Gene Symbol | DTNA |
Entrez ID | 1837 |
Uniprot ID | Q9Y4J8 |
Description | dystrobrevin alpha |
Chromosomal Location | chr18: 34,493,290-34,891,844 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006941 |
striated muscle contraction |
A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. 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. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. |
TAS |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
TAS |
BP |
GO:0007268 |
chemical synaptic transmission |
The vesicular release of classical neurotransmitter molecules from a neuron, across a chemical synapse, the subsequent activation of neurotransmitter receptors of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
TAS |
BP |
GO:0007274 |
neuromuscular synaptic transmission |
The process of communication from a neuron to a muscle, across a synapse. |
TAS |
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: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:0030424 |
axon |
The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
IEA |
CC |
GO:0031234 |
extrinsic component of cytoplasmic side of plasma membrane |
The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
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 |
CC |
GO:0045202 |
synapse |
The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
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:0008270 |
zinc ion binding |
Interacting selectively and non-covalently with zinc (Zn) ions. |
IEA |
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 |
Domain ID | Description |
---|---|
IPR000433 |
Zinc finger, ZZ-type |
IPR011992 |
EF-hand domain pair |
IPR015153 |
EF-hand domain, type 1 |
IPR015154 |
EF-hand domain, type 2 |
IPR015866 |
Serine-tRNA synthetase, type1, N-terminal |
IPR017432 |
Distrobrevin |
UMLS CUI | UMLS Term |
---|---|
C0025281 |
Meniere Disease |
Tissue | Cell Type |
---|---|
cerebral cortex |
endothelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
19141487 |
Kenigsberg et al. |
2009 |
Gene expression microarray profiles of cumulus cells in lean and overweightobese polycystic ovary syndrome patients |
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
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 |
---|---|---|---|
MYO1E |
4643 |
Q12965 |
0.49 |
PSEN1 |
5663 |
P49768 |
0.49 |
SRC |
6714 |
P12931 |
0.49 |
SEC24C |
9632 |
P53992 |
0.49 |
SEC23A |
10484 |
Q15436 |
0.49 |
NUP62 |
23636 |
P37198 |
0.49 |
ACTA1 |
58 |
P68133 |
0.55 |
ACTB |
60 |
P60709 |
0.63 |
NMT1 |
4836 |
P30419 |
0.63 |
STAT3 |
6774 |
P40763 |
0.63 |
TJP1 |
7082 |
Q07157 |
0.63 |
GFI1B |
8328 |
Q5VTD9 |
0.63 |
SAR1A |
56681 |
Q9NR31 |
0.63 |
POTEI |
653269 |
P0CG38 |
0.63 |
SNTB2 |
6645 |
Q13425 |
0.68 |
SNTB1 |
6641 |
Q13884 |
0.87 |
DRP2 |
1821 |
Q13474 |
0.88 |
UTRN |
7402 |
P46939 |
0.96 |
DMD |
1756 |
P11532 |
0.99 |
SNTA1 |
6640 |
Q13424 |
0.99 |
ADRA1D |
146 |
P25100 |
0.63 |
CBX1 |
10951 |
P83916 |
0.63 |
MLC1 |
23209 |
Q15049 |
0.63 |
APPL1 |
26060 |
Q9UKG1 |
0.63 |
FYCO1 |
79443 |
Q9BQS8 |
0.63 |
SPZ1 |
84654 |
Q9BXG8 |
0.63 |
SGF29 |
112869 |
Q96ES7 |
0.63 |
SNTG1 |
54212 |
Q9NSN8 |
0.67 |
SNTG2 |
54221 |
Q9NY99 |
0.67 |
SYNC |
81493 |
Q9H7C4 |
0.74 |
MARK2 |
2011 |
Q7KZI7 |
0.76 |
DTNBP1 |
84062 |
Q96EV8 |
0.83 |
KCNJ12 |
3768 |
Q14500 |
0.84 |
SYNM |
23336 |
O15061 |
0.88 |