PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85007
Gene name Gene Name - the full gene name approved by the HGNC.
5-phosphohydroxy-L-lysine phospho-lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHYKPL
Synonyms (NCBI Gene) Gene synonyms aliases
AGXT2L2, PHLU
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs142181517 T>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201105857 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
miRTarBase ID miRNA Experiments Reference
MIRT459303 hsa-miR-1179 PAR-CLIP 23592263
MIRT459301 hsa-miR-4695-5p PAR-CLIP 23592263
MIRT459302 hsa-miR-4779 PAR-CLIP 23592263
MIRT459300 hsa-miR-6732-5p PAR-CLIP 23592263
MIRT459299 hsa-miR-765 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21044950, 25416956, 29892012, 31515488
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IEA
GO:0005759 Component Mitochondrial matrix TAS
GO:0008483 Function Transaminase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614683 28249 ENSG00000175309
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IUZ5
Protein name 5-phosphohydroxy-L-lysine phospho-lyase (EC 4.2.3.134) (Alanine--glyoxylate aminotransferase 2-like 2)
Protein function Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00202 Aminotran_3 28 → 433 Aminotransferase class-III Domain
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Metabolic pathways 		  Collagen degradation
Lysine catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Phosphohydroxylysinuria phosphohydroxylysinuria rs201105857 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Osteosarcoma Associate 40148931