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Q96RQ9

- OXLA_HUMAN

UniProt

Q96RQ9 - OXLA_HUMAN

Protein

L-amino-acid oxidase

Gene

IL4I1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation By similarity.By similarity

    Catalytic activityi

    An L-amino acid + H2O + O2 = a 2-oxo acid + NH3 + H2O2.

    Cofactori

    FAD.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei89 – 891FADBy similarity
    Binding sitei97 – 971FADBy similarity
    Binding sitei116 – 1161SubstrateBy similarity
    Binding sitei287 – 2871FAD; via amide nitrogen and carbonyl oxygenBy similarity
    Binding sitei398 – 3981SubstrateBy similarity
    Binding sitei481 – 4811FADBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi115 – 1162FADBy similarity
    Nucleotide bindingi490 – 4934FADBy similarity

    GO - Molecular functioni

    1. L-amino-acid oxidase activity Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    ReactomeiREACT_121117. Abnormal metabolism in phenylketonuria.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    L-amino-acid oxidase (EC:1.4.3.2)
    Short name:
    LAAO
    Short name:
    LAO
    Alternative name(s):
    Interleukin-4-induced protein 1
    Short name:
    IL4-induced protein 1
    Protein Fig-1
    Short name:
    hFIG1
    Gene namesi
    Name:IL4I1
    Synonyms:FIG1
    ORF Names:UNQ636/PRO1265
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:19094. IL4I1.

    Subcellular locationi

    Isoform 1 : Lysosome By similarity
    Isoform 2 : Lysosome By similarity

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. lysosome Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38795.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 21211 PublicationAdd
    BLAST
    Chaini22 – 567546L-amino-acid oxidasePRO_0000001710Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi36 ↔ 199By similarity
    Glycosylationi54 – 541N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi134 – 1341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi220 – 2201N-linked (GlcNAc...)1 Publication
    Glycosylationi559 – 5591N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ96RQ9.
    PaxDbiQ96RQ9.
    PRIDEiQ96RQ9.

    PTM databases

    PhosphoSiteiQ96RQ9.

    Expressioni

    Tissue specificityi

    Isoform 1 is primarily found in immune tissues.1 Publication

    Inductioni

    By IL4/interleukin-4.

    Gene expression databases

    ArrayExpressiQ96RQ9.
    BgeeiQ96RQ9.
    GenevestigatoriQ96RQ9.

    Organism-specific databases

    HPAiCAB020724.
    HPA045598.

    Interactioni

    Protein-protein interaction databases

    BioGridi129252. 1 interaction.
    STRINGi9606.ENSP00000342557.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2I8Hmodel-@30-504[»]
    ProteinModelPortaliQ96RQ9.
    SMRiQ96RQ9. Positions 30-505.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG1231.
    HOGENOMiHOG000088141.
    HOVERGENiHBG005729.
    KOiK03334.
    OMAiHCQFDEG.
    OrthoDBiEOG7NGQB9.
    PhylomeDBiQ96RQ9.
    TreeFamiTF313314.

    Family and domain databases

    InterProiIPR002937. Amino_oxidase.
    IPR001613. Flavin_amine_oxidase.
    [Graphical view]
    PfamiPF01593. Amino_oxidase. 1 hit.
    [Graphical view]
    PRINTSiPR00757. AMINEOXDASEF.

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative promoter usage and alternative splicing. Align

    Isoform 1 (identifier: Q96RQ9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAPLALHLLV LVPILLSLVA SQDWKAERSQ DPFEKCMQDP DYEQLLKVVT    50
    WGLNRTLKPQ RVIVVGAGVA GLVAAKVLSD AGHKVTILEA DNRIGGRIFT 100
    YRDQNTGWIG ELGAMRMPSS HRILHKLCQG LGLNLTKFTQ YDKNTWTEVH 150
    EVKLRNYVVE KVPEKLGYAL RPQEKGHSPE DIYQMALNQA LKDLKALGCR 200
    KAMKKFERHT LLEYLLGEGN LSRPAVQLLG DVMSEDGFFY LSFAEALRAH 250
    SCLSDRLQYS RIVGGWDLLP RALLSSLSGL VLLNAPVVAM TQGPHDVHVQ 300
    IETSPPARNL KVLKADVVLL TASGPAVKRI TFSPPLPRHM QEALRRLHYV 350
    PATKVFLSFR RPFWREEHIE GGHSNTDRPS RMIFYPPPRE GALLLASYTW 400
    SDAAAAFAGL SREEALRLAL DDVAALHGPV VRQLWDGTGV VKRWAEDQHS 450
    QGGFVVQPPA LWQTEKDDWT VPYGRIYFAG EHTAYPHGWV ETAVKSALRA 500
    AIKINSRKGP ASDTASPEGH ASDMEGQGHV HGVASSPSHD LAKEEGSHPP 550
    VQGQLSLQNT THTRTSH 567
    Length:567
    Mass (Da):62,881
    Last modified:December 1, 2001 - v1
    Checksum:iFFF953CB28D22F19
    GO
    Isoform 2 (identifier: Q96RQ9-2) [UniParc]FASTAAdd to Basket

    Also known as: IL4I1_2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-5: MAPLA → MPNDDFCPGLTIKAMGAERAPQRQPCT

    Note: Uses the promoter of the upstream NUP62 gene and shares the first 2 non-coding exons with NUP62.

    Show »
    Length:589
    Mass (Da):65,328
    Checksum:i61FEFA634DF56B49
    GO

    Sequence cautioni

    The sequence BAB84923.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI54291.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI54292.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI54293.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti24 – 241W → R in AAH64378. (PubMed:15489334)Curated
    Sequence conflicti114 – 1141A → T in CAI54291. (PubMed:16029492)Curated
    Sequence conflicti114 – 1141A → T in CAI54293. (PubMed:16029492)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti501 – 5011A → S.
    Corresponds to variant rs2290772 [ dbSNP | Ensembl ].
    VAR_048260

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 55MAPLA → MPNDDFCPGLTIKAMGAERA PQRQPCT in isoform 2. 2 PublicationsVSP_017173

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293462 mRNA. Translation: AAK73362.1.
    AF293463 Genomic DNA. Translation: AAK73363.1.
    AJ880386 mRNA. Translation: CAI54291.1. Different initiation.
    AJ880387 mRNA. Translation: CAI54292.1. Different initiation.
    AJ880388 mRNA. Translation: CAI54293.1. Different initiation.
    DQ079587 mRNA. Translation: AAZ32711.1.
    DQ079588 mRNA. Translation: AAZ32712.1.
    DQ079589 mRNA. Translation: AAZ32713.1.
    AK074097 mRNA. Translation: BAB84923.1. Different initiation.
    AY358933 mRNA. Translation: AAQ89292.1.
    CH471177 Genomic DNA. Translation: EAW52575.1.
    BC064378 mRNA. Translation: AAH64378.2.
    BC090852 mRNA. Translation: AAH90852.2.
    CCDSiCCDS12786.1. [Q96RQ9-2]
    CCDS12787.1. [Q96RQ9-1]
    RefSeqiNP_001244946.1. NM_001258017.1. [Q96RQ9-2]
    NP_001244947.1. NM_001258018.1. [Q96RQ9-2]
    NP_690863.1. NM_152899.1. [Q96RQ9-1]
    NP_758962.1. NM_172374.2. [Q96RQ9-2]
    UniGeneiHs.574492.
    Hs.741750.

    Genome annotation databases

    EnsembliENST00000341114; ENSP00000342557; ENSG00000104951. [Q96RQ9-2]
    ENST00000391826; ENSP00000375702; ENSG00000104951. [Q96RQ9-1]
    ENST00000595948; ENSP00000472474; ENSG00000104951. [Q96RQ9-2]
    GeneIDi259307.
    KEGGihsa:259307.
    UCSCiuc002pqt.1. human. [Q96RQ9-1]
    uc002pqu.2. human. [Q96RQ9-2]

    Polymorphism databases

    DMDMi20138284.

    Keywords - Coding sequence diversityi

    Alternative promoter usage, Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293462 mRNA. Translation: AAK73362.1 .
    AF293463 Genomic DNA. Translation: AAK73363.1 .
    AJ880386 mRNA. Translation: CAI54291.1 . Different initiation.
    AJ880387 mRNA. Translation: CAI54292.1 . Different initiation.
    AJ880388 mRNA. Translation: CAI54293.1 . Different initiation.
    DQ079587 mRNA. Translation: AAZ32711.1 .
    DQ079588 mRNA. Translation: AAZ32712.1 .
    DQ079589 mRNA. Translation: AAZ32713.1 .
    AK074097 mRNA. Translation: BAB84923.1 . Different initiation.
    AY358933 mRNA. Translation: AAQ89292.1 .
    CH471177 Genomic DNA. Translation: EAW52575.1 .
    BC064378 mRNA. Translation: AAH64378.2 .
    BC090852 mRNA. Translation: AAH90852.2 .
    CCDSi CCDS12786.1. [Q96RQ9-2 ]
    CCDS12787.1. [Q96RQ9-1 ]
    RefSeqi NP_001244946.1. NM_001258017.1. [Q96RQ9-2 ]
    NP_001244947.1. NM_001258018.1. [Q96RQ9-2 ]
    NP_690863.1. NM_152899.1. [Q96RQ9-1 ]
    NP_758962.1. NM_172374.2. [Q96RQ9-2 ]
    UniGenei Hs.574492.
    Hs.741750.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2I8H model - @ 30-504 [» ]
    ProteinModelPortali Q96RQ9.
    SMRi Q96RQ9. Positions 30-505.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129252. 1 interaction.
    STRINGi 9606.ENSP00000342557.

    Chemistry

    DrugBanki DB03147. Flavin adenine dinucleotide.

    PTM databases

    PhosphoSitei Q96RQ9.

    Polymorphism databases

    DMDMi 20138284.

    Proteomic databases

    MaxQBi Q96RQ9.
    PaxDbi Q96RQ9.
    PRIDEi Q96RQ9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341114 ; ENSP00000342557 ; ENSG00000104951 . [Q96RQ9-2 ]
    ENST00000391826 ; ENSP00000375702 ; ENSG00000104951 . [Q96RQ9-1 ]
    ENST00000595948 ; ENSP00000472474 ; ENSG00000104951 . [Q96RQ9-2 ]
    GeneIDi 259307.
    KEGGi hsa:259307.
    UCSCi uc002pqt.1. human. [Q96RQ9-1 ]
    uc002pqu.2. human. [Q96RQ9-2 ]

    Organism-specific databases

    CTDi 259307.
    GeneCardsi GC19M050392.
    HGNCi HGNC:19094. IL4I1.
    HPAi CAB020724.
    HPA045598.
    MIMi 609742. gene.
    neXtProti NX_Q96RQ9.
    PharmGKBi PA38795.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1231.
    HOGENOMi HOG000088141.
    HOVERGENi HBG005729.
    KOi K03334.
    OMAi HCQFDEG.
    OrthoDBi EOG7NGQB9.
    PhylomeDBi Q96RQ9.
    TreeFami TF313314.

    Enzyme and pathway databases

    Reactomei REACT_121117. Abnormal metabolism in phenylketonuria.

    Miscellaneous databases

    ChiTaRSi IL4I1. human.
    GenomeRNAii 259307.
    NextBioi 93149.
    PROi Q96RQ9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96RQ9.
    Bgeei Q96RQ9.
    Genevestigatori Q96RQ9.

    Family and domain databases

    InterProi IPR002937. Amino_oxidase.
    IPR001613. Flavin_amine_oxidase.
    [Graphical view ]
    Pfami PF01593. Amino_oxidase. 1 hit.
    [Graphical view ]
    PRINTSi PR00757. AMINEOXDASEF.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human homolog of the IL-4 induced gene-1 (Fig1)."
      Chavan S.S., Tian W., Hsueh K., Jawaheer D., Gregersen P.K., Chu C.C.
      Biochim. Biophys. Acta 1576:70-80(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Alternative pre-mRNA processing regulates cell-type specific expression of the IL4l1 and NUP62 genes."
      Wiemann S., Kolb-Kokocinski A., Poustka A.
      BMC Biol. 3:16-16(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE PROMOTER USAGE, SUBCELLULAR LOCATION.
    3. "Interleukin-4 induced gene-1 variant (IL4I1_v2) is expressed during spermatogenesis and is decreased in pathologies with hypospermatogenesis."
      Chu C.C., Reese S.T., George J., Tian W., Yuan L., Millan C., Marmar J.L., Benoff S.
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Testis.
    4. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Spleen.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Ovary and PNS.
    8. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 22-36.
    9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-220.
      Tissue: Liver.

    Entry informationi

    Entry nameiOXLA_HUMAN
    AccessioniPrimary (citable) accession number: Q96RQ9
    Secondary accession number(s): Q1WMJ3
    , Q4GZN1, Q4GZN2, Q6P2Q3, Q8TEM5, Q96RQ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 117 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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

    External Data

    Dasty 3