Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85007
Gene name	5-phosphohydroxy-L-lysine phospho-lyase
Gene symbol	PHYKPL
Synonyms (NCBI Gene)	AGXT2L2PHLU
Chromosome	5
Chromosome location	5q35.3
Summary	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

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

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
MIRT459298	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT459297	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT459296	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT459295	hsa-miR-4651	PAR-CLIP	23592263
MIRT459294	hsa-miR-608	PAR-CLIP	23592263
MIRT459293	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT459292	hsa-miR-3132	PAR-CLIP	23592263
MIRT459291	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT459290	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT459289	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT459288	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT459287	hsa-miR-1258	PAR-CLIP	23592263
MIRT459285	hsa-miR-4266	PAR-CLIP	23592263
MIRT459286	hsa-miR-1229-5p	PAR-CLIP	23592263
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
MIRT459298	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT459297	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT459296	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT459295	hsa-miR-4651	PAR-CLIP	23592263
MIRT459294	hsa-miR-608	PAR-CLIP	23592263
MIRT459293	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT459292	hsa-miR-3132	PAR-CLIP	23592263
MIRT459291	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT459290	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT459289	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT459288	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT459287	hsa-miR-1258	PAR-CLIP	23592263
MIRT459285	hsa-miR-4266	PAR-CLIP	23592263
MIRT459286	hsa-miR-1229-5p	PAR-CLIP	23592263

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
GO:0016829	Function	Lyase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 31515488, 32296183

MIM	HGNC	e!Ensembl
614683	28249	ENSG00000175309

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

MAADQRPKADTLALRQRLISSSCRLFFPEDPVKIVRAQGQYMYDEQGAEYIDCISNVAHV
GHCHPLVVQAAHEQNQVLNTNSRYLHDNIVDYAQRLSETLPEQLCVFYFLNSGSEANDLA
LRLARHYTGHQDVVVLDHAYHGHLSSLIDISPYKFRNLDGQKEWVHVAPLPDTYRGPYRE
DHPNPAMAYANEVKRVVSSAQEKGRKIAAFFAESLPSVGGQIIPPAGYFSQVAEHIRKAG
GVFVADEIQVGFGRVGKHFWAFQLQGKDFVPDIVTMGKSIGNGHPVACVAATQPVARAFE
ATGVEYFNTFGGSPVSCAVGLAVLNVLEKEQLQDHATSVGSFLMQLLGQQKIKHPIVGDV
RGVGLFIGVDLIKDEATRTPATEEAAYLVSRLKENYVLLSTDGPGRNILKFKPPMCFSLD
NARQVVAKLDAILTDMEEKVRSCETLRLQP

Sequence length

450

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		Collagen degradation Lysine catabolism

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs142181517	RCV005888866
Nonpapillary renal cell carcinoma	Uncertain significance	rs142181517	RCV005888865
Phosphohydroxylysinuria	no classifications from unflagged records; Uncertain significance	rs201105857, rs142181517	RCV000032769 RCV000032770
PHYKPL-related disorder	Likely benign; Benign	rs114298500, rs7707147, rs149960850, rs377115731, rs142142484, rs116735771, rs148658218	RCV003909294 RCV003919707 RCV003912051 RCV003897187 RCV003964110 RCV003981252 RCV003954514
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs142181517	RCV005888867

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Osteosarcoma	Associate	40148931

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