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Protein

Alkyldihydroxyacetonephosphate synthase, peroxisomal

Gene

AGPS

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

Functioni

Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids.By similarity

Catalytic activityi

1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion.

Cofactori

Pathwayi: ether lipid biosynthesis

This protein is involved in the pathway ether lipid biosynthesis, which is part of Glycerolipid metabolism.
View all proteins of this organism that are known to be involved in the pathway ether lipid biosynthesis and in Glycerolipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei419Important for enzyme activityBy similarity1
Binding sitei515SubstrateBy similarity1
Active sitei578Proton donor/acceptorBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi234 – 240FADBy similarity7
Nucleotide bindingi303 – 309FADBy similarity7
Nucleotide bindingi316 – 319FADBy similarity4
Nucleotide bindingi368 – 374FADBy similarity7

GO - Molecular functioni

  • alkylglycerone-phosphate synthase activity Source: UniProtKB
  • FAD binding Source: UniProtKB
  • oxidoreductase activity Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processLipid biosynthesis, Lipid metabolism
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS00389-MONOMER
ReactomeiR-HSA-75896 Plasmalogen biosynthesis
R-HSA-9033241 Peroxisomal protein import
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins
UniPathwayi
UPA00781

Chemistry databases

SwissLipidsiSLP:000000611

Names & Taxonomyi

Protein namesi
Recommended name:
Alkyldihydroxyacetonephosphate synthase, peroxisomal (EC:2.5.1.26)
Short name:
Alkyl-DHAP synthase
Alternative name(s):
Aging-associated gene 5 protein
Alkylglycerone-phosphate synthase
Gene namesi
Name:AGPS
ORF Names:AAG5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000018510.12
HGNCiHGNC:327 AGPS
MIMi603051 gene
neXtProtiNX_O00116

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

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Rhizomelic chondrodysplasia punctata 3 (RCDP3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
See also OMIM:600121
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066929182R → Q in RCDP3; severely reduced protein levels. 1 Publication1
Natural variantiVAR_025895309T → I in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434412EnsemblClinVar.1
Natural variantiVAR_005002419R → H in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434411EnsemblClinVar.1
Natural variantiVAR_025896469L → P in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434413EnsemblClinVar.1
Natural variantiVAR_066930471E → K in RCDP3; severely reduced protein levels. 1 Publication1
Natural variantiVAR_066931568T → M in RCDP3; does not affect protein levels. 1 PublicationCorresponds to variant dbSNP:rs387907214EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation, Dwarfism, Rhizomelic chondrodysplasia punctata

Organism-specific databases

DisGeNETi8540
MalaCardsiAGPS
MIMi600121 phenotype
OpenTargetsiENSG00000018510
Orphaneti309803 Rhizomelic chondrodysplasia punctata type 3
PharmGKBiPA24624

Polymorphism and mutation databases

BioMutaiAGPS

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 58PeroxisomeBy similarityAdd BLAST58
ChainiPRO_000002043159 – 658Alkyldihydroxyacetonephosphate synthase, peroxisomalAdd BLAST600

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei65PhosphoserineCombined sources1
Modified residuei74PhosphothreonineCombined sources1
Modified residuei102N6-acetyllysineCombined sources1
Modified residuei347N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO00116
MaxQBiO00116
PaxDbiO00116
PeptideAtlasiO00116
PRIDEiO00116
ProteomicsDBi47718

PTM databases

iPTMnetiO00116
PhosphoSitePlusiO00116
SwissPalmiO00116

Expressioni

Gene expression databases

BgeeiENSG00000018510 Expressed in 211 organ(s), highest expression level in bone marrow
CleanExiHS_AGPS
ExpressionAtlasiO00116 baseline and differential
GenevisibleiO00116 HS

Organism-specific databases

HPAiHPA030209
HPA030210
HPA030211

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GORASP1Q9BQQ35EBI-2838732,EBI-2561458

Protein-protein interaction databases

BioGridi114110, 30 interactors
CORUMiO00116
IntActiO00116, 19 interactors
STRINGi9606.ENSP00000264167

Structurei

3D structure databases

ProteinModelPortaliO00116
SMRiO00116
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini202 – 384FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST183

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni615 – 617Important for enzyme activityBy similarity3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 8Poly-Ala7

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1233 Eukaryota
COG0277 LUCA
GeneTreeiENSGT00530000063515
HOGENOMiHOG000231620
HOVERGENiHBG004179
InParanoidiO00116
KOiK00803
OMAiSVPWDRC
OrthoDBiEOG091G07KJ
PhylomeDBiO00116
TreeFamiTF313830

Family and domain databases

Gene3Di1.10.45.10, 1 hit
3.30.43.10, 1 hit
3.30.465.10, 1 hit
InterProiView protein in InterPro
IPR025650 Alkyl-DHAP_Synthase
IPR016166 FAD-bd_PCMH
IPR036318 FAD-bd_PCMH-like_sf
IPR016167 FAD-bd_PCMH_sub1
IPR016169 FAD-bd_PCMH_sub2
IPR016164 FAD-linked_Oxase-like_C
IPR004113 FAD-linked_oxidase_C
IPR006094 Oxid_FAD_bind_N
IPR016171 Vanillyl_alc_oxidase_C-sub2
PANTHERiPTHR11748:SF3 PTHR11748:SF3, 1 hit
PfamiView protein in Pfam
PF02913 FAD-oxidase_C, 1 hit
PF01565 FAD_binding_4, 1 hit
SUPFAMiSSF55103 SSF55103, 1 hit
SSF56176 SSF56176, 1 hit
PROSITEiView protein in PROSITE
PS51387 FAD_PCMH, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

O00116-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEAAAAAGG TGLGAGASYG SAADRDRDPD PDRAGRRLRV LSGHLLGRPR
60 70 80 90 100
EALSTNECKA RRAASAATAA PTATPAAQES GTIPKKRQEV MKWNGWGYND
110 120 130 140 150
SKFIFNKKGQ IELTGKRYPL SGMGLPTFKE WIQNTLGVNV EHKTTSKASL
160 170 180 190 200
NPSDTPPSVV NEDFLHDLKE TNISYSQEAD DRVFRAHGHC LHEIFLLREG
210 220 230 240 250
MFERIPDIVL WPTCHDDVVK IVNLACKYNL CIIPIGGGTS VSYGLMCPAD
260 270 280 290 300
ETRTIISLDT SQMNRILWVD ENNLTAHVEA GITGQELERQ LKESGYCTGH
310 320 330 340 350
EPDSLEFSTV GGWVSTRASG MKKNIYGNIE DLVVHIKMVT PRGIIEKSCQ
360 370 380 390 400
GPRMSTGPDI HHFIMGSEGT LGVITEATIK IRPVPEYQKY GSVAFPNFEQ
410 420 430 440 450
GVACLREIAK QRCAPASIRL MDNKQFQFGH ALKPQVSSIF TSFLDGLKKF
460 470 480 490 500
YITKFKGFDP NQLSVATLLF EGDREKVLQH EKQVYDIAAK FGGLAAGEDN
510 520 530 540 550
GQRGYLLTYV IAYIRDLALE YYVLGESFET SAPWDRVVDL CRNVKERITR
560 570 580 590 600
ECKEKGVQFA PFSTCRVTQT YDAGACIYFY FAFNYRGISD PLTVFEQTEA
610 620 630 640 650
AAREEILANG GSLSHHHGVG KLRKQWLKES ISDVGFGMLK SVKEYVDPNN

IFGNRNLL
Length:658
Mass (Da):72,912
Last modified:July 1, 1997 - v1
Checksum:i0E97AE86B513DF32
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GWA2A0A1B0GWA2_HUMAN
Alkylglycerone-phosphate synthase
AGPS
543Annotation score:
B8ZZ81B8ZZ81_HUMAN
Alkylglycerone-phosphate synthase
AGPS
189Annotation score:
A0A2R8YEL0A0A2R8YEL0_HUMAN
Alkylglycerone-phosphate synthase
AGPS
560Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066929182R → Q in RCDP3; severely reduced protein levels. 1 Publication1
Natural variantiVAR_025895309T → I in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434412EnsemblClinVar.1
Natural variantiVAR_005002419R → H in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434411EnsemblClinVar.1
Natural variantiVAR_025896469L → P in RCDP3. 1 PublicationCorresponds to variant dbSNP:rs121434413EnsemblClinVar.1
Natural variantiVAR_066930471E → K in RCDP3; severely reduced protein levels. 1 Publication1
Natural variantiVAR_066931568T → M in RCDP3; does not affect protein levels. 1 PublicationCorresponds to variant dbSNP:rs387907214EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09443 mRNA Translation: CAA70591.1
AY544121 mRNA Translation: AAT11152.1
AK314259 mRNA Translation: BAG36924.1
BC141820 mRNA Translation: AAI41821.1
CCDSiCCDS2275.1
RefSeqiNP_003650.1, NM_003659.3
UniGeneiHs.516543

Genome annotation databases

EnsembliENST00000264167; ENSP00000264167; ENSG00000018510
GeneIDi8540
KEGGihsa:8540
UCSCiuc002ull.3 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09443 mRNA Translation: CAA70591.1
AY544121 mRNA Translation: AAT11152.1
AK314259 mRNA Translation: BAG36924.1
BC141820 mRNA Translation: AAI41821.1
CCDSiCCDS2275.1
RefSeqiNP_003650.1, NM_003659.3
UniGeneiHs.516543

3D structure databases

ProteinModelPortaliO00116
SMRiO00116
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114110, 30 interactors
CORUMiO00116
IntActiO00116, 19 interactors
STRINGi9606.ENSP00000264167

Chemistry databases

SwissLipidsiSLP:000000611

PTM databases

iPTMnetiO00116
PhosphoSitePlusiO00116
SwissPalmiO00116

Polymorphism and mutation databases

BioMutaiAGPS

Proteomic databases

EPDiO00116
MaxQBiO00116
PaxDbiO00116
PeptideAtlasiO00116
PRIDEiO00116
ProteomicsDBi47718

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264167; ENSP00000264167; ENSG00000018510
GeneIDi8540
KEGGihsa:8540
UCSCiuc002ull.3 human

Organism-specific databases

CTDi8540
DisGeNETi8540
EuPathDBiHostDB:ENSG00000018510.12
GeneCardsiAGPS
HGNCiHGNC:327 AGPS
HPAiHPA030209
HPA030210
HPA030211
MalaCardsiAGPS
MIMi600121 phenotype
603051 gene
neXtProtiNX_O00116
OpenTargetsiENSG00000018510
Orphaneti309803 Rhizomelic chondrodysplasia punctata type 3
PharmGKBiPA24624
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1233 Eukaryota
COG0277 LUCA
GeneTreeiENSGT00530000063515
HOGENOMiHOG000231620
HOVERGENiHBG004179
InParanoidiO00116
KOiK00803
OMAiSVPWDRC
OrthoDBiEOG091G07KJ
PhylomeDBiO00116
TreeFamiTF313830

Enzyme and pathway databases

UniPathwayi
UPA00781

BioCyciMetaCyc:HS00389-MONOMER
ReactomeiR-HSA-75896 Plasmalogen biosynthesis
R-HSA-9033241 Peroxisomal protein import
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins

Miscellaneous databases

ChiTaRSiAGPS human
GenomeRNAii8540
PROiPR:O00116
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000018510 Expressed in 211 organ(s), highest expression level in bone marrow
CleanExiHS_AGPS
ExpressionAtlasiO00116 baseline and differential
GenevisibleiO00116 HS

Family and domain databases

Gene3Di1.10.45.10, 1 hit
3.30.43.10, 1 hit
3.30.465.10, 1 hit
InterProiView protein in InterPro
IPR025650 Alkyl-DHAP_Synthase
IPR016166 FAD-bd_PCMH
IPR036318 FAD-bd_PCMH-like_sf
IPR016167 FAD-bd_PCMH_sub1
IPR016169 FAD-bd_PCMH_sub2
IPR016164 FAD-linked_Oxase-like_C
IPR004113 FAD-linked_oxidase_C
IPR006094 Oxid_FAD_bind_N
IPR016171 Vanillyl_alc_oxidase_C-sub2
PANTHERiPTHR11748:SF3 PTHR11748:SF3, 1 hit
PfamiView protein in Pfam
PF02913 FAD-oxidase_C, 1 hit
PF01565 FAD_binding_4, 1 hit
SUPFAMiSSF55103 SSF55103, 1 hit
SSF56176 SSF56176, 1 hit
PROSITEiView protein in PROSITE
PS51387 FAD_PCMH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiADAS_HUMAN
AccessioniPrimary (citable) accession number: O00116
Secondary accession number(s): A5D8U9, Q2TU35
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 1, 1997
Last modified: November 7, 2018
This is version 166 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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Main funding by: National Institutes of Health

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