KEGG   Homo sapiens (human): 100
Entry
100               CDS       T01001                                 

Gene name
ADA, ADA1
Definition
(RefSeq) adenosine deaminase
  KO
K01488  adenosine deaminase [EC:3.5.4.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
hsa05340  Primary immunodeficiency
Disease
H00092  T-B-Severe combined immunodeficiency
H02309  Adenosine deaminase deficiency
Drug target
Elapegademase: D11017<JP/US>
Pentostatin: D00155<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    100 (ADA)
 09160 Human Diseases
  09163 Immune disease
   05340 Primary immunodeficiency
    100 (ADA)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.5  Acting on carbon-nitrogen bonds, other than peptide bonds
   3.5.4  In cyclic amidines
    3.5.4.4  adenosine deaminase
     100 (ADA)
SSDB
Motif
Pfam: A_deaminase
Other DBs
NCBI-GeneID: 100
NCBI-ProteinID: NP_000013
OMIM: 608958
HGNC: 186
Ensembl: ENSG00000196839
Vega: OTTHUMG00000033081
Pharos: P00813(Tclin)
UniProt: P00813 A0A0S2Z381
Structure
PDB: 
3IAR

Position
20q13.12
AA seq 363 aa
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPD
FLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQA
EGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAI
DLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIF
KSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAG
QNL
NT seq 1092 nt   +upstreamnt  +downstreamnt
atggcccagacgcccgccttcgacaagcccaaagtggaactgcatgtccacctagacgga
tccatcaagcctgaaaccatcttatactatggcaggaggagagggatcgccctcccagct
aacacagcagaggggctgctgaacgtcattggcatggacaagccgctcacccttccagac
ttcctggccaagtttgactactacatgcctgctatcgcgggctgccgggaggctatcaaa
aggatcgcctatgagtttgtagagatgaaggccaaagagggcgtggtgtatgtggaggtg
cggtacagtccgcacctgctggccaactccaaagtggagccaatcccctggaaccaggct
gaaggggacctcaccccagacgaggtggtggccctagtgggccagggcctgcaggagggg
gagcgagacttcggggtcaaggcccggtccatcctgtgctgcatgcgccaccagcccaac
tggtcccccaaggtggtggagctgtgtaagaagtaccagcagcagaccgtggtagccatt
gacctggctggagatgagaccatcccaggaagcagcctcttgcctggacatgtccaggcc
taccaggaggctgtgaagagcggcattcaccgtactgtccacgccggggaggtgggctcg
gccgaagtagtaaaagaggctgtggacatactcaagacagagcggctgggacacggctac
cacaccctggaagaccaggccctttataacaggctgcggcaggaaaacatgcacttcgag
atctgcccctggtccagctacctcactggtgcctggaagccggacacggagcatgcagtc
attcggctcaaaaatgaccaggctaactactcgctcaacacagatgacccgctcatcttc
aagtccaccctggacactgattaccagatgaccaaacgggacatgggctttactgaagag
gagtttaaaaggctgaacatcaatgcggccaaatctagtttcctcccagaagatgaaaag
agggagcttctcgacctgctctataaagcctatgggatgccaccttcagcctctgcaggg
cagaacctctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (38)   
   RefSeq(nuc) (4)   
   GenBank (17)   
   EMBL (17)   
Protein domain (1)   
   Pfam (1)   
All databases (81)   

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