InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CECR1

Summary

InnateDB Protein

IDBP-229666.6

Last Modified

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

Gene Symbol

CECR1

Protein Name

cat eye syndrome chromosome region, candidate 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382731

InnateDB Gene

IDBG-933 (CECR1)

Protein Structure

UniProt Annotation

Function

Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. {ECO:0000269PubMed:20147294, ECO:0000269PubMed:20453107}.

Subcellular Localization

Secreted {ECO:0000269PubMed:15926889, ECO:0000269PubMed:20147294, ECO:0000269PubMed:20453107}.

Disease Associations

Polyarteritis nodosa (PAN) [MIM:615688]: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. {ECO:0000269PubMed:24552284, ECO:0000269PubMed:24552285}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. {ECO:0000269PubMed:15926889}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004000	adenosine deaminase activity
GO:0008083	growth factor activity
GO:0008201	heparin binding
GO:0008270	zinc ion binding
GO:0019239	deaminase activity
GO:0031685	adenosine receptor binding
GO:0042803	protein homodimerization activity
GO:0043394	proteoglycan binding

Biological Process

GO:0006154	adenosine catabolic process
GO:0007275	multicellular organismal development
GO:0008152	metabolic process
GO:0043103	hypoxanthine salvage
GO:0046103	inosine biosynthetic process