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TBXAS1 R413E [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5603356
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Thromboxane-A synthase, TXA synthase, TXS, Cytochrome P450 5A1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective TBXAS1 causes GHDD (Homo sapiens)
Defective TBXAS1 does not isomerise PGH2 to TXA2 (Homo sapiens)
TBXAS1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
TBXAS1 R413E [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P24557 TBXAS1
Gene Names
TBXAS1, CYP5, CYP5A1, TXAS
Chain
chain:1-533
Reference Genes
BioGPS Gene:6916 TBXAS1
COSMIC (genes):TBXAS1 TBXAS1
CTD Gene:6916 TBXAS1
dbSNP Gene:6916 TBXAS1
ENSEMBL:ENSG00000059377 TBXAS1
ENSEMBL:ENSG00000059377.19 TBXAS1
HGNC:11609 TBXAS1
KEGG Gene (Homo sapiens):6916 TBXAS1
Monarch:6916 TBXAS1
NCBI Gene:6916 TBXAS1
OMIM:274180 TBXAS1
UCSC:P24557 TBXAS1
Reference Transcript
RefSeq:NM_001166253.1 TBXAS1
RefSeq:NM_001061.4 TBXAS1
RefSeq:NM_030984.3 TBXAS1
RefSeq:NM_001130966.2 TBXAS1
RefSeq:NM_001166254.1 TBXAS1
Other Identifiers
11721661_a_at
11740678_a_at
11750999_a_at
17052252
208130_PM_s_at
208130_s_at
3027206
3027207
3027210
3027211
3027216
3027217
3027237
3027238
3027249
3027258
3027271
3027273
3027274
3027280
3027284
3027307
3027308
3027316
3027320
3027322
3027323
33777_at
6916
8136557
A_14_P100560
A_14_P101699
A_19_P00318418
A_24_P274814
A_32_P212886
GE60497
GO:0001516
GO:0003013
GO:0003824
GO:0004497
GO:0004796
GO:0005506
GO:0005783
GO:0005789
GO:0005829
GO:0006629
GO:0006631
GO:0006633
GO:0006690
GO:0006693
GO:0016020
GO:0016491
GO:0016705
GO:0016829
GO:0016853
GO:0019371
GO:0020037
GO:0030644
GO:0036134
GO:0043226
GO:0045471
GO:0045907
GO:0046872
GO:0070542
GO:0106256
HMNXSV003029445
HMNXSV003047475
ILMN_2282641
M80647_at
PH_hs_0025972
TC07002618.hg
g13699839_3p_s_at
Participates
as a member of
TBXAS1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
TBXAS1 L488P [endoplasmic reticulum membrane]
TBXAS1 L83P [endoplasmic reticulum membrane]
TBXAS1 G482W [endoplasmic reticulum membrane]
TBXAS1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 413 replaced with L-glutamic acid
Coordinate
413
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamic acid residue [MOD:00015]
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name
Identifier
Synonyms
bone disease
DOID:0080001
anemia
DOID:2355
Cross References
RefSeq
NP_001052.2
,
NP_001159726.1
,
NP_112246.2
,
NP_001124438.1
,
NP_001159725.1
ZINC - World Drugs
THAS_HUMAN
Guide to Pharmacology - Targets
1353
OpenTargets
ENSG00000059377
ZINC - FDA approved
THAS_HUMAN
ZINC - Substances
THAS_HUMAN
ZINC - Biogenic
THAS_HUMAN
ZINC target
P24557
PRO
P24557
ZINC - Investigational
THAS_HUMAN
ZINC - Metabolites
THAS_HUMAN
IntEnz
5.3.99.5
,
4.2.1.152
GeneCards
P24557
HPA
ENSG00000059377-TBXAS1
Ensembl
ENSP00000402536
,
ENSG00000059377
,
ENSP00000338087
,
ENST00000425687
,
ENSP00000388736
,
ENSP00000411326
,
ENSP00000411274
,
ENST00000458722
,
ENST00000448866
,
ENST00000336425
,
ENST00000411653
Pharos - Targets
P24557
ZINC - Predictions - Purchasable
THAS_HUMAN
Orphanet
16752
HMDB Protein
HMDBP01583
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