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Q96RQ9

- OXLA_HUMAN

UniProt

Q96RQ9 - OXLA_HUMAN

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Protein

L-amino-acid oxidase

Gene
IL4I1, FIG1, UNQ636/PRO1265
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation 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 – 891FAD By similarity
Binding sitei97 – 971FAD By similarity
Binding sitei116 – 1161Substrate By similarity
Binding sitei287 – 2871FAD; via amide nitrogen and carbonyl oxygen By similarity
Binding sitei398 – 3981Substrate By similarity
Binding sitei481 – 4811FAD By similarity

Regions

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

GO - Molecular functioni

  1. L-amino-acid oxidase activity Source: Reactome
Complete GO annotation...

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 1 Publication
Isoform 2 : Lysosome By similarity 1 Publication

GO - Cellular componenti

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

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 ↔ 199 By similarity
Glycosylationi54 – 541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi134 – 1341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi220 – 2201N-linked (GlcNAc...)1 Publication
Glycosylationi559 – 5591N-linked (GlcNAc...) Reviewed prediction

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.

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.

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. VSP_017173

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241W → R in AAH64378. 1 Publication
Sequence conflicti114 – 1141A → T in CAI54291. 1 Publication
Sequence conflicti114 – 1141A → T in CAI54293. 1 Publication

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.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 116 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

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