Version 5.4
Homo sapiens Protein: AGXT2L2
Summary
InnateDB Protein IDBP-60919.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGXT2L2
Protein Name alanine-glyoxylate aminotransferase 2-like 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000310978
InnateDB Gene IDBG-60915 (AGXT2L2)
Protein Structure
UniProt Annotation
Function Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. {ECO:0000269PubMed:22241472}.
Subcellular Localization Mitochondrion {ECO:0000305}.
Disease Associations Phosphohydroxylysinuria (PHLU) [MIM:615011]: A condition characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. {ECO:0000269PubMed:23242558}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008483 transaminase activity
GO:0016829 lyase activity
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0008152 metabolic process
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR005814 Aminotransferase class-III
IPR015424 Pyridoxal phosphate-dependent transferase
PFAM PF00202
PRINTS
PIRSF PIRSF000521
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IUZ5
PhosphoSite PhosphoSite-Q8IUZ5
TrEMBL H0YAK5
UniProt Splice Variant
Entrez Gene 85007
UniGene Hs.248746
RefSeq NP_699204
HUGO HGNC:28249
OMIM 614683
CCDS CCDS4434
HPRD 18482
IMGT
EMBL AC136601 AC136632 AF318375 AK023470 AK292061 BC008009 BC037567 BC110335 CH471165
GenPept AAH08009 AAH37567 AAI10336 AAL55882 BAF84750 BAG51198 EAW53836 EAW53841

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca