003 |
cardiac myofibril assembly |
The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. |
ISS |
BP |
GO:0055008 |
cardiac muscle tissue morphogenesis |
The process in which the anatomical structures of cardiac muscle tissue are generated and organized. |
ISS |
BP |
GO:0060047 |
heart contraction |
The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
IMP |
BP |
GO:0060048 |
cardiac muscle contraction |
Muscle contraction of cardiac muscle tissue. |
IEA |
BP |
GO:0090131 |
mesenchyme migration |
The process in which the population of cells that make up a mesenchyme undergo directed movement. |
ISS |
CC |
GO:0005615 |
extracellular space |
That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
CC |
GO:0005884 |
actin filament |
A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
IDA |
CC |
GO:0005925 |
focal adhesion |
Small region on the surface of a cell that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. |
IDA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0030017 |
sarcomere |
The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
IDA |
CC |
GO:0030027 |
lamellipodium |
A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
ISS |
CC |
GO:0030175 |
filopodium |
Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
ISS |
CC |
GO:0031674 |
I band |
A region of a sarcomere that appears as a light band on each side of the Z disc, comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end. |
ISS |
CC |
GO:0042643 |
actomyosin, actin portion |
The actin part of any complex of actin, myosin, and accessory proteins. |
IDA |
CC |
GO:0044297 |
cell body |
The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
ISS |
CC |
GO:0070062 |
extracellular exosome |
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
IDA |
CC |
GO:0072562 |
blood microparticle |
A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
IDA |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IDA |
MF |
GO:0016887 |
ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction. |
IDA |
MF |
GO:0017022 |
myosin binding |
Interacting selectively and non-covalently with any part of a myosin complex; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments. |
IDA|IPI |
Domain ID | Description |
---|---|
IPR004000 |
Actin family |
IPR004001 |
Actin, conserved site |
IPR020902 |
Actin/actin-like conserved site |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04260 |
Cardiac muscle contraction |
KEGG |
hsa04261 |
Adrenergic signaling in cardiomyocytes |
KEGG |
hsa05410 |
Hypertrophic cardiomyopathy (HCM) |
KEGG |
hsa05414 |
Dilated cardiomyopathy |
KEGG |
WP289 |
Myometrial Relaxation and Contraction Pathways |
WikiPathways |
WP383 |
Striated Muscle Contraction |
WikiPathways |
WP2406 |
Cardiac Progenitor Differentiation |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0007193 |
Cardiomyopathy, Dilated |
C0032927 |
Precancerous Conditions |
C0034951 |
Refractive Errors |
C0038356 |
Stomach Neoplasms |
C0344724 |
Ostium Secundum Atrial Septal Defect |
Tissue | Cell Type |
---|---|
heart muscle |
myocytes |
smooth muscle |
smooth muscle cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
12734205 |
Wood et al. |
2003 |
The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
TPM1 |
7168 |
P09493 |
0.49 |
VCL |
7414 |
P18206 |
0.49 |
MYH10 |
4628 |
P35580 |
0.56 |
CAPN1 |
823 |
P07384 |
0.63 |
PDCD6IP |
10015 |
Q8WUM4 |
0.63 |
BCL11A |
53335 |
Q9H165 |
0.63 |
SLC4A1 |
6521 |
P02730 |
0.65 |
MPC1 |
51660 |
Q9Y5U8 |
0.49 |
DMTN |
2039 |
Q08495 |
0.52 |
HSPB1 |
3315 |
P04792 |
0.52 |
PRKCE |
5581 |
Q02156 |
0.52 |
TWF1 |
5756 |
Q12792 |
0.52 |
DYNLL1 |
8655 |
P63167 |
0.52 |
KPTN |
11133 |
Q9Y664 |
0.52 |
SYNE1 |
23345 |
Q8NF91 |
0.52 |
SCIN |
85477 |
Q9Y6U3 |
0.52 |
ABRA |
137735 |
Q8N0Z2 |
0.52 |
KLHL17 |
339451 |
Q6TDP4 |
0.52 |
MYLK |
4638 |
Q15746 |
0.55 |
ACTA2 |
59 |
P62736 |
0.56 |
GRB2 |
2885 |
P62993 |
0.56 |
SUN2 |
25777 |
Q9UH99 |
0.56 |
DMD |
1756 |
P11532 |
0.62 |
GC |
2638 |
P02774 |
0.62 |
FSCN1 |
6624 |
Q16658 |
0.62 |
EZR |
7430 |
P15311 |
0.62 |
WAS |
7454 |
P42768 |
0.62 |
WIPF1 |
7456 |
O43516 |
0.62 |
ACTR2 |
10097 |
P61160 |
0.62 |
ACTN4 |
81 |
O43707 |
0.63 |
CAPZA2 |
830 |
P47755 |
0.63 |
GAPDH |
2597 |
P04406 |
0.63 |
HSPB2 |
3316 |
Q16082 |
0.63 |
HTR7 |
3363 |
P34969 |
0.63 |
ITGA4 |
3676 |
P13612 |
0.63 |
MAGOH |
4116 |
P61326 |
0.63 |
MCM2 |
4171 |
P49736 |
0.63 |
MYBPC3 |
4607 |
Q14896 |
0.63 |
PPP1CB |
5500 |
P62140 |
0.63 |
SMARCA4 |
6597 |
P51532 |
0.63 |
SUMO3 |
6612 |
P55854 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
SP1 |
6667 |
P08047 |
0.63 |
TADA2A |
6871 |
O75478 |
0.63 |
VCAM1 |
7412 |
P19320 |
0.63 |
UBL4A |
8266 |
P11441 |
0.63 |
ASH2L |
9070 |
Q9UBL3 |
0.63 |
LATS1 |
9113 |
O95835 |
0.63 |
EIF4A3 |
9775 |
P38919 |
0.63 |
PAN2 |
9924 |
Q504Q3 |
0.63 |
CD2AP |
23607 |
Q9Y5K6 |
0.63 |
SH3KBP1 |
30011 |
Q96B97 |
0.63 |
TNNI3K |
51086 |
Q59H18 |
0.63 |
UCHL5 |
51377 |
Q9Y5K5 |
0.63 |
LIMA1 |
51474 |
Q9UHB6 |
0.63 |
CCDC8 |
83987 |
Q9H0W5 |
0.63 |
TRIM63 |
84676 |
Q969Q1 |
0.63 |
C1QTNF9 |
338872 |
P0C862 |
0.63 |
MYO18A |
399687 |
Q92614 |
0.63 |
LASP1 |
3927 |
Q14847 |
0.65 |
MIB2 |
142678 |
Q96AX9 |
0.65 |
ANG |
283 |
P03950 |
0.67 |
ACTB |
60 |
P60709 |
0.68 |
CFL1 |
1072 |
P23528 |
0.70 |
MYH9 |
4627 |
P35579 |
0.70 |
ARRB2 |
409 |
P32121 |
0.72 |
DAPK1 |
1612 |
P53355 |
0.72 |
MYC |
4609 |
P01106 |
0.72 |
AATK |
9625 |
Q6ZMQ8 |
0.72 |
KLHL2 |
11275 |
O95198 |
0.72 |
TRAF3IP1 |
26146 |
Q8TDR0 |
0.72 |
SUMO1 |
7341 |
P63165 |
0.73 |
ABLIM3 |
22885 |
O94929 |
0.74 |
ESR1 |
2099 |
P03372 |
0.78 |
SYNE2 |
23224 |
Q8WXH0 |
0.85 |
AFAP1 |
60312 |
Q8N556 |
0.85 |