• Gene id: 85007

Gene Summary

• Gene Symbol: PHYKPL   Gene   UCSC   Ensembl
• Aliases: AGXT2L2, PHLU
• Gene name: 5-phosphohydroxy-L-lysine phospho-lyase
• Alternate names: 5-phosphohydroxy-L-lysine phospho-lyase, 5-phosphonooxy-L-lysine phospho-lyase, alanine--glyoxylate aminotransferase 2-like 2,
• Gene location: 5q35.3 (178232821: 178207143)     Exons: 18     NC_000005.10
• Gene summary(Entrez): This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicin
• OMIM: 614683

Protein Summary

• Protein general information: Q8IUZ5  
  • Name: 5 phosphohydroxy L lysine phospho lyase (EC 4.2.3.134) (Alanine glyoxylate aminotransferase 2 like 2)
  • Length: 450  
  • Mass: 49711
• Sequence:

  MAADQRPKADTLALRQRLISSSCRLFFPEDPVKIVRAQGQYMYDEQGAEYIDCISNVAHVGHCHPLVVQAAHEQN
  QVLNTNSRYLHDNIVDYAQRLSETLPEQLCVFYFLNSGSEANDLALRLARHYTGHQDVVVLDHAYHGHLSSLIDI
  SPYKFRNLDGQKEWVHVAPLPDTYRGPYREDHPNPAMAYANEVKRVVSSAQEKGRKIAAFFAESLPSVGGQIIPP
  AGYFSQVAEHIRKAGGVFVADEIQVGFGRVGKHFWAFQLQGKDFVPDIVTMGKSIGNGHPVACVAATQPVARAFE
  ATGVEYFNTFGGSPVSCAVGLAVLNVLEKEQLQDHATSVGSFLMQLLGQQKIKHPIVGDVRGVGLFIGVDLIKDE
  ATRTPATEEAAYLVSRLKENYVLLSTDGPGRNILKFKPPMCFSLDNARQVVAKLDAILTDMEEKVRSCETLRLQP

• Structural information:
  • Interpro: IPR005814  IPR015424  IPR015422  IPR015421  
  • Prosite: PS00600
  • CDD: cd00610
  • STRING: ENSP00000310978
• Other Databases: GeneCards:  PHYKPL  Malacards:  PHYKPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0030574	collagen catabolic process	TAS	biological process
GO:0006554	lysine catabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)