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Protein

Alkyldihydroxyacetonephosphate synthase, peroxisomal

Gene

AGPS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • ether lipid biosynthetic process Source: UniProtKB
  • lipid biosynthetic process Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS00389-MONOMER.
ZFISH:HS00389-MONOMER.
ReactomeiR-HSA-75896. Plasmalogen biosynthesis.
UniPathwayiUPA00781.

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

HGNCiHGNC:327. AGPS.

Subcellular locationi

GO - Cellular componenti

  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleolus Source: HPA
  • peroxisomal matrix Source: Reactome
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
Complete GO annotation...

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 rs121434412dbSNPEnsembl.1
Natural variantiVAR_005002419R → H in RCDP3. 1 PublicationCorresponds to variant rs121434411dbSNPEnsembl.1
Natural variantiVAR_025896469L → P in RCDP3. 1 PublicationCorresponds to variant rs121434413dbSNPEnsembl.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 rs387907214dbSNPEnsembl.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.

PTM databases

iPTMnetiO00116.
PhosphoSitePlusiO00116.
SwissPalmiO00116.

Expressioni

Gene expression databases

BgeeiENSG00000018510.
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. 27 interactors.
IntActiO00116. 15 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

Contains 1 FAD-binding PCMH-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.43.10. 1 hit.
3.30.465.10. 1 hit.
InterProiIPR025650. Alkyl-DHAP_Synthase.
IPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR016167. FAD-bd_2_sub1.
IPR016164. FAD-linked_Oxase-like_C.
IPR004113. FAD-linked_oxidase_C.
IPR006094. Oxid_FAD_bind_N.
[Graphical view]
PANTHERiPTHR11748:SF3. PTHR11748:SF3. 1 hit.
PfamiPF02913. FAD-oxidase_C. 1 hit.
PF01565. FAD_binding_4. 1 hit.
[Graphical view]
SUPFAMiSSF55103. SSF55103. 2 hits.
SSF56176. SSF56176. 1 hit.
PROSITEiPS51387. FAD_PCMH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

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 rs121434412dbSNPEnsembl.1
Natural variantiVAR_005002419R → H in RCDP3. 1 PublicationCorresponds to variant rs121434411dbSNPEnsembl.1
Natural variantiVAR_025896469L → P in RCDP3. 1 PublicationCorresponds to variant rs121434413dbSNPEnsembl.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 rs387907214dbSNPEnsembl.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.

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. 27 interactors.
IntActiO00116. 15 interactors.
STRINGi9606.ENSP00000264167.

Chemistry databases

SwissLipidsiSLP:000000611.

PTM databases

iPTMnetiO00116.
PhosphoSitePlusiO00116.
SwissPalmiO00116.

Polymorphism and mutation databases

BioMutaiAGPS.

Proteomic databases

EPDiO00116.
MaxQBiO00116.
PaxDbiO00116.
PeptideAtlasiO00116.
PRIDEiO00116.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8540.
DisGeNETi8540.
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.
OMAiEIMKWNG.
OrthoDBiEOG091G07KJ.
PhylomeDBiO00116.
TreeFamiTF313830.

Enzyme and pathway databases

UniPathwayiUPA00781.
BioCyciMetaCyc:HS00389-MONOMER.
ZFISH:HS00389-MONOMER.
ReactomeiR-HSA-75896. Plasmalogen biosynthesis.

Miscellaneous databases

ChiTaRSiAGPS. human.
GenomeRNAii8540.
PROiO00116.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000018510.
CleanExiHS_AGPS.
ExpressionAtlasiO00116. baseline and differential.
GenevisibleiO00116. HS.

Family and domain databases

Gene3Di3.30.43.10. 1 hit.
3.30.465.10. 1 hit.
InterProiIPR025650. Alkyl-DHAP_Synthase.
IPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR016167. FAD-bd_2_sub1.
IPR016164. FAD-linked_Oxase-like_C.
IPR004113. FAD-linked_oxidase_C.
IPR006094. Oxid_FAD_bind_N.
[Graphical view]
PANTHERiPTHR11748:SF3. PTHR11748:SF3. 1 hit.
PfamiPF02913. FAD-oxidase_C. 1 hit.
PF01565. FAD_binding_4. 1 hit.
[Graphical view]
SUPFAMiSSF55103. SSF55103. 2 hits.
SSF56176. SSF56176. 1 hit.
PROSITEiPS51387. FAD_PCMH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiADAS_HUMAN
AccessioniPrimary (citable) accession number: O00116
Secondary accession number(s): A5D8U9, Q2TU35
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 1, 1997
Last modified: November 30, 2016
This is version 152 of the entry and version 1 of the sequence. [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. 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.