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ADA R211C [cytosol]
Stable Identifier
R-HSA-9734747
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Adenosine deaminase R211C, Adenosine aminohydrolase
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of nucleotide metabolism (Homo sapiens)
Nucleotide salvage defects (Homo sapiens)
Defective ADA disrupts (deoxy)adenosine deamination (Homo sapiens)
Defective ADA does not deaminate (deoxy)adenosine (Homo sapiens)
ADA mutants [cytosol] (Homo sapiens)
ADA R211C [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
2166947
Hot spot mutations in adenosine deaminase deficiency
Tzall, S
,
Hirschhorn, R
,
Ellenbogen, A
Proc Natl Acad Sci U S A
1990
External Reference Information
External Reference
UniProt:P00813 ADA
Gene Names
ADA, ADA1
Chain
initiator methionine:, chain:2-363
Reference Genes
BioGPS Gene:100 ADA
COSMIC (genes):ADA ADA
CTD Gene:100 ADA
dbSNP Gene:100 ADA
ENSEMBL:ENSG00000196839 ADA
ENSEMBL_homo_sapiens_GENE:ENSG00000196839.14 ADA
HGNC:186 ADA
KEGG Gene (Homo sapiens):100 ADA
Monarch:100 ADA
NCBI Gene:100 ADA
OMIM:608958 ADA
UCSC:P00813 ADA
Reference Transcript
RefSeq:NM_000022.3 ADA
Other Identifiers
100
11718788_a_at
11758337_s_at
16919466
204639_PM_at
204639_at
216705_PM_s_at
216705_s_at
3907012
3907013
3907016
3907018
3907019
3907020
3907022
3907024
3907025
3907026
3907027
3907031
3907034
3907035
41654_at
8066431
907_at
A_23_P210482
GE59645
GO:0000255
GO:0001666
GO:0001701
GO:0001829
GO:0001889
GO:0001890
GO:0002314
GO:0002376
GO:0002467
GO:0002636
GO:0002686
GO:0002901
GO:0002906
GO:0003012
GO:0003013
GO:0003824
GO:0004000
GO:0005515
GO:0005737
GO:0005764
GO:0005773
GO:0005829
GO:0005886
GO:0006154
GO:0006157
GO:0006196
GO:0006805
GO:0006915
GO:0006939
GO:0006954
GO:0007155
GO:0008270
GO:0009117
GO:0009168
GO:0009897
GO:0009986
GO:0010035
GO:0010460
GO:0012501
GO:0014074
GO:0016020
GO:0016787
GO:0019239
GO:0019722
GO:0022414
GO:0023052
GO:0030154
GO:0030217
GO:0030324
GO:0030890
GO:0031410
GO:0032261
GO:0032263
GO:0033077
GO:0033089
GO:0033632
GO:0042100
GO:0042110
GO:0043066
GO:0043084
GO:0043101
GO:0043103
GO:0043226
GO:0043605
GO:0044209
GO:0045580
GO:0045582
GO:0045987
GO:0046059
GO:0046061
GO:0046085
GO:0046101
GO:0046103
GO:0046111
GO:0046632
GO:0046638
GO:0046872
GO:0046936
GO:0048286
GO:0048541
GO:0048566
GO:0048856
GO:0048870
GO:0050728
GO:0050850
GO:0050852
GO:0050862
GO:0050870
GO:0050900
GO:0055086
GO:0060169
GO:0060205
GO:0060407
GO:0070161
GO:0070242
GO:0070244
GO:0070254
GO:0070256
GO:1901135
HMNXSV003015575
Hs.1217.1.S1_3p_a_at
M13792_at
PH_hs_0040289
TC20000868.hg
Participates
as a member of
ADA mutants [cytosol] (Homo sapiens)
Other forms of this molecule
ADA A215T [cytosol]
ADA P297Q [cytosol]
ADA [cytosol]
Modified Residues
Name
L-arginine 211 replaced with L-cysteine
Coordinate
211
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Cross References
RefSeq
NP_000013.2
ZINC - World Drugs
ADA_HUMAN
Guide to Pharmacology - Targets
1230
OpenTargets
ENSG00000196839
ZINC - FDA approved
ADA_HUMAN
ZINC - Substances
ADA_HUMAN
ZINC target
P00813
PRO
P00813
PDB
7RTG
,
3IAR
IntEnz
3.5.4.4
HPA
ENSG00000196839-ADA
GeneCards
P00813
Ensembl
ENSP00000361965
,
ENSG00000196839
,
ENST00000372874
Pharos - Targets
P00813
ZINC - Predictions - Purchasable
ADA_HUMAN
Orphanet
15080
HMDB Protein
HMDBP00664
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:A5A3E0 POTEF
0.564
2
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