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Protein

Serine--pyruvate aminotransferase

Gene

AGXT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

L-serine + pyruvate = 3-hydroxypyruvate + L-alanine.
L-alanine + glyoxylate = pyruvate + glycine.

Cofactori

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei360Substrate1

GO - Molecular functioni

  • alanine-glyoxylate transaminase activity Source: UniProtKB
  • amino acid binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein self-association Source: UniProtKB
  • pyridoxal phosphate binding Source: UniProtKB
  • receptor binding Source: UniProtKB
  • serine-pyruvate transaminase activity Source: GO_Central
  • transaminase activity Source: UniProtKB

GO - Biological processi

  • cellular nitrogen compound metabolic process Source: Reactome
  • glycine biosynthetic process, by transamination of glyoxylate Source: UniProtKB
  • glyoxylate catabolic process Source: UniProtKB
  • glyoxylate metabolic process Source: HGNC
  • L-alanine catabolic process Source: UniProtKB
  • L-cysteine catabolic process Source: UniProtKB
  • Notch signaling pathway Source: Ensembl
  • oxalic acid secretion Source: Ensembl
  • pyruvate biosynthetic process Source: Ensembl
  • response to cAMP Source: Ensembl
  • response to glucocorticoid Source: Ensembl

Keywordsi

Molecular functionAminotransferase, Transferase
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS10525-MONOMER.
BRENDAi2.6.1.44. 2681.
ReactomeiR-HSA-389661. Glyoxylate metabolism and glycine degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine--pyruvate aminotransferase (EC:2.6.1.51)
Short name:
SPT
Alternative name(s):
Alanine--glyoxylate aminotransferase (EC:2.6.1.44)
Short name:
AGT
Gene namesi
Name:AGXT
Synonyms:AGT1, SPAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000172482.4.
HGNCiHGNC:341. AGXT.

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

Keywords - Cellular componenti

Mitochondrion, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Hyperoxaluria primary 1 (HP1)24 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.
See also OMIM:259900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07458236R → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177157Ensembl.1
Natural variantiVAR_07458341G → E in HP1; loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177168Ensembl.1
Natural variantiVAR_00058841G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of protein stability; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; partial mitochondrial mistargeting; intraperoxisomal protein aggregation seen. 7 PublicationsCorresponds to variant dbSNP:rs121908523Ensembl.1
Natural variantiVAR_01096941G → V in HP1; reduced alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs180177168Ensembl.1
Natural variantiVAR_07458447G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; reduced expression levels; reduced pyridoxal phosphate binding; reduced dimerization; reduced thermostability; increased propensity to aggregation; increased susceptibility to proteolytic degradation within the N-terminal region; mitochondrial mistargeting; exposure to pyridoxine can rescue the functionality by partially preventing aggregation and degradation and by redirecting all the protein to the peroxisome. 1 PublicationCorresponds to variant dbSNP:rs180177173Ensembl.1
Natural variantiVAR_00887882G → E in HP1; abolishes alanine--glyoxylate aminotransferase activity by interfering with pyridoxal phosphate binding. 3 PublicationsCorresponds to variant dbSNP:rs121908522Ensembl.1
Natural variantiVAR_06054882G → R in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177185Ensembl.1
Natural variantiVAR_01097095E → EE in HP1. 2 Publications1
Natural variantiVAR_060549108W → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs180177197Ensembl.1
Natural variantiVAR_060550112A → D in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs796052061Ensembl.1
Natural variantiVAR_010971116G → R in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177207Ensembl.1
Natural variantiVAR_060551139Missing in HP1. 1 Publication1
Natural variantiVAR_074585150L → P in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177222Ensembl.1
Natural variantiVAR_000589152F → I in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein destabilization; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; mitochondrial mistargeting. 6 PublicationsCorresponds to variant dbSNP:rs121908524Ensembl.1
Natural variantiVAR_060552153L → V in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177223Ensembl.1
Natural variantiVAR_010972156G → R in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability. 7 PublicationsCorresponds to variant dbSNP:rs121908530Ensembl.1
Natural variantiVAR_060553158S → L in HP1; loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs180177225Ensembl.1
Natural variantiVAR_074586161G → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization. 2 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_060554161G → R in HP1; loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; loss of dimerization. 3 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_074587161G → S in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization. 2 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_074588166L → P in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177230Ensembl.1
Natural variantiVAR_000590170G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in mitochondrial mistargeting; slight decrease in alanine--glyoxylate aminotransferase activity; loss of dimerization; partial loss of protein stability but protein stability increases in the presence of pyridoxal phosphate; causes protein aggregation. 7 PublicationsCorresponds to variant dbSNP:rs121908529Ensembl.1
Natural variantiVAR_060555173C → Y in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs180177231Ensembl.1
Natural variantiVAR_010973183D → N in HP1; loss of alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177236Ensembl.1
Natural variantiVAR_000591187S → F in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization but improved dimerization in the presence of pyridoxal phosphate; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177238Ensembl.1
Natural variantiVAR_060556190G → R in HP1. 4 PublicationsCorresponds to variant dbSNP:rs180177239Ensembl.1
Natural variantiVAR_060557195M → R in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177244Ensembl.1
Natural variantiVAR_060558201D → E in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177246Ensembl.1
Natural variantiVAR_074589202I → N in HP1; unknown pathological significance. 1 Publication1
Natural variantiVAR_000592205S → P in HP1; loss of alanine--glyoxylate aminotransferase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121908520Ensembl.1
Natural variantiVAR_060559218S → L in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177253Ensembl.1
Natural variantiVAR_008879233R → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs121908526Ensembl.1
Natural variantiVAR_008880233R → H in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121908527Ensembl.1
Natural variantiVAR_060560233R → L in HP1. 1 PublicationCorresponds to variant dbSNP:rs121908527Ensembl.1
Natural variantiVAR_060561243D → H in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177258Ensembl.1
Natural variantiVAR_008881244I → T in HP1; prevalent mutation in the Canary islands; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; partial mitochondrial mistargeting. 9 PublicationsCorresponds to variant dbSNP:rs121908525Ensembl.1
Natural variantiVAR_060562253C → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs180177264Ensembl.1
Natural variantiVAR_060563279I → M in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177277Ensembl.1
Natural variantiVAR_060566287S → T in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177289Ensembl.1
Natural variantiVAR_060567289R → C in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177290Ensembl.1
Natural variantiVAR_060568296Missing in HP1. 1 Publication1
Natural variantiVAR_060569298L → P in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177293Ensembl.1
Natural variantiVAR_060571336V → D in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177155Ensembl.1
Natural variantiVAR_060572350G → D in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177156Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi209K → R: Affects pyridoxal phosphate binding; loss of alanine--glyoxylate aminotransferase activity. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi189.
GeneReviewsiAGXT.
MalaCardsiAGXT.
MIMi259900. phenotype.
OpenTargetsiENSG00000172482.
Orphaneti93598. Primary hyperoxaluria type 1.
PharmGKBiPA24633.

Chemistry databases

DrugBankiDB08060. 4-(2-AMINOPHENYL)-4-OXOBUTANOIC ACID.
DB02079. Aminooxyacetic acid.
DB00145. Glycine.
DB00160. L-Alanine.
DB00133. L-Serine.
DB04083. N'-Pyridoxyl-Lysine-5'-Monophosphate.
DB00114. Pyridoxal Phosphate.

Polymorphism and mutation databases

BioMutaiAGXT.
DMDMi134855.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001502371 – 392Serine--pyruvate aminotransferaseAdd BLAST392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphothreonineCombined sources1
Modified residuei209N6-(pyridoxal phosphate)lysine1
Modified residuei225N6-acetyllysine; alternateBy similarity1
Modified residuei225N6-succinyllysine; alternateBy similarity1
Modified residuei234N6-acetyllysineBy similarity1
Modified residuei312N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP21549.
PaxDbiP21549.
PeptideAtlasiP21549.
PRIDEiP21549.

PTM databases

iPTMnetiP21549.
PhosphoSitePlusiP21549.

Expressioni

Tissue specificityi

Liver.

Gene expression databases

BgeeiENSG00000172482.
CleanExiHS_AGXT.
GenevisibleiP21549. HS.

Organism-specific databases

HPAiHPA035370.
HPA035371.

Interactioni

Subunit structurei

Homodimer.3 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • protein self-association Source: UniProtKB
  • receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106694. 4 interactors.
DIPiDIP-59650N.
IntActiP21549. 27 interactors.
MINTiMINT-1419187.
STRINGi9606.ENSP00000302620.

Structurei

Secondary structure

1392
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi13 – 15Combined sources3
Beta strandi27 – 29Combined sources3
Helixi35 – 41Combined sources7
Helixi51 – 68Combined sources18
Beta strandi73 – 80Combined sources8
Helixi82 – 93Combined sources12
Beta strandi99 – 106Combined sources8
Helixi107 – 118Combined sources12
Beta strandi122 – 127Combined sources6
Helixi136 – 146Combined sources11
Beta strandi149 – 156Combined sources8
Turni158 – 160Combined sources3
Helixi169 – 175Combined sources7
Beta strandi179 – 183Combined sources5
Turni185 – 190Combined sources6
Turni195 – 199Combined sources5
Beta strandi201 – 209Combined sources9
Beta strandi218 – 222Combined sources5
Helixi224 – 231Combined sources8
Helixi244 – 250Combined sources7
Beta strandi254 – 256Combined sources3
Helixi266 – 282Combined sources17
Helixi284 – 304Combined sources21
Beta strandi308 – 311Combined sources4
Helixi314 – 316Combined sources3
Beta strandi321 – 325Combined sources5
Helixi332 – 343Combined sources12
Beta strandi344 – 346Combined sources3
Helixi352 – 354Combined sources3
Turni355 – 357Combined sources3
Beta strandi358 – 362Combined sources5
Helixi365 – 367Combined sources3
Helixi370 – 386Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H0CX-ray2.50A1-392[»]
1J04X-ray2.60A1-392[»]
2YOBX-ray1.90A/B1-388[»]
3R9AX-ray2.35A/C1-392[»]
4CBRX-ray2.30A1-392[»]
4CBSX-ray2.30A1-392[»]
4I8AX-ray2.90A/B/C/D1-392[»]
4KXKX-ray2.90A/C1-392[»]
4KYOX-ray2.20A/C1-392[»]
5F9SX-ray1.70A/B6-391[»]
5HHYX-ray1.70A/B6-391[»]
ProteinModelPortaliP21549.
SMRiP21549.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP21549.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2862. Eukaryota.
COG0075. LUCA.
GeneTreeiENSGT00390000006648.
HOGENOMiHOG000171815.
HOVERGENiHBG006907.
InParanoidiP21549.
KOiK00830.
OMAiWGCDDKP.
OrthoDBiEOG091G0EMK.
PhylomeDBiP21549.
TreeFamiTF313234.

Family and domain databases

Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProiView protein in InterPro
IPR000192. Aminotrans_V_dom.
IPR020578. Aminotrans_V_PyrdxlP_BS.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_sub2.
IPR024169. SP_NH2Trfase/AEP_transaminase.
PfamiView protein in Pfam
PF00266. Aminotran_5. 1 hit.
PIRSFiPIRSF000524. SPT. 1 hit.
SUPFAMiSSF53383. SSF53383. 1 hit.
PROSITEiView protein in PROSITE
PS00595. AA_TRANSFER_CLASS_5. 1 hit.

Sequencei

Sequence statusi: Complete.

P21549-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS
60 70 80 90 100
KDMYQIMDEI KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF
110 120 130 140 150
LVGANGIWGQ RAVDIGERIG ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL
160 170 180 190 200
LFLTHGESST GVLQPLDGFG ELCHRYKCLL LVDSVASLGG TPLYMDRQGI
210 220 230 240 250
DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF YLDIKWLANF
260 270 280 290 300
WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG
310 320 330 340 350
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG
360 370 380 390
LGPSTGKVLR IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL
Length:392
Mass (Da):43,010
Last modified:May 1, 1991 - v1
Checksum:i2987DDE85B2470B4
GO

Polymorphismi

Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0605479T → N Polymorphism; no loss of alanine--glyoxylate aminotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs115014558Ensembl.1
Natural variantiVAR_00058711P → L Common polymorphism; reduction of specific alanine--glyoxylate aminotransferase activity in vitro; causes mitochondrial mistargeting when associated with R-170. 2 PublicationsCorresponds to variant dbSNP:rs34116584Ensembl.1
Natural variantiVAR_04823622N → S. Corresponds to variant dbSNP:rs34885252Ensembl.1
Natural variantiVAR_07458236R → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177157Ensembl.1
Natural variantiVAR_07458341G → E in HP1; loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177168Ensembl.1
Natural variantiVAR_00058841G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of protein stability; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; partial mitochondrial mistargeting; intraperoxisomal protein aggregation seen. 7 PublicationsCorresponds to variant dbSNP:rs121908523Ensembl.1
Natural variantiVAR_01096941G → V in HP1; reduced alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs180177168Ensembl.1
Natural variantiVAR_07458447G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; reduced expression levels; reduced pyridoxal phosphate binding; reduced dimerization; reduced thermostability; increased propensity to aggregation; increased susceptibility to proteolytic degradation within the N-terminal region; mitochondrial mistargeting; exposure to pyridoxine can rescue the functionality by partially preventing aggregation and degradation and by redirecting all the protein to the peroxisome. 1 PublicationCorresponds to variant dbSNP:rs180177173Ensembl.1
Natural variantiVAR_00887882G → E in HP1; abolishes alanine--glyoxylate aminotransferase activity by interfering with pyridoxal phosphate binding. 3 PublicationsCorresponds to variant dbSNP:rs121908522Ensembl.1
Natural variantiVAR_06054882G → R in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177185Ensembl.1
Natural variantiVAR_01097095E → EE in HP1. 2 Publications1
Natural variantiVAR_060549108W → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs180177197Ensembl.1
Natural variantiVAR_060550112A → D in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs796052061Ensembl.1
Natural variantiVAR_010971116G → R in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177207Ensembl.1
Natural variantiVAR_060551139Missing in HP1. 1 Publication1
Natural variantiVAR_074585150L → P in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177222Ensembl.1
Natural variantiVAR_000589152F → I in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein destabilization; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; mitochondrial mistargeting. 6 PublicationsCorresponds to variant dbSNP:rs121908524Ensembl.1
Natural variantiVAR_060552153L → V in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177223Ensembl.1
Natural variantiVAR_010972156G → R in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability. 7 PublicationsCorresponds to variant dbSNP:rs121908530Ensembl.1
Natural variantiVAR_060553158S → L in HP1; loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs180177225Ensembl.1
Natural variantiVAR_074586161G → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization. 2 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_060554161G → R in HP1; loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; loss of dimerization. 3 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_074587161G → S in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization. 2 PublicationsCorresponds to variant dbSNP:rs180177227Ensembl.1
Natural variantiVAR_074588166L → P in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs180177230Ensembl.1
Natural variantiVAR_000590170G → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in mitochondrial mistargeting; slight decrease in alanine--glyoxylate aminotransferase activity; loss of dimerization; partial loss of protein stability but protein stability increases in the presence of pyridoxal phosphate; causes protein aggregation. 7 PublicationsCorresponds to variant dbSNP:rs121908529Ensembl.1
Natural variantiVAR_060555173C → Y in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs180177231Ensembl.1
Natural variantiVAR_010973183D → N in HP1; loss of alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177236Ensembl.1
Natural variantiVAR_000591187S → F in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization but improved dimerization in the presence of pyridoxal phosphate; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177238Ensembl.1
Natural variantiVAR_060556190G → R in HP1. 4 PublicationsCorresponds to variant dbSNP:rs180177239Ensembl.1
Natural variantiVAR_060557195M → R in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177244Ensembl.1
Natural variantiVAR_060558201D → E in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177246Ensembl.1
Natural variantiVAR_074589202I → N in HP1; unknown pathological significance. 1 Publication1
Natural variantiVAR_000592205S → P in HP1; loss of alanine--glyoxylate aminotransferase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs121908520Ensembl.1
Natural variantiVAR_060559218S → L in HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs180177253Ensembl.1
Natural variantiVAR_008879233R → C in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs121908526Ensembl.1
Natural variantiVAR_008880233R → H in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121908527Ensembl.1
Natural variantiVAR_060560233R → L in HP1. 1 PublicationCorresponds to variant dbSNP:rs121908527Ensembl.1
Natural variantiVAR_060561243D → H in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177258Ensembl.1
Natural variantiVAR_008881244I → T in HP1; prevalent mutation in the Canary islands; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; partial mitochondrial mistargeting. 9 PublicationsCorresponds to variant dbSNP:rs121908525Ensembl.1
Natural variantiVAR_060562253C → R in HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs180177264Ensembl.1
Natural variantiVAR_060563279I → M in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177277Ensembl.1
Natural variantiVAR_060564279I → T1 PublicationCorresponds to variant dbSNP:rs140992177Ensembl.1
Natural variantiVAR_060565280A → V1 PublicationCorresponds to variant dbSNP:rs73106685Ensembl.1
Natural variantiVAR_060566287S → T in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177289Ensembl.1
Natural variantiVAR_060567289R → C in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177290Ensembl.1
Natural variantiVAR_048237295A → T. Corresponds to variant dbSNP:rs13408961Ensembl.1
Natural variantiVAR_060568296Missing in HP1. 1 Publication1
Natural variantiVAR_060569298L → P in HP1. 2 PublicationsCorresponds to variant dbSNP:rs180177293Ensembl.1
Natural variantiVAR_060570326V → I1 PublicationCorresponds to variant dbSNP:rs115057148Ensembl.1
Natural variantiVAR_060571336V → D in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177155Ensembl.1
Natural variantiVAR_000593340I → M Common polymorphism; associated with hyperoxaluria. 1 PublicationCorresponds to variant dbSNP:rs4426527Ensembl.1
Natural variantiVAR_060572350G → D in HP1. 1 PublicationCorresponds to variant dbSNP:rs180177156Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X56092 mRNA. Translation: CAA39572.1.
X53414 mRNA. Translation: CAA37493.1.
D13368 mRNA. Translation: BAA02632.1.
M61763 Genomic DNA. Translation: AAA51680.1.
AK292754 mRNA. Translation: BAF85443.1.
AC104809 Genomic DNA. Translation: AAY24168.1.
CH471063 Genomic DNA. Translation: EAW71222.1.
BC132819 mRNA. Translation: AAI32820.1.
CCDSiCCDS2543.1.
PIRiI39419. XNHUSP.
RefSeqiNP_000021.1. NM_000030.2.
UniGeneiHs.144567.

Genome annotation databases

EnsembliENST00000307503; ENSP00000302620; ENSG00000172482.
GeneIDi189.
KEGGihsa:189.
UCSCiuc002waa.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPYA_HUMAN
AccessioniPrimary (citable) accession number: P21549
Secondary accession number(s): Q53QU6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: May 1, 1991
Last modified: September 27, 2017
This is version 173 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families