InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANKRD1

Summary

InnateDB Protein

IDBP-82207.5

Last Modified

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

Gene Symbol

ANKRD1

Protein Name

ankyrin repeat domain 1 (cardiac muscle)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000360762

InnateDB Gene

IDBG-82205 (ANKRD1)

Protein Structure

UniProt Annotation

Function

May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. {ECO:0000269PubMed:15805281, ECO:0000269PubMed:7730328}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:15805281, ECO:0000269PubMed:7730328}.

Disease Associations

Total anomalous pulmonary venous return (TAPVR) [MIM:106700]: Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births. {ECO:0000269PubMed:18273862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO:0000269PubMed:15805281, ECO:0000269PubMed:7730328}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001085	RNA polymerase II transcription factor binding
GO:0001105	RNA polymerase II transcription coactivator activity
GO:0002039	p53 binding
GO:0003677	DNA binding
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0031432	titin binding
GO:0042826	histone deacetylase binding
GO:0070412	R-SMAD binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0010976	positive regulation of neuron projection development
GO:0035690	cellular response to drug
GO:0035914	skeletal muscle cell differentiation
GO:0035994	response to muscle stretch
GO:0043065	positive regulation of apoptotic process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0045214	sarcomere organization
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050714	positive regulation of protein secretion
GO:0055008	cardiac muscle tissue morphogenesis
GO:0071222	cellular response to lipopolysaccharide
GO:0071260	cellular response to mechanical stimulus
GO:0071347	cellular response to interleukin-1
GO:0071356	cellular response to tumor necrosis factor
GO:0071407	cellular response to organic cyclic compound
GO:0071456	cellular response to hypoxia
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:2000279	negative regulation of DNA biosynthetic process