AGPS

Protein identityUniProt · HPA

UniProt accession

O00116

Gene

AGPS

Ensembl

ENSG00000018510

Chromosome

2

Canonical length

658 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Peroxisomes

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

658 residues, UniProt reviewed canonical sequence.

>O00116|AGPS
     1  MAEAAAAAGG TGLGAGASYG SAADRDRDPD PDRAGRRLRV LSGHLLGRPR EALSTNECKA
    61  RRAASAATAA PTATPAAQES GTIPKKRQEV MKWNGWGYND SKFIFNKKGQ IELTGKRYPL
   121  SGMGLPTFKE WIQNTLGVNV EHKTTSKASL NPSDTPPSVV NEDFLHDLKE TNISYSQEAD
   181  DRVFRAHGHC LHEIFLLREG MFERIPDIVL WPTCHDDVVK IVNLACKYNL CIIPIGGGTS
   241  VSYGLMCPAD ETRTIISLDT SQMNRILWVD ENNLTAHVEA GITGQELERQ LKESGYCTGH
   301  EPDSLEFSTV GGWVSTRASG MKKNIYGNIE DLVVHIKMVT PRGIIEKSCQ GPRMSTGPDI
   361  HHFIMGSEGT LGVITEATIK IRPVPEYQKY GSVAFPNFEQ GVACLREIAK QRCAPASIRL
   421  MDNKQFQFGH ALKPQVSSIF TSFLDGLKKF YITKFKGFDP NQLSVATLLF EGDREKVLQH
   481  EKQVYDIAAK FGGLAAGEDN GQRGYLLTYV IAYIRDLALE YYVLGESFET SAPWDRVVDL
   541  CRNVKERITR ECKEKGVQFA PFSTCRVTQT YDAGACIYFY FAFNYRGISD PLTVFEQTEA
   601  AAREEILANG GSLSHHHGVG KLRKQWLKES ISDVGFGMLK SVKEYVDPNN IFGNRNLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGPS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGPS.

Disease | AllUniProt

Conditions AGPS is implicated in, by any mechanism.

• Rhizomelic chondrodysplasia punctata 3 (RCDP3) MIM:600121

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 815 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Rhizomelic chondrodysplasia punctata type 3
• Rhizomelic chondrodysplasia punctata

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

3.23

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ether lipid biosynthetic process
• lipid biosynthetic process

Molecular functions

• FAD binding
• alkylglycerone-phosphate synthase activity

Cellular components

• cytosol
• membrane
• mitochondrion
• peroxisomal matrix
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• FAD-binding oxidoreductase/transferase, type 4, C-terminal
• FAD linked oxidase, N-terminal
• FAD-linked oxidase-like, C-terminal
• FAD-binding domain, PCMH-type
• FAD-binding, type PCMH, subdomain 1
• FAD-binding, type PCMH, subdomain 2
• Vanillyl-alcohol oxidase, C-terminal subdomain 2
• FAD-binding, type PCMH-like superfamily
• FAD binding domain
• FAD linked oxidases, C-terminal domain
• Alkyldihydroxyacetonephosphate synthase

KeywordsUniProt

• Acetylation
• Cataract
• Dwarfism
• FAD
• Flavoprotein
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Peroxisome
• Phosphoprotein
• Rhizomelic chondrodysplasia punctata
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of AGPS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSPA8