InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DTNA

Summary

InnateDB Protein

IDBP-2364.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DTNA

Protein Name

dystrobrevin, alpha

Synonyms

D18S892E; DRP3; DTN; DTN-A; LVNC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000283365

InnateDB Gene

IDBG-2362 (DTNA)

Protein Structure

UniProt Annotation

Function

May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

Subcellular Localization

Cytoplasm. Cell junction, synapse. Cell membrane {ECO:0000250}. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. {ECO:0000250}.

Disease Associations

Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected. {ECO:0000269PubMed:11238270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0006941	striated muscle contraction
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0007274	neuromuscular synaptic transmission

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0030054	cell junction
GO:0043234	protein complex
GO:0045202	synapse

Protein Structure and Domains

PDB ID

InterPro

IPR000433 Zinc finger, ZZ-type
IPR015153 EF-hand domain, type 1
IPR015154 EF-hand domain, type 2
IPR017432 Distrobrevin

PFAM

PF00569
PF09068
PF09069

PRINTS

PIRSF

PIRSF038204

SMART

SM00291

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y4J8

PhosphoSite

PhosphoSite-Q9Y4J8

TrEMBL

M0R0C4

UniProt Splice Variant

Entrez Gene

1837

UniGene

Hs.714439

RefSeq

NP_116757

HUGO

HGNC:3057

OMIM

601239

CCDS

CCDS45848

HPRD

03141

IMGT

EMBL

AB209102 AC013290 AC022601 AC068506 AC103768 AJ009668 AK291156 AK294746 AK295732 AK295789 BC005300 BT006937 CH471088 U26742 U26743 U26744 U46744 U46745 U46746 U84529 U84530 U84531 U84532 U84533 U84534 U84535 U84536 U84537 U84538 U84539 U84540 U84541 U84542 U84543 U84544 U84545 U84546 U84547 U84548 U84549 U84550 U84551

GenPept

AAB58541 AAB58542 AAB58543 AAC50424 AAC50425 AAC50426 AAC50429 AAC50430 AAC50431 AAH05300 AAP35583 BAD92339 BAF83845 BAG57887 BAG58572 BAG58610 CAA08769 EAX01319 EAX01321 EAX01325 EAX01327 EAX01328 EAX01331