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UniProtKB - P24557 (THAS_HUMAN)

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Protein

Thromboxane-A synthase

Gene

TBXAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Caution

It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in other mammals.Curated

Catalytic activityi

(5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15-hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-9-alpha,11-alpha-epoxy-15-hydroxythromboxa-5,13-dienoate.

Cofactori

heme

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi479Iron (heme axial ligand)By similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIsomerase, Monooxygenase, Oxidoreductase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Prostaglandin biosynthesis, Prostaglandin metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00728-MONOMER
ReactomeiR-HSA-211979 Eicosanoids
R-HSA-2162123 Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
R-HSA-5579032 Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
SIGNORiP24557

Chemistry databases

SwissLipidsiSLP:000001099

Names & Taxonomyi

Protein namesi
Recommended name:
Thromboxane-A synthase (EC:5.3.99.5)
Short name:
TXA synthase
Short name:
TXS
Alternative name(s):
Cytochrome P450 5A1
Gene namesi
Name:TBXAS1
Synonyms:CYP5, CYP5A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000059377.15
HGNCiHGNC:11609 TBXAS1
MIMi274180 gene
neXtProtiNX_P24557

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 10CytoplasmicSequence analysis10
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Topological domaini32 – 75LumenalSequence analysisAdd BLAST44
Transmembranei76 – 96HelicalSequence analysisAdd BLAST21
Topological domaini97 – 223CytoplasmicSequence analysisAdd BLAST127
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 335LumenalSequence analysisAdd BLAST91
Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
Topological domaini357 – 533CytoplasmicSequence analysisAdd BLAST177

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ghosal hematodiaphyseal dysplasia (GHDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all.
See also OMIM:231095
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04438682L → P in GHDD. 1 PublicationCorresponds to variant dbSNP:rs140005285Ensembl.1
Natural variantiVAR_044388412R → Q in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422117Ensembl.1
Natural variantiVAR_044389481G → W in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422116Ensembl.1
Natural variantiVAR_044390487L → P in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422114Ensembl.1
Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to platelet dysfunction.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6916
MalaCardsiTBXAS1
MIMi231095 phenotype
OpenTargetsiENSG00000059377
Orphaneti1802 Ghosal hematodiaphyseal dysplasia
PharmGKBiPA349

Chemistry databases

ChEMBLiCHEMBL1835
DrugBankiDB03052 Dazoxiben
DB05505 NM-702
DB01207 Ridogrel
DB00795 Sulfasalazine
GuidetoPHARMACOLOGYi1353

Polymorphism and mutation databases

BioMutaiTBXAS1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000522561 – 533Thromboxane-A synthaseAdd BLAST533

Proteomic databases

EPDiP24557
MaxQBiP24557
PeptideAtlasiP24557
PRIDEiP24557
ProteomicsDBi54216

PTM databases

iPTMnetiP24557
PhosphoSitePlusiP24557

Expressioni

Tissue specificityi

Platelets, lung, kidney, spleen, macrophages and lung fibroblasts.

Gene expression databases

BgeeiENSG00000059377
ExpressionAtlasiP24557 baseline and differential
GenevisibleiP24557 HS

Organism-specific databases

HPAiHPA031257
HPA031258
HPA031259

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi112778, 2 interactors
IntActiP24557, 2 interactors
MINTiP24557

Chemistry databases

BindingDBiP24557

Structurei

3D structure databases

ProteinModelPortaliP24557
SMRiP24557
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00900000140779
HOGENOMiHOG000039127
HOVERGENiHBG108567
InParanoidiP24557
KOiK01832
OMAiIAGYEIV
PhylomeDBiP24557

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 2 hits
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 2 hits
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P24557-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEALGFLKLE VNGPMVTVAL SVALLALLKW YSTSAFSRLE KLGLRHPKPS 
        60         70         80         90        100
PFIGNLTFFR QGFWESQMEL RKLYGPLCGY YLGRRMFIVI SEPDMIKQVL 
       110        120        130        140        150
VENFSNFTNR MASGLEFKSV ADSVLFLRDK RWEEVRGALM SAFSPEKLNE 
       160        170        180        190        200
MVPLISQACD LLLAHLKRYA ESGDAFDIQR CYCNYTTDVV ASVAFGTPVD 
       210        220        230        240        250
SWQAPEDPFV KHCKRFFEFC IPRPILVLLL SFPSIMVPLA RILPNKNRDE 
       260        270        280        290        300
LNGFFNKLIR NVIALRDQQA AEERRRDFLQ MVLDARHSAS PMGVQDFDIV 
       310        320        330        340        350
RDVFSSTGCK PNPSRQHQPS PMARPLTVDE IVGQAFIFLI AGYEIITNTL 
       360        370        380        390        400
SFATYLLATN PDCQEKLLRE VDVFKEKHMA PEFCSLEEGL PYLDMVIAET 
       410        420        430        440        450
LRMYPPAFRF TREAAQDCEV LGQRIPAGAV LEMAVGALHH DPEHWPSPET 
       460        470        480        490        500
FNPERFTAEA RQQHRPFTYL PFGAGPRSCL GVRLGLLEVK LTLLHVLHKF 
       510        520        530 
RFQACPETQV PLQLESKSAL GPKNGVYIKI VSR
Length:533
Mass (Da):60,518
Last modified:July 28, 2009 - v3
Checksum:iE95E7B7EA77E6DDC
GO
Isoform 2 (identifier: P24557-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):52,995
Checksum:iE214331AAC1B7797
GO
Isoform 3 (identifier: P24557-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-150: E → ELGLLIMQERIKGHMGGQQAPQRIPPTRLSKPSGIYVNLHYATLPFC

Show »
Length:579
Mass (Da):65,632
Checksum:iB3FF6087E8892CCF
GO
Isoform 4 (identifier: P24557-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     456-459: FTAE → YRCS
     460-533: Missing.

Show »
Length:459
Mass (Da):52,287
Checksum:i7AE5A27B6467D359
GO

Sequence cautioni

The sequence AAA60617 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAA60618 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAC01761 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAC01761 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAF99269 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99270 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99271 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99272 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99273 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99274 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99275 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99276 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99277 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99278 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF99279 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH41157 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG58828 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW83934 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti102E → Q in AAA36742 (PubMed:2043115).Curated1
Sequence conflicti148L → V in AAC01761 (Ref. 4) Curated1
Sequence conflicti194A → P in AAA60617 (PubMed:1730669).Curated1
Sequence conflicti194A → P in AAA60618 (PubMed:1730669).Curated1
Sequence conflicti194A → P in AAC01761 (Ref. 4) Curated1
Sequence conflicti194A → P in AAF99269 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99270 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99271 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99272 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99273 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99274 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99275 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99276 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99277 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99278 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAF99279 (PubMed:11465543).Curated1
Sequence conflicti194A → P in AAA36742 (PubMed:2043115).Curated1
Sequence conflicti385S → G no nucleotide entry (PubMed:1714723).Curated1
Sequence conflicti483R → H in BAA07011 (PubMed:7925341).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01415760R → H in allele CYP5A1*2. 2 PublicationsCorresponds to variant dbSNP:rs6138Ensembl.1
Natural variantiVAR_05846570L → P. Corresponds to variant dbSNP:rs13306050Ensembl.1
Natural variantiVAR_05846670L → V. Corresponds to variant dbSNP:rs4529EnsemblClinVar.1
Natural variantiVAR_04438682L → P in GHDD. 1 PublicationCorresponds to variant dbSNP:rs140005285Ensembl.1
Natural variantiVAR_03629485R → W in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_018378124V → I1 PublicationCorresponds to variant dbSNP:rs8192833Ensembl.1
Natural variantiVAR_010919160D → E in allele CYP5A1*3. 2 PublicationsCorresponds to variant dbSNP:rs5768Ensembl.1
Natural variantiVAR_014158162L → I1 PublicationCorresponds to variant dbSNP:rs6137Ensembl.1
Natural variantiVAR_010920245N → S in allele CYP5A1*4. 1 PublicationCorresponds to variant dbSNP:rs55856189Ensembl.1
Natural variantiVAR_014647257K → E. Corresponds to variant dbSNP:rs5769Ensembl.1
Natural variantiVAR_014648260R → G. Corresponds to variant dbSNP:rs5770Ensembl.1
Natural variantiVAR_014649316Q → K. Corresponds to variant dbSNP:rs5771Ensembl.1
Natural variantiVAR_014159331I → T1 PublicationCorresponds to variant dbSNP:rs6140Ensembl.1
Natural variantiVAR_010921356L → V in allele CYP5A1*5. 3 PublicationsCorresponds to variant dbSNP:rs4529EnsemblClinVar.1
Natural variantiVAR_044387357L → V. Corresponds to variant dbSNP:rs4529EnsemblClinVar.1
Natural variantiVAR_055565387E → K. Corresponds to variant dbSNP:rs3735354EnsemblClinVar.1
Natural variantiVAR_018379388E → K1 PublicationCorresponds to variant dbSNP:rs3735354EnsemblClinVar.1
Natural variantiVAR_016158389G → V. Corresponds to variant dbSNP:rs5760Ensembl.1
Natural variantiVAR_044388412R → Q in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422117Ensembl.1
Natural variantiVAR_010922416Q → E in allele CYP5A1*6. 3 PublicationsCorresponds to variant dbSNP:rs4528Ensembl.1
Natural variantiVAR_014160424R → C1 PublicationCorresponds to variant dbSNP:rs5762Ensembl.1
Natural variantiVAR_014161429A → T2 PublicationsCorresponds to variant dbSNP:rs4526Ensembl.1
Natural variantiVAR_010923449E → K in allele CYP5A1*7. 2 PublicationsCorresponds to variant dbSNP:rs8192868Ensembl.1
Natural variantiVAR_010924450T → N in allele CYP5A1*8. 1 PublicationCorresponds to variant dbSNP:rs5763Ensembl.1
Natural variantiVAR_010925465R → Q in allele CYP5A1*9. 1 PublicationCorresponds to variant dbSNP:rs41311778Ensembl.1
Natural variantiVAR_044389481G → W in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422116Ensembl.1
Natural variantiVAR_044390487L → P in GHDD. 1 PublicationCorresponds to variant dbSNP:rs199422114Ensembl.1
Natural variantiVAR_018380501R → Q1 PublicationCorresponds to variant dbSNP:rs8192864Ensembl.1
Natural variantiVAR_055566511P → L. Corresponds to variant dbSNP:rs13306050Ensembl.1
Natural variantiVAR_044391512L → P. Corresponds to variant dbSNP:rs13306050Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0472171 – 67Missing in isoform 2. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_054121150E → ELGLLIMQERIKGHMGGQQA PQRIPPTRLSKPSGIYVNLH YATLPFC in isoform 3. 1 Publication1
Alternative sequenceiVSP_054122456 – 459FTAE → YRCS in isoform 4. 1 Publication4
Alternative sequenceiVSP_054123460 – 533Missing in isoform 4. 1 PublicationAdd BLAST74

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M80646 mRNA Translation: AAA60617.1 Different initiation.
M80647 mRNA Translation: AAA60618.1 Different initiation.
D34625 Genomic DNA Translation: BAA07011.1
L36085
, L36075, L36076, L36077, L36078, L36079, L36080, L36081, L36082, L36083, L36084 Genomic DNA Translation: AAC01761.1 Different initiation.
AF233615 Genomic DNA Translation: AAF99269.1 Different initiation.
AF233616 Genomic DNA Translation: AAF99270.1 Different initiation.
AF233617 Genomic DNA Translation: AAF99271.1 Different initiation.
AF233618 Genomic DNA Translation: AAF99272.1 Different initiation.
AF233619 Genomic DNA Translation: AAF99273.1 Different initiation.
AF233620 Genomic DNA Translation: AAF99274.1 Different initiation.
AF233621 Genomic DNA Translation: AAF99275.1 Different initiation.
AF233622 Genomic DNA Translation: AAF99276.1 Different initiation.
AF233623 Genomic DNA Translation: AAF99277.1 Different initiation.
AF233624 Genomic DNA Translation: AAF99278.1 Different initiation.
AF233625 Genomic DNA Translation: AAF99279.1 Different initiation.
AK296069 mRNA Translation: BAG58828.1 Different initiation.
AC004914 Genomic DNA No translation available.
AC004961 Genomic DNA No translation available.
AC006021 Genomic DNA No translation available.
CH471070 Genomic DNA Translation: EAW83934.1 Different initiation.
BC014117 mRNA Translation: AAH14117.1
BC041157 mRNA Translation: AAH41157.1 Different initiation.
M74055 mRNA Translation: AAA36742.1
CCDSiCCDS55175.1 [P24557-2]
PIRiA41766
S48161
RefSeqiNP_001052.2, NM_001061.4
NP_001124438.1, NM_001130966.2
NP_001159725.1, NM_001166253.1
NP_001159726.1, NM_001166254.1 [P24557-2]
NP_112246.2, NM_030984.3
UniGeneiHs.520757

Genome annotation databases

EnsembliENST00000425687; ENSP00000388736; ENSG00000059377 [P24557-2]
GeneIDi6916
KEGGihsa:6916
UCSCiuc010lne.4 human [P24557-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTHAS_HUMAN
AccessioniPrimary (citable) accession number: P24557
Secondary accession number(s): B4DJG6
, E7EMU9, E7EP08, E7ESB5, O14987, Q16843, Q16844, Q8IUN1, Q96CN2, Q9GZW4, Q9HD77, Q9HD78, Q9HD79, Q9HD80, Q9HD81, Q9HD82, Q9HD83, Q9HD84
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: July 28, 2009
Last modified: June 20, 2018
This is version 198 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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