Gene Symbol | SNTA1 |
Entrez ID | 6640 |
Uniprot ID | Q13424 |
Description | syntrophin, alpha 1 |
Chromosomal Location | chr20: 33,407,955-33,443,892 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0002027 |
regulation of heart rate |
Any process that modulates the frequency or rate of heart contraction. |
IMP |
BP |
GO:0006936 |
muscle contraction |
A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
TAS |
BP |
GO:0060307 |
regulation of ventricular cardiac muscle cell membrane repolarization |
Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
IMP |
BP |
GO:0086005 |
ventricular cardiac muscle cell action potential |
An action potential that occurs in a ventricular cardiac muscle cell. |
IMP |
BP |
GO:1902083 |
negative regulation of peptidyl-cysteine S-nitrosylation |
Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-cysteine S-nitrosylation. |
IMP |
BP |
GO:1902305 |
regulation of sodium ion transmembrane transport |
Any process that modulates the frequency, rate or extent of sodium ion transmembrane transport. |
IMP |
CC |
GO:0005622 |
intracellular |
The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IEA |
CC |
GO:0005856 |
cytoskeleton |
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
IEA |
CC |
GO:0016013 |
syntrophin complex |
A protein complex that includes alpha-, beta1-, beta2-syntrophins and syntrophin-like proteins; the syntrophin complex binds to the second half of the carboxy-terminal domain of dystrophin; also associates with neuronal nitric oxide synthase. |
TAS |
CC |
GO:0016328 |
lateral plasma membrane |
The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
TAS |
CC |
GO:0030054 |
cell junction |
A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. |
IEA |
CC |
GO:0031594 |
neuromuscular junction |
The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
IEA |
CC |
GO:0042383 |
sarcolemma |
The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
IEA |
CC |
GO:0043234 |
protein complex |
A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical. |
IDA |
MF |
GO:0003779 |
actin binding |
Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments. |
IEA |
MF |
GO:0005198 |
structural molecule activity |
The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005516 |
calmodulin binding |
Interacting selectively and non-covalently with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
IEA |
MF |
GO:0017080 |
sodium channel regulator activity |
Modulates the activity of a sodium channel. |
IMP |
MF |
GO:0030165 |
PDZ domain binding |
Interacting selectively and non-covalently with a PDZ domain of a protein, a domain found in diverse signaling proteins. |
IEA |
MF |
GO:0044325 |
ion channel binding |
Interacting selectively and non-covalently with one or more specific sites on an ion channel, a protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient. |
IPI |
MF |
GO:0050998 |
nitric-oxide synthase binding |
Interacting selectively and non-covalently with the enzyme nitric-oxide synthase. |
IPI |
MF |
GO:0051117 |
ATPase binding |
Interacting selectively and non-covalently with an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
IPI |
Domain ID | Description |
---|---|
IPR001478 |
PDZ domain |
IPR001849 |
Pleckstrin homology domain |
IPR011993 |
PH domain-like |
IPR015482 |
Syntrophin |
IPR028552 |
Alpha-1-syntrophin |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
WP706 |
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0023976 |
Long Qt Syndrome |
C0035828 |
Romano-Ward Syndrome |
C0038220 |
Status Epilepticus |
Tissue | Cell Type |
---|---|
appendix |
glandular cells |
cerebral cortex |
endothelial cells |
colon |
glandular cells |
esophagus |
squamous epithelial cells |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
placenta |
trophoblastic cells |
rectum |
glandular cells |
soft tissue |
chondrocytes |
stomach |
glandular cells |
urinary bladder |
urothelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
NAT1 |
9 |
P18440 |
0.49 |
ADH5 |
128 |
P11766 |
0.49 |
ADRA2A |
150 |
P08913 |
0.49 |
ADRB1 |
153 |
P08588 |
0.49 |
AGTR2 |
186 |
P50052 |
0.49 |
ATP2B2 |
491 |
Q01814 |
0.49 |
ATP6V0B |
533 |
Q99437 |
0.49 |
ADGRB2 |
576 |
O60241 |
0.49 |
ADGRB3 |
577 |
O60242 |
0.49 |
C3AR1 |
719 |
Q16581 |
0.49 |
CD3E |
916 |
P07766 |
0.49 |
COPB1 |
1315 |
P53618 |
0.49 |
FABP1 |
2168 |
P07148 |
0.49 |
GOLGA2 |
2801 |
Q08379 |
0.49 |
PRLHR |
2834 |
P49683 |
0.49 |
GUCY1A2 |
2977 |
P33402 |
0.49 |
HTR2B |
3357 |
P41595 |
0.49 |
HTR2C |
3358 |
P28335 |
0.49 |
IL2RA |
3559 |
P01589 |
0.49 |
IL9 |
3578 |
P15248 |
0.49 |
ITGB5 |
3693 |
P18084 |
0.49 |
KCNA5 |
3741 |
P22460 |
0.49 |
KCNJ10 |
3766 |
P78508 |
0.49 |
KCNJ15 |
3772 |
Q99712 |
0.49 |
LMO1 |
4004 |
P25800 |
0.49 |
MAP4 |
4134 |
P27816 |
0.49 |
MAS1 |
4142 |
P04201 |
0.49 |
MCM7 |
4176 |
P33993 |
0.49 |
PFN2 |
5217 |
P35080 |
0.49 |
PSKH1 |
5681 |
P11801 |
0.49 |
SCTR |
6344 |
P47872 |
0.49 |
SLC1A7 |
6512 |
O00341 |
0.49 |
SLC2A3 |
6515 |
P11169 |
0.49 |
SLC6A3 |
6531 |
Q01959 |
0.49 |
SSTR1 |
6751 |
P30872 |
0.49 |
TRA |
6955 |
N/A |
0.49 |
MTMR2 |
8898 |
Q13614 |
0.49 |
SLC16A7 |
9194 |
O60669 |
0.49 |
GDA |
9615 |
Q9Y2T3 |
0.49 |
FAM189B |
10712 |
P81408 |
0.49 |
NMU |
10874 |
P48645 |
0.49 |
ADAMTS6 |
11174 |
Q9UKP5 |
0.49 |
TRBV12-3 |
28577 |
P01733 |
0.49 |
TLX3 |
30012 |
O43711 |
0.49 |
F8A1 |
474383 |
P23610 |
0.49 |
LOC100132941 |
100132941 |
N/A |
0.49 |
ACTA2 |
59 |
P62736 |
0.52 |
CALM2 |
805 |
P62158 |
0.52 |
CALM3 |
808 |
P62158 |
0.52 |
ABCC4 |
10257 |
O15439 |
0.56 |
XRCC6 |
2547 |
P12956 |
0.63 |
NEB |
4703 |
P20929 |
0.63 |
PLCB3 |
5331 |
Q01970 |
0.63 |
RYR2 |
6262 |
Q92736 |
0.63 |
TFAP2A |
7020 |
P05549 |
0.63 |
UBE2V2 |
7336 |
Q15819 |
0.63 |
STAM |
8027 |
Q92783 |
0.63 |
RGS11 |
8786 |
O94810 |
0.63 |
MAGEE1 |
57692 |
Q9HCI5 |
0.63 |
MED8 |
112950 |
Q96G25 |
0.63 |
SLC34A3 |
142680 |
Q8N130 |
0.63 |
GNAT3 |
346562 |
A8MTJ3 |
0.63 |
SCN1A |
6323 |
P35498 |
0.76 |
GLS |
2744 |
O94925 |
0.78 |
GRB2 |
2885 |
P62993 |
0.89 |
NOS1 |
4842 |
P29475 |
0.93 |
UTRN |
7402 |
P46939 |
0.93 |
SCN5A |
6331 |
Q14524 |
0.94 |
BAI1 |
575 |
O14514 |
0.49 |
CNKSR2 |
22866 |
Q8WXI2 |
0.52 |
KIF1B |
23095 |
O60333 |
0.52 |
KCNA4 |
3739 |
P22459 |
0.62 |
SCN4A |
6329 |
P35499 |
0.62 |
GLS2 |
27165 |
Q9UI32 |
0.62 |
MAST1 |
22983 |
Q9Y2H9 |
0.63 |
MLC1 |
23209 |
Q15049 |
0.63 |
EEF2K |
29904 |
O00418 |
0.63 |
SPZ1 |
84654 |
Q9BXG8 |
0.63 |
ADRA1D |
146 |
P25100 |
0.73 |
KCNJ12 |
3768 |
Q14500 |
0.74 |
TGFA |
7039 |
P01135 |
0.75 |
DGKZ |
8525 |
Q13574 |
0.75 |
MAPK12 |
6300 |
P53778 |
0.78 |
DTNB |
1838 |
O60941 |
0.79 |
KCNJ4 |
3761 |
P48050 |
0.82 |
ABCA1 |
19 |
O95477 |
0.84 |
DMD |
1756 |
P11532 |
0.97 |
DTNA |
1837 |
Q9Y4J8 |
0.99 |