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Aliases for PHYKPL Gene

Aliases for PHYKPL Gene

  • 5-Phosphohydroxy-L-Lysine Phospho-Lyase 2 3
  • AGXT2L2 3 4 6
  • Alanine--Glyoxylate Aminotransferase 2-Like 2 3 4
  • Alanine-Glyoxylate Aminotransferase 2-Like 2 2 3
  • 5-Phosphonooxy-L-Lysine Phospho-Lyase 2 3
  • PHLU 3 6
  • EC 4.2.3.134 4
  • EC 2.6.1.44 64
  • EC 2.6.1.11 64
  • EC 2.6.1.13 64
  • EC 2.6.1 64

External Ids for PHYKPL Gene

Previous Symbols for PHYKPL Gene

  • AGXT2L2

Summaries for PHYKPL Gene

Entrez Gene Summary for PHYKPL 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 splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for PHYKPL Gene

PHYKPL (5-Phosphohydroxy-L-Lysine Phospho-Lyase) is a Protein Coding gene. Diseases associated with PHYKPL include phosphohydroxylysinuria. GO annotations related to this gene include pyridoxal phosphate binding and transaminase activity. An important paralog of this gene is AGXT2.

UniProtKB/Swiss-Prot for PHYKPL Gene

  • Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHYKPL Gene

Genomics for PHYKPL Gene

Genomic Location for PHYKPL Gene

Start:
178,208,474 bp from pter
End:
178,232,822 bp from pter
Size:
24,349 bases
Orientation:
Minus strand

Genomic View for PHYKPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHYKPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHYKPL Gene

No data available for Regulatory Elements for PHYKPL Gene

Proteins for PHYKPL Gene

  • Protein details for PHYKPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUZ5-AT2L2_HUMAN
    Recommended name:
    5-phosphohydroxy-L-lysine phospho-lyase
    Protein Accession:
    Q8IUZ5
    Secondary Accessions:
    • A8K7P6
    • B3KN36
    • D3DWP9
    • Q8WYS6
    • Q96HW8

    Protein attributes for PHYKPL Gene

    Size:
    450 amino acids
    Molecular mass:
    49711 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for PHYKPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHYKPL Gene

Proteomics data for PHYKPL Gene at MOPED

Selected DME Specific Peptides for PHYKPL Gene

Post-translational modifications for PHYKPL Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys33

Domains for PHYKPL Gene

UniProtKB/Swiss-Prot:

AT2L2_HUMAN
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.:
    • Q8IUZ5
genes like me logo Genes that share domains with PHYKPL: view

No data available for Gene Families for PHYKPL Gene

Function for PHYKPL Gene

Molecular function for PHYKPL Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=16 uM for 5-phosphohydroxy-L-lysine (at 30 degrees Celsius) {ECO:0000269 PubMed:22241472}; Vmax=256 nmol/min/mg enzyme {ECO:0000269 PubMed:22241472};
UniProtKB/Swiss-Prot CatalyticActivity: (5R)-5-phosphonooxy-L-lysine + H(2)O = (S)-2-amino-6-oxohexanoate + NH(3) + phosphate
UniProtKB/Swiss-Prot Function: Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.

Enzyme Numbers (IUBMB) for PHYKPL Gene

Gene Ontology (GO) - Molecular Function for PHYKPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008483 transaminase activity IEA --
GO:0016829 lyase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with PHYKPL: view
genes like me logo Genes that share phenotypes with PHYKPL: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PHYKPL Gene

Localization for PHYKPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHYKPL Gene

Mitochondrion.

Gene Ontology (GO) - Cellular Components for PHYKPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PHYKPL: view

Pathways for PHYKPL Gene

SuperPathways for PHYKPL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHYKPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PHYKPL: view

No data available for Pathways by source for PHYKPL Gene

Transcripts for PHYKPL Gene

Alternative Splicing Database (ASD) splice patterns (SP) for PHYKPL Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ·
SP1: - - - - - - - - - -
SP2: -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - -
SP11: - - -
SP12: - - - - - -
SP13: -
SP14: - - - - - - - - - - - - - - - -
SP15: - - -
SP16:
SP17: -
SP18: -

ExUns: 11c · 11d ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - -
SP15:
SP16:
SP17:
SP18:

Relevant External Links for PHYKPL Gene

GeneLoc Exon Structure for
PHYKPL
ECgene alternative splicing isoforms for
PHYKPL

Expression for PHYKPL Gene

mRNA expression in normal human tissues for PHYKPL Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for PHYKPL Gene

genes like me logo Genes that share expressions with PHYKPL: view

Orthologs for PHYKPL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PHYKPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGXT2L2 36
  • 98.22 (n)
  • 98.31 (a)
cow
(Bos Taurus)
Mammalia AGXT2L2 36
  • 90.27 (n)
  • 91.76 (a)
PHYKPL 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHYKPL 36
  • 87.04 (n)
  • 87.78 (a)
PHYKPL 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agxt2l2 16
Phykpl 36
  • 86.04 (n)
  • 87.08 (a)
Phykpl 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHYKPL 37
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHYKPL 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910122 36
  • 86.12 (n)
  • 87.97 (a)
chicken
(Gallus gallus)
Aves AGXT2L2 36
  • 70.24 (n)
  • 76.54 (a)
PHYKPL 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHYKPL 37
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PHYKPL 37
  • 66 (a)
OneToOne
zgc:123007 36
  • 65.91 (n)
  • 67.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8745 37
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01B11.2 37
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 37
  • 22 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.7120 36
rice
(Oryza sativa)
Liliopsida Os.15830 36
Species with no ortholog for PHYKPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PHYKPL Gene

ENSEMBL:
Gene Tree for PHYKPL (if available)
TreeFam:
Gene Tree for PHYKPL (if available)

Paralogs for PHYKPL Gene

Paralogs for PHYKPL Gene

Selected SIMAP similar genes for PHYKPL Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PHYKPL: view

Variants for PHYKPL Gene

Sequence variations from dbSNP and Humsavar for PHYKPL Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs919259 -- 178,214,441(+) AGGTG(C/T)TTCCC intron-variant
rs1134369 -- 178,226,248(-) AATAC(A/G)AAAAA intron-variant
rs1366223 -- 178,221,487(+) GAGCT(C/T)CTCTG intron-variant
rs1549613 -- 178,234,144(+) caagt(A/C)cctgc upstream-variant-2KB
rs2913746 -- 178,221,856(-) CAGCA(C/G)GAGCC intron-variant

Relevant External Links for PHYKPL Gene

HapMap Linkage Disequilibrium report
PHYKPL
Human Gene Mutation Database (HGMD)
PHYKPL

No data available for Structural Variations from Database of Genomic Variants (DGV) for PHYKPL Gene

Disorders for PHYKPL Gene

(1) OMIM Diseases for PHYKPL Gene (614683)

UniProtKB/Swiss-Prot

AT2L2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for PHYKPL Gene

Search for PHYKPL Gene in MalaCards »
genes like me logo Genes that share disorders with PHYKPL: view

Publications for PHYKPL Gene

  1. Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. (PMID: 22241472) Veiga-da-Cunha M. … Van Schaftingen E. (J. Biol. Chem. 2012) 2 3 4
  2. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. (PMID: 23242558) Veiga-da-Cunha M. … Van Schaftingen E. (J. Inherit. Metab. Dis. 2012) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for PHYKPL Gene

Sources for PHYKPL Gene

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