ADA adenosine deaminase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAprovided by HGNC
Official Full Name: adenosine deaminaseprovided by HGNC
Primary source: HGNC:HGNC:186
See related: Ensembl:ENSG00000196839 MIM:608958; AllianceGenome:HGNC:186
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
Also known as: ADA1
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: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (44619522..44651699, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46355294..46387474, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43248163..43280340, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Optimized expression and purification of a human adenosine deaminase in E. coli and characterization of its Asp8Asn variant.
Title: Optimized expression and purification of a human adenosine deaminase in E. coli and characterization of its Asp8Asn variant.
The Activity of Adenosine Deaminase and Dipeptidyl Peptidase IV in Children With Attention Deficit Hyperactivity Disorder.
Title: The Activity of Adenosine Deaminase and Dipeptidyl Peptidase IV in Children With Attention Deficit Hyperactivity Disorder.
Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.
Title: Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.
Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.
Title: Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.
Identification of ADA as a Biomarker for Atypical Epstein Barr Virus Infection in Children.
Title: Identification of ADA as a Biomarker for Atypical Epstein Barr Virus Infection in Children.
Correlation of serum adenosine deaminase activity with disease activity in patients with primary Sjogren's syndrome.
Title: Correlation of serum adenosine deaminase activity with disease activity in patients with primary Sjögren's syndrome.
Adenosine deaminase from the cerebrospinal fluid for the diagnosis of tuberculous meningitis: A meta-analysis.
Title: Adenosine deaminase from the cerebrospinal fluid for the diagnosis of tuberculous meningitis: A meta-analysis.
Serum adenosine deaminase activity and acute cerebral infarction: a retrospective case-control study based on 7913 participants.
Title: Serum adenosine deaminase activity and acute cerebral infarction: a retrospective case-control study based on 7913 participants.
The diagnostic value of T cell spot test and adenosine deaminase in pleural effusion for tuberculous pleurisy: A systematic review and meta-analysis.
Title: The diagnostic value of T cell spot test and adenosine deaminase in pleural effusion for tuberculous pleurisy: A systematic review and meta-analysis.
Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?
Title: Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?

Submit: New GeneRIF Correction See all GeneRIFs (169)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MedGen: C1863236 OMIM: 102700 GeneReviews: Adenosine Deaminase Deficiency	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:181143 (e-PCR)
- UniSTS:155161

GDB:181184 (e-PCR)
- UniSTS:155164

GDB:568809 (e-PCR)
- UniSTS:157757

GDB:568814 (e-PCR)
- UniSTS:157758

PMC109465P1 (e-PCR)
- UniSTS:270171

GDB:375441 (e-PCR)
- UniSTS:157024

GDB:375467 (e-PCR)
- UniSTS:157025

GDB:177907 (e-PCR)
- UniSTS:154980

GDB:178379 (e-PCR)
- UniSTS:154989

GDB:178380 (e-PCR)
- UniSTS:154990

ADA (e-PCR)
- UniSTS:480116

AL023480 (e-PCR)
- UniSTS:79022

D20S1110 (e-PCR)
- UniSTS:24021

GDB:180925 (e-PCR)
- UniSTS:155130

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2'-deoxyadenosine deaminase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables adenosine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenosine deaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenosine deaminase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables adenosine deaminase activity	ISS Inferred from Sequence or Structural Similarity more info
enables deaminase activity	EXP Inferred from Experiment more info	PubMed
enables deaminase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in AMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in AMP salvage	IEA Inferred from Electronic Annotation more info
involved_in B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in GMP salvage	IEA Inferred from Electronic Annotation more info
involved_in Peyer's patch development	IEA Inferred from Electronic Annotation more info
involved_in T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenosine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adenosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenosine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in allantoin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in amide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in dAMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dATP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in deoxyadenosine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in embryonic digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in germinal center B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in germinal center formation	IEA Inferred from Electronic Annotation more info
involved_in hypoxanthine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in inosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within inosine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inosine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in mature B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mucus secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of adenosine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of adenosine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mature B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mucus secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of penile erection	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in penile erection	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of germinal center formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine-containing compound salvage	TAS Traceable Author Statement more info
involved_in regulation of cell-cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to inorganic substance	IDA Inferred from Direct Assay more info	PubMed
involved_in response to purine-containing compound	IDA Inferred from Direct Assay more info	PubMed
involved_in smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in trophectodermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in xanthine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle lumen	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: adenosine deaminase

Names: adenosine aminohydrolase

NP_000013.2

EC 3.5.4.4

NP_001308979.1

EC 3.5.4.4

NP_001308980.1

EC 3.5.4.4

NCBI Reference Sequences (RefSeq)

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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

NG_007385.1 RefSeqGene

Range

5001..37214

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_16

mRNA and Protein(s)

NM_000022.4 → NP_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, Q53F92, Q6LA59

UniProtKB/TrEMBL

A0A0S2Z381, A0A8Q3SJ63, A0A8Q3WL01, X5D767

Related

ENSP00000361965.4, ENST00000372874.9

Conserved Domains (1) summary

cl00281
Location:9 → 347

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 ...
NM_001322050.2 → NP_001308979.1 adenosine deaminase isoform 2

Status: REVIEWED

Source sequence(s)

AL139352, Z97053

Conserved Domains (1) summary

cl00281
Location:26 → 212

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 ...
NM_001322051.2 → NP_001308980.1 adenosine deaminase isoform 3

Status: REVIEWED

Source sequence(s)

AL139352, Z97053

Consensus CDS

CCDS82618.1

UniProtKB/TrEMBL

A0A8Q3WKZ5, F5GWI4

Related

ENSP00000441818.1, ENST00000537820.2

Conserved Domains (1) summary

cl00281
Location:9 → 323

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 ...