Homo sapiens Gene: ADA
Summary
InnateDB Gene IDBG-76830.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ADA
Gene Name adenosine deaminase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000196839
Encoded Proteins
adenosine deaminase
adenosine deaminase
adenosine deaminase
adenosine deaminase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:44619522-44652233
Strand Reverse strand
Band q13.12
Transcripts
ENST00000372874 ENSP00000361965
ENST00000464097
ENST00000492931
ENST00000536532 ENSP00000440946
ENST00000539235 ENSP00000446464
ENST00000537820 ENSP00000441818
ENST00000545776
ENST00000536076
ENST00000535573
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001883 purine nucleoside binding
GO:0004000 adenosine deaminase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0019239 deaminase activity
Biological Process
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0001821 histamine secretion
GO:0001829 trophectodermal cell differentiation
GO:0001889 liver development
GO:0001890 placenta development
GO:0002314 germinal center B cell differentiation
GO:0002636 positive regulation of germinal center formation
GO:0002686 negative regulation of leukocyte migration
GO:0002906 negative regulation of mature B cell apoptotic process
GO:0006144 purine nucleobase metabolic process
GO:0006154 adenosine catabolic process
GO:0006157 deoxyadenosine catabolic process
GO:0007155 cell adhesion
GO:0007568 aging
GO:0008152 metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0010460 positive regulation of heart rate
GO:0030324 lung development
GO:0030890 positive regulation of B cell proliferation
GO:0032261 purine nucleotide salvage
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0033197 response to vitamin E
GO:0033632 regulation of cell-cell adhesion mediated by integrin
GO:0042110 T cell activation
GO:0042323 negative regulation of circadian sleep/wake cycle, non-REM sleep
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0043066 negative regulation of apoptotic process
GO:0043101 purine-containing compound salvage
GO:0043103 hypoxanthine salvage
GO:0043278 response to morphine
GO:0044281 small molecule metabolic process
GO:0045187 regulation of circadian sleep/wake cycle, sleep
GO:0045580 regulation of T cell differentiation
GO:0045582 positive regulation of T cell differentiation
GO:0045987 positive regulation of smooth muscle contraction
GO:0046061 dATP catabolic process
GO:0046101 hypoxanthine biosynthetic process
GO:0046103 inosine biosynthetic process
GO:0046111 xanthine biosynthetic process
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0048286 lung alveolus development
GO:0048541 Peyer's patch development
GO:0048566 embryonic digestive tract development
GO:0050728 negative regulation of inflammatory response
GO:0050850 positive regulation of calcium-mediated signaling
GO:0050862 positive regulation of T cell receptor signaling pathway
GO:0050870 positive regulation of T cell activation
GO:0055086 nucleobase-containing small molecule metabolic process
GO:0060169 negative regulation of adenosine receptor signaling pathway
GO:0060407 negative regulation of penile erection
GO:0070244 negative regulation of thymocyte apoptotic process
GO:0070256 negative regulation of mucus secretion
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0030054 cell junction
GO:0032839 dendrite cytoplasm
GO:0043025 neuronal cell body
GO:0060205 cytoplasmic membrane-bounded vesicle lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TCR pathway
REACTOME
Purine salvage pathway
Metabolism of nucleotides pathway
Purine metabolism pathway
Metabolism pathway
KEGG
Purine metabolism pathway
Primary immunodeficiency pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID NCI
p73 transcription factor network
C-MYB transcription factor network
Validated transcriptional targets of deltaNp63 isoforms
Validated transcriptional targets of TAp63 isoforms
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000022 XM_005260236
HUGO
OMIM
CCDS CCDS13335
HPRD 00038
IMGT
EMBL
GenPept
RNA Seq Atlas