PHYKPL
entrez
85007
canonical
uniprot
Q8IUZ5
canonical
ensembl
ENSG00000175309
resolver
ensp
ENSP00000310978
resolver
ensp
ENSP00000321290
resolver
ensp
ENSP00000555050
resolver
ensp
ENSP00000555052
resolver
ensp
ENSP00000555061
resolver
ensp
ENSP00000555069
resolver
ensp
ENSP00000665001
resolver
ensp
ENSP00000717596
resolver
ensp
ENSP00000717599
resolver
ensp
ENSP00000717601
resolver
ensp
ENSP00000734485
resolver
genesymbol
PHYKPL
resolver
genesymbol_syn
AGXT2L2
resolver
hgnc
HGNC:28249
resolver
uniprot
A8K7P6
resolver
uniprot
B3KN36
resolver
uniprot
D3DWP9
resolver
uniprot
Q8WYS6
resolver
uniprot
Q96HW8
resolver
uniprot_entry
AT2L2_HUMAN
resolver
uniprot_sec
A8K7P6
resolver
uniprot_sec
B3KN36
resolver
uniprot_sec
D3DWP9
resolver
uniprot_sec
Q8WYS6
resolver
uniprot_sec
Q96HW8
resolver
amino_acid_sequence
MAADQRPKADTLALRQRLISSSCRLFFPEDPVKIVRAQGQYMYDEQGAEYIDCISNVAHVGHCHPLVVQAAHEQNQVLNTNSRYLHDNIVDYAQRLSETLPEQLCVFYFLNSGSEANDLALRLARHYTGHQDVVVLDHAYHGHLSSLIDISPYKFRNLDGQKEWVHVAPLPDTYRGPYREDHPNPAMAYANEVKRVVSSAQEKGRKIAAFFAESLPSVGGQIIPPAGYFSQVAEHIRKAGGVFVADEIQVGFGRVGKHFWAFQLQGKDFVPDIVTMGKSIGNGHPVACVAATQPVARAFEATGVEYFNTFGGSPVSCAVGLAVLNVLEKEQLQDHATSVGSFLMQLLGQQKIKHPIVGDVRGVGLFIGVDLIKDEATRTPATEEAAYLVSRLKENYVLLSTDGPGRNILKFKPPMCFSLDNARQVVAKLDAILTDMEEKVRSCETLRLQP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23242558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.3.134
uniprot
proteins
function
FUNCTION: Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. {ECO:0000269|PubMed:22241472}.
uniprot
proteins
mass_dalton
49711
uniprot
proteins
protein_family
Class-III pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
22241472
uniprot
proteins
pubmed
23242558
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
450
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:22241472}.
uniprot
proteins