Protein Description

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

No pathways found.

UMLS CUI UMLS Term

C0025281

Meniere Disease

Tissue Cell Type

cerebral cortex

endothelial cells

No databases found.

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