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O00116

- ADAS_HUMAN

UniProt

O00116 - ADAS_HUMAN

Protein

Alkyldihydroxyacetonephosphate synthase, peroxisomal

Gene

AGPS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
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    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

    FAD.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei419 – 4191Important for enzyme activityBy similarity
    Binding sitei515 – 5151SubstrateBy similarity
    Active sitei578 – 5781Proton donor/acceptorBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi234 – 2407FADBy similarity
    Nucleotide bindingi303 – 3097FADBy similarity
    Nucleotide bindingi316 – 3194FADBy similarity
    Nucleotide bindingi368 – 3747FADBy similarity

    GO - Molecular functioni

    1. alkylglycerone-phosphate synthase activity Source: UniProtKB
    2. FAD binding Source: UniProtKB
    3. UDP-N-acetylmuramate dehydrogenase activity Source: InterPro

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. ether lipid biosynthetic process Source: UniProtKB
    3. lipid biosynthetic process Source: MGI
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    ReactomeiREACT_1407. Plasmalogen biosynthesis.
    UniPathwayiUPA00781.

    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
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:327. AGPS.

    Subcellular locationi

    Peroxisome membrane
    Note: Localized to the inner aspect of the peroxisomal membrane.

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. membrane Source: UniProtKB
    3. mitochondrion Source: UniProt
    4. nucleolus Source: HPA
    5. peroxisomal matrix Source: Reactome
    6. peroxisomal membrane Source: UniProtKB
    7. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: A disease characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821R → Q in RCDP3; severely reduced protein levels. 1 Publication
    VAR_066929
    Natural varianti309 – 3091T → I in RCDP3. 1 Publication
    VAR_025895
    Natural varianti419 – 4191R → H in RCDP3. 1 Publication
    VAR_005002
    Natural varianti469 – 4691L → P in RCDP3. 1 Publication
    VAR_025896
    Natural varianti471 – 4711E → K in RCDP3; severely reduced protein levels. 1 Publication
    VAR_066930
    Natural varianti568 – 5681T → M in RCDP3; does not affect protein levels. 1 Publication
    VAR_066931

    Keywords - Diseasei

    Cataract, Disease mutation, Dwarfism, Rhizomelic chondrodysplasia punctata

    Organism-specific databases

    MIMi600121. phenotype.
    Orphaneti309803. Rhizomelic chondrodysplasia punctata type 3.
    PharmGKBiPA24624.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 5858PeroxisomeBy similarityAdd
    BLAST
    Chaini59 – 658600Alkyldihydroxyacetonephosphate synthase, peroxisomalPRO_0000020431Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei102 – 1021N6-acetyllysine1 Publication
    Modified residuei347 – 3471N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO00116.
    PaxDbiO00116.
    PeptideAtlasiO00116.
    PRIDEiO00116.

    PTM databases

    PhosphoSiteiO00116.

    Expressioni

    Gene expression databases

    ArrayExpressiO00116.
    BgeeiO00116.
    CleanExiHS_AGPS.
    GenevestigatoriO00116.

    Organism-specific databases

    HPAiHPA030209.
    HPA030210.
    HPA030211.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    BioGridi114110. 15 interactions.
    IntActiO00116. 7 interactions.
    STRINGi9606.ENSP00000264167.

    Structurei

    3D structure databases

    ProteinModelPortaliO00116.
    SMRiO00116. Positions 81-658.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini202 – 384183FAD-binding PCMH-typePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni615 – 6173Important for enzyme activityBy similarity

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 87Poly-Ala

    Sequence similaritiesi

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

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0277.
    HOGENOMiHOG000231620.
    HOVERGENiHBG004179.
    InParanoidiO00116.
    KOiK00803.
    OMAiSSALECP.
    OrthoDBiEOG7DRJ2W.
    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

    MAEAAAAAGG TGLGAGASYG SAADRDRDPD PDRAGRRLRV LSGHLLGRPR    50
    EALSTNECKA RRAASAATAA PTATPAAQES GTIPKKRQEV MKWNGWGYND 100
    SKFIFNKKGQ IELTGKRYPL SGMGLPTFKE WIQNTLGVNV EHKTTSKASL 150
    NPSDTPPSVV NEDFLHDLKE TNISYSQEAD DRVFRAHGHC LHEIFLLREG 200
    MFERIPDIVL WPTCHDDVVK IVNLACKYNL CIIPIGGGTS VSYGLMCPAD 250
    ETRTIISLDT SQMNRILWVD ENNLTAHVEA GITGQELERQ LKESGYCTGH 300
    EPDSLEFSTV GGWVSTRASG MKKNIYGNIE DLVVHIKMVT PRGIIEKSCQ 350
    GPRMSTGPDI HHFIMGSEGT LGVITEATIK IRPVPEYQKY GSVAFPNFEQ 400
    GVACLREIAK QRCAPASIRL MDNKQFQFGH ALKPQVSSIF TSFLDGLKKF 450
    YITKFKGFDP NQLSVATLLF EGDREKVLQH EKQVYDIAAK FGGLAAGEDN 500
    GQRGYLLTYV IAYIRDLALE YYVLGESFET SAPWDRVVDL CRNVKERITR 550
    ECKEKGVQFA PFSTCRVTQT YDAGACIYFY FAFNYRGISD PLTVFEQTEA 600
    AAREEILANG GSLSHHHGVG KLRKQWLKES ISDVGFGMLK SVKEYVDPNN 650
    IFGNRNLL 658
    Length:658
    Mass (Da):72,912
    Last modified:July 1, 1997 - v1
    Checksum:i0E97AE86B513DF32
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821R → Q in RCDP3; severely reduced protein levels. 1 Publication
    VAR_066929
    Natural varianti309 – 3091T → I in RCDP3. 1 Publication
    VAR_025895
    Natural varianti419 – 4191R → H in RCDP3. 1 Publication
    VAR_005002
    Natural varianti469 – 4691L → P in RCDP3. 1 Publication
    VAR_025896
    Natural varianti471 – 4711E → K in RCDP3; severely reduced protein levels. 1 Publication
    VAR_066930
    Natural varianti568 – 5681T → M in RCDP3; does not affect protein levels. 1 Publication
    VAR_066931

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.2. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y09443 mRNA. Translation: CAA70591.1 .
    AY544121 mRNA. Translation: AAT11152.1 .
    AK314259 mRNA. Translation: BAG36924.1 .
    BC141820 mRNA. Translation: AAI41821.1 .
    CCDSi CCDS2275.1.
    RefSeqi NP_003650.1. NM_003659.3.
    UniGenei Hs.516543.

    3D structure databases

    ProteinModelPortali O00116.
    SMRi O00116. Positions 81-658.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114110. 15 interactions.
    IntActi O00116. 7 interactions.
    STRINGi 9606.ENSP00000264167.

    PTM databases

    PhosphoSitei O00116.

    Proteomic databases

    MaxQBi O00116.
    PaxDbi O00116.
    PeptideAtlasi O00116.
    PRIDEi O00116.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264167 ; ENSP00000264167 ; ENSG00000018510 .
    GeneIDi 8540.
    KEGGi hsa:8540.
    UCSCi uc002ull.2. human.

    Organism-specific databases

    CTDi 8540.
    GeneCardsi GC02P178221.
    HGNCi HGNC:327. AGPS.
    HPAi HPA030209.
    HPA030210.
    HPA030211.
    MIMi 600121. phenotype.
    603051. gene.
    neXtProti NX_O00116.
    Orphaneti 309803. Rhizomelic chondrodysplasia punctata type 3.
    PharmGKBi PA24624.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0277.
    HOGENOMi HOG000231620.
    HOVERGENi HBG004179.
    InParanoidi O00116.
    KOi K00803.
    OMAi SSALECP.
    OrthoDBi EOG7DRJ2W.
    PhylomeDBi O00116.
    TreeFami TF313830.

    Enzyme and pathway databases

    UniPathwayi UPA00781 .
    Reactomei REACT_1407. Plasmalogen biosynthesis.

    Miscellaneous databases

    ChiTaRSi AGPS. human.
    GenomeRNAii 8540.
    NextBioi 31988.
    PROi O00116.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00116.
    Bgeei O00116.
    CleanExi HS_AGPS.
    Genevestigatori O00116.

    Family and domain databases

    Gene3Di 3.30.43.10. 1 hit.
    3.30.465.10. 1 hit.
    InterProi IPR025650. 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 ]
    PANTHERi PTHR11748:SF3. PTHR11748:SF3. 1 hit.
    Pfami PF02913. FAD-oxidase_C. 1 hit.
    PF01565. FAD_binding_4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55103. SSF55103. 2 hits.
    SSF56176. SSF56176. 1 hit.
    PROSITEi PS51387. FAD_PCMH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2."
      de Vet E.C.J.M., van den Broek B.T.E., van den Bosch H.
      Biochim. Biophys. Acta 1346:25-29(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Liver.
    2. "Identification of a human aging-associated gene."
      Kim J.W.
      Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Tongue.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-102 AND LYS-347, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency."
      de Vet E.C.J.M., Ijlst L., Oostheim W., Wanders R.J.A., van den Bosch H.
      J. Biol. Chem. 273:10296-10301(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCDP3 HIS-419.
    9. "Impaired membrane traffic in defective ether lipid biosynthesis."
      Thai T.P., Rodemer C., Jauch A., Hunziker A., Moser A., Gorgas K., Just W.W.
      Hum. Mol. Genet. 10:127-136(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCDP3 ILE-309 AND PRO-469.
    10. "Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3."
      Itzkovitz B., Jiralerspong S., Nimmo G., Loscalzo M., Horovitz D.D., Snowden A., Moser A., Steinberg S., Braverman N.
      Hum. Mutat. 33:189-197(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCDP3 GLN-182; LYS-471 AND MET-568, CHARACTERIZATION OF VARIANTS RCDP3 GLN-182; LYS-471 AND MET-568.

    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: October 1, 2014
    This is version 131 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

    External Data

    Dasty 3