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adenosine deaminase CECR1; adenosine deaminase 2; cat eye syndrome critical region protein 1 (CECR1, ADA2)
Function:
- adenosine deaminase
- may contribute to the degradation of extracellular adenosine
- role in growth regulation through a adenosine deaminase activity
- role in inflammation & fever [2]
- homodimer
- interacts with adenosine receptors
- binds heparin
Cofactor: binds 1 Zn+2 per subunit
Kinetic parameters:
- KM=2.25 mM for adenosine
- pH dependence:
- optimum pH is 6.6
Structure:
- belongs to the adenosine & AMP deaminases family
- PRB domain is involved in receptor binding & may be responsible for the cytokine-like growth factor activity
- high-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimer's subunits involving ~ residues 30-45, 389-396, & 422-428
Compartment: secreted
Alternative splicing: named isoforms=2
Expression:
- widely expressed
- most abundant expression in human adult heart, lung, lymphoblasts, placenta & fetal lung, liver, & kidney
- in embryo, expressed in outflow tract & atrium of developing heart, VII/VIII cranial nerve ganglion & notochord
Pathology:
- candidate gene for the Cat Eye Syndrome
- mutations resulting in diminished adenosine deaminase activity associated with polyarteritis nodosa, stroke, & other vascular diseases
- 5 of 9 patients with stroke before age 5
- recurrent fevers in all
Related
cat-eye syndrome
General
adenosine deaminase (adenosine aminohydrolase, ADA)
cat eye syndrome critical region protein (CECR)
Properties
SIZE: MW = 59 kD
entity length = 511 aa
COMPARTMENT: cytoplasm
CELL: most cell types*
plasma
MOTIF: signal sequence {1-29}
histidine residue {H214}
active site
cysteine residue {C262}
aspartate residue {D295}
aspartate residue {D296}
Database Correlations
OMIM 607575
UniProt Q9NZK5
PFAM correlations
References
- UniProt :accession Q9NZK5
- Zhou Q, Yang D, Ombrello AK et al
Early-Onset Stroke and Vasculopathy Associated with Mutations
in ADA2.
N Engl J Med. Feb 19, 2014
PMID: 24552284
http://www.nejm.org/doi/full/10.1056/NEJMoa1307361
- Elkan PN, Pierce SB, Segel R
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa
Vasculopathy.
N Engl J Med. Feb 19, 2014
PMID: 24552285
http://www.nejm.org/doi/full/10.1056/NEJMoa1307362