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ADA adenosine deaminase [ Homo sapiens (human) ]

Gene ID: 100, updated on 13-Mar-2020

Summary

Official Symbol
ADAprovided by HGNC
Official Full Name
adenosine deaminaseprovided by HGNC
Primary source
HGNC:HGNC:186
See related
Ensembl:ENSG00000196839 MIM:608958
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 in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 7879 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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_000022.4NP_000013.2  adenosine deaminase isoform 1

    See identical proteins and their annotated locations for NP_000013.2

    Status: REVIEWED

    Source sequence(s)
    AL139352, Z97053
    Consensus CDS
    CCDS13335.1
    UniProtKB/Swiss-Prot
    P00813
    UniProtKB/TrEMBL
    A0A0S2Z381
    Related
    ENSP00000361965.4, ENST00000372874.9
    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, ENST00000537820.1
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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