cat eye syndrome chromosome region, candidate 1

Symbol

CECR1 (may also be known as: None)

Organism

Human

Description

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Orthologs

SymbolSpecies
Adgf-E Drosophila melanogaster
cecr1b Danio rerio

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3882 Gene expression of CECR1 decreases with age Molecular skin Human CECR1 —

GO Terms

GO IDGO TermGO Category
GO:0006154 adenosine catabolic process biological_process
GO:0007275 multicellular organismal development biological_process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process biological_process
GO:0043103 hypoxanthine salvage biological_process
GO:0046103 inosine biosynthetic process biological_process
GO:0005576 extracellular region cellular_component
GO:0005615 extracellular space cellular_component
GO:0005794 Golgi apparatus cellular_component
GO:0005829 cytosol cellular_component
GO:0004000 adenosine deaminase activity molecular_function
GO:0008083 growth factor activity molecular_function
GO:0008201 heparin binding molecular_function
GO:0008270 zinc ion binding molecular_function
GO:0016787 hydrolase activity molecular_function
GO:0019239 deaminase activity molecular_function
GO:0031685 adenosine receptor binding molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0043394 proteoglycan binding molecular_function
GO:0046872 metal ion binding molecular_function