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ADA adenosine deaminase [ Homo sapiens (human) ]

Gene ID: 100, updated on 21-Oct-2018

Summary

Official Symbol
ADAprovided by HGNC
Official Full Name
adenosine deaminaseprovided by HGNC
Primary source
HGNC:HGNC:186
See related
Ensembl:ENSG00000196839 MIM:608958; Vega:OTTHUMG00000033081
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Biased expression in duodenum (RPKM 234.2) and lymph node (RPKM 16.6) See more
Orthologs

Genomic context

See ADA in Genome Data Viewer
Location:
20q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (44619519..44651758, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43248160..43280376, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine incorporator 3 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene adenosine deaminase intronic regulatory elements Neighboring gene proximal ADA Alu-mediated recombination region Neighboring gene distal ADA Alu-mediated recombination region Neighboring gene long intergenic non-protein coding RNA 1260

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of adenosine deaminase (ADA) in human B cells PubMed
env HIV-1 gp120 inhibits adenosine deaminase (ADA) binding to CD26 (dipeptidyl-peptidase 4) in both CD4+ and CD4- cells; this effect requires the interaction of gp120 with CD4 or CXCR4 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Purine salvage, organism-specific biosystem (from REACTOME)
    Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
  • adenine and adenosine salvage III, organism-specific biosystem (from BIOCYC)
    adenine and adenosine salvage III, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP is synthesized via : IMP and : ADENYLOSUCC, which is converted to AMP by the action of : CPLX66-363, see : PWY-7219. Note that th...
  • adenine and adenosine salvage III, conserved biosystem (from BIOCYC)
    adenine and adenosine salvage III, conserved biosystemAdenosine nucleotides can be synthesized de novo. In that route |FRAME: AMP| (AMP) is synthesized via |FRAME: IMP| (IMP) and |FRAME: ADENYLOSUCC| , which is converted to AMP by the action of |FRAME: ...
  • adenosine nucleotides degradation, organism-specific biosystem (from BIOCYC)
    adenosine nucleotides degradation, organism-specific biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straightforward. A general rule is that degradation pathways start with the nucleotide forms and convert t...
  • adenosine nucleotides degradation II, conserved biosystem (from BIOCYC)
    adenosine nucleotides degradation II, conserved biosystemGeneral Background The distinction between nucleoside degradation and salvage is not always straight forward. A general rule is that degradation pathways start with the nucleotide forms and convert ...
  • purine deoxyribonucleosides degradation, organism-specific biosystem (from BIOCYC)
    purine deoxyribonucleosides degradation, organism-specific biosystemGeneral Background The ubiquitous purine nucleoside phosphorylases catalyze the phosphorolysis of the glycosidic bond of ribo- and 2'-deoxyribo-nucleosides in the presence of inorganic phosphate (Pi...
  • purine deoxyribonucleosides degradation II, conserved biosystem (from BIOCYC)
    purine deoxyribonucleosides degradation II, conserved biosystemGeneral Background The ubiquitous |FRAME: EC-2.4.2.1|, catalyzes the phosphorolysis of the glycosidic bond of ribo- and 2'-deoxyribo-nucleosides in the presence of inorganic phosphate (Pi), in a rev...
  • purine nucleotides degradation, organism-specific biosystem (from BIOCYC)
    purine nucleotides degradation, organism-specific biosystem
    purine nucleotides degradation
  • purine nucleotides degradation II (aerobic), conserved biosystem (from BIOCYC)
    purine nucleotides degradation II (aerobic), conserved biosystemGeneral Background This pathway depicts the degradation of purine nucleotides to purine nucleosides, purine bases, and |FRAME: URATE|. Further degradation is shown in the pathway llink. Purine degra...
  • purine ribonucleosides degradation, conserved biosystem (from BIOCYC)
    purine ribonucleosides degradation, conserved biosystem|FRAME:TAX-562| can use all four naturally occurring purine ribonucleosides (adenosine, guanosine, inosine and xanthosine) as total sources of carbon and energy. The first three (adenosine, guanosin...
  • purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem (from BIOCYC)
    purine ribonucleosides degradation to ribose-1-phosphate, organism-specific biosystem
    purine ribonucleosides degradation to ribose-1-phosphate
  • superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
    superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
  • superpathway of purine nucleotide salvage, conserved biosystem (from BIOCYC)
    superpathway of purine nucleotide salvage, conserved biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenosine deaminase activity EXP
Inferred from Experiment
more info
PubMed 
adenosine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosine deaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
adenosine deaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
purine nucleoside binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Peyer's patch development IEA
Inferred from Electronic Annotation
more info
 
T cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
adenosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adenosine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
dATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
deoxyadenosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
embryonic digestive tract development IEA
Inferred from Electronic Annotation
more info
 
germinal center B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
histamine secretion IEA
Inferred from Electronic Annotation
more info
 
hypoxanthine salvage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
inosine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of adenosine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of adenosine receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of circadian sleep/wake cycle, non-REM sleep IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mature B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mucus secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of penile erection IEA
Inferred from Electronic Annotation
more info
 
negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alpha-beta T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of germinal center formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide salvage IMP
Inferred from Mutant Phenotype
more info
PubMed 
purine ribonucleoside monophosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
regulation of cell-cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
response to morphine IEA
Inferred from Electronic Annotation
more info
 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
xanthine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle lumen IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
adenosine deaminase
Names
adenosine aminohydrolase
NP_000013.2
NP_001308979.1
NP_001308980.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007385.1 RefSeqGene

    Range
    5001..37214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_16

mRNA and Protein(s)

  1. NM_000022.3NP_000013.2  adenosine deaminase isoform 1

    See identical proteins and their annotated locations for NP_000013.2

    Status: REVIEWED

    Source sequence(s)
    AW450871, BC040226, HY102642
    Consensus CDS
    CCDS13335.1
    UniProtKB/Swiss-Prot
    P00813
    UniProtKB/TrEMBL
    A0A0S2Z381
    Related
    ENSP00000361965.4, OTTHUMP00000031785, ENST00000372874.8, OTTHUMT00000080509
    Conserved Domains (1) summary
    cl00281
    Location:9347
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
  2. NM_001322050.1NP_001308979.1  adenosine deaminase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AW450871, CD014053, HY102642
    Conserved Domains (1) summary
    cl00281
    Location:26212
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
  3. NM_001322051.1NP_001308980.1  adenosine deaminase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AW450871, HY102642, Z97053
    Consensus CDS
    CCDS82618.1
    UniProtKB/TrEMBL
    F5GWI4
    Related
    ENSP00000441818.1, OTTHUMP00000240461, ENST00000537820.1, OTTHUMT00000402954
    Conserved Domains (1) summary
    cl00281
    Location:9323
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

RNA

  1. NR_136160.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AW450871, CD014056, HY102642
    Related
    ENST00000536532.5, OTTHUMT00000402952

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    44619519..44651758 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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