Seroatlas · Human Serome Atlas

PHYKPL

5-phosphohydroxy-L-lysine phospho-lyase

Also known as: AGXT2L2, AT2L2_HUMAN, MGC15875

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IUZ5
Gene: PHYKPL
Ensembl: ENSG00000175309
Chromosome: 5
Canonical length: 450 aa
Protein class: Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria
Quaternary structure: Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

450 residues, UniProt reviewed canonical sequence.

>Q8IUZ5|PHYKPL
     1  MAADQRPKAD TLALRQRLIS SSCRLFFPED PVKIVRAQGQ YMYDEQGAEY IDCISNVAHV
    61  GHCHPLVVQA AHEQNQVLNT NSRYLHDNIV DYAQRLSETL PEQLCVFYFL NSGSEANDLA
   121  LRLARHYTGH QDVVVLDHAY HGHLSSLIDI SPYKFRNLDG QKEWVHVAPL PDTYRGPYRE
   181  DHPNPAMAYA NEVKRVVSSA QEKGRKIAAF FAESLPSVGG QIIPPAGYFS QVAEHIRKAG
   241  GVFVADEIQV GFGRVGKHFW AFQLQGKDFV PDIVTMGKSI GNGHPVACVA ATQPVARAFE
   301  ATGVEYFNTF GGSPVSCAVG LAVLNVLEKE QLQDHATSVG SFLMQLLGQQ KIKHPIVGDV
   361  RGVGLFIGVD LIKDEATRTP ATEEAAYLVS RLKENYVLLS TDGPGRNILK FKPPMCFSLD
   421  NARQVVAKLD AILTDMEEKV RSCETLRLQP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHYKPL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 39 nTPM

Expression across tissuesHPA

Tissue

liver: 39 nTPM
rectum: 29 nTPM
small intestine: 23 nTPM
thymus: 23 nTPM
lymph node: 23 nTPM
colon: 22 nTPM

Single-cell type

epicardial cells: 262 nCPM
enterocytes: 221 nCPM
adipocytes: 193 nCPM
colonocytes: 190 nCPM
fibro-adipogenic progenitors: 186 nCPM
adrenal cortex cells: 153 nCPM

Immune cell

plasmacytoid DC: 71 nTPM
myeloid DC: 53 nTPM
non-classical monocyte: 47 nTPM
intermediate monocyte: 47 nTPM
classical monocyte: 42 nTPM
eosinophil: 37 nTPM

Brain region

medulla oblongata: 27 nTPM
white matter: 27 nTPM
thalamus: 23 nTPM
cerebral cortex: 22 nTPM
pons: 21 nTPM
midbrain: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHYKPL.

Disease | AllUniProt

Conditions PHYKPL is implicated in, by any mechanism.

Phosphohydroxylysinuria (PHLU) MIM:615011

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.38
gnomAD pLI: 0
gnomAD missense Z: -0.48
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

mitochondrial matrix

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PHYKPL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PHYKPL as an antibody target. Whether an autoantibody or antibody against PHYKPL could matter depends on whether native PHYKPL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHYKPL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PHYKPL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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