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Aliases for PHYKPL Gene

Aliases for PHYKPL Gene

  • 5-Phosphohydroxy-L-Lysine Phospho-Lyase 2 3
  • Alanine--Glyoxylate Aminotransferase 2-Like 2 3 4
  • Alanine-Glyoxylate Aminotransferase 2-Like 2 2 3
  • 5-Phosphonooxy-L-Lysine Phospho-Lyase 2 3
  • AGXT2L2 3 4
  • EC 4.2.3.134 4
  • EC 2.6.1.44 63
  • EC 2.6.1.11 63
  • EC 2.6.1.13 63
  • EC 2.6.1 63
  • PHLU 3

External Ids for PHYKPL Gene

Previous HGNC Symbols for PHYKPL Gene

  • AGXT2L2

Previous GeneCards Identifiers for PHYKPL Gene

  • GC05M177636

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. Among its related pathways are Degradation of the extracellular matrix and Metabolism. 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

Chromosome:
5
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

  • Ubiquitination at Lys 33
  • Modification sites at PhosphoSitePlus

Domains & Families for PHYKPL Gene

Suggested Antigen Peptide Sequences for PHYKPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUZ5

UniProtKB/Swiss-Prot:

AT2L2_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
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 TAS --
GO:0030170 pyridoxal phosphate binding IBA --
GO:0042802 identical protein binding IBA --
genes like me logo Genes that share ontologies with PHYKPL: view
genes like me logo Genes that share phenotypes with PHYKPL: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHYKPL

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PHYKPL: view

No data available for Subcellular locations from COMPARTMENTS for PHYKPL Gene

Pathways & Interactions for PHYKPL Gene

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

Gene Ontology (GO) - Biological Process for PHYKPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0008152 metabolic process --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with PHYKPL: view

No data available for SIGNOR curated interactions for PHYKPL Gene

Drugs & Compounds for PHYKPL Gene

(2) Drugs for PHYKPL Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Pyridoxal Phosphate Nutra Target, cofactor 14

(5) Additional Compounds for PHYKPL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-2-amino-6-oxohexanoate
5-phosphonooxy-L-lysine
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PHYKPL: view

Transcripts for PHYKPL Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHYKPL

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHYKPL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.6), Lymph node (7.1), and Oral epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for PHYKPL Gene



genes like me logo Genes that share expression patterns with PHYKPL: view

Protein tissue co-expression partners for PHYKPL Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PHYKPL Gene

Orthologs for PHYKPL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PHYKPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AGXT2L2 35
  • 90.27 (n)
  • 91.76 (a)
PHYKPL 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHYKPL 35
  • 87.04 (n)
  • 87.78 (a)
PHYKPL 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phykpl 35
  • 86.04 (n)
  • 87.08 (a)
Agxt2l2 16
Phykpl 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AGXT2L2 35
  • 98.22 (n)
  • 98.31 (a)
rat
(Rattus norvegicus)
Mammalia LOC100910122 35
  • 86.12 (n)
  • 87.97 (a)
oppossum
(Monodelphis domestica)
Mammalia PHYKPL 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHYKPL 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGXT2L2 35
  • 70.24 (n)
  • 76.54 (a)
PHYKPL 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHYKPL 36
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:123007 35
  • 65.91 (n)
  • 67.81 (a)
PHYKPL 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8745 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01B11.2 36
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 36
  • 22 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.7120 35
rice
(Oryza sativa)
Liliopsida Os.15830 35
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

(3) 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
VAR_048233 -
VAR_069543 Phosphohydroxylysinuria (PHLU)
VAR_069544 Phosphohydroxylysinuria (PHLU)

Variation tolerance for PHYKPL Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHYKPL Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PHYKPL Gene

Disorders for PHYKPL Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHYKPL Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
phosphohydroxylysinuria
  • phlu
- elite association

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.

Relevant External Links for PHYKPL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHYKPL
genes like me logo Genes that share disorders with PHYKPL: view

No data available for Genatlas for PHYKPL Gene

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 67
  2. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67

Products for PHYKPL Gene

Sources for PHYKPL Gene

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