Aliases for PCYOX1L Gene

Aliases for PCYOX1L Gene

  • Prenylcysteine Oxidase 1 Like 2 3 5
  • Prenylcysteine Oxidase-Like 3 4
  • EC 1.8.3.- 4

External Ids for PCYOX1L Gene

Previous GeneCards Identifiers for PCYOX1L Gene

  • GC05P148718
  • GC05P143883

Summaries for PCYOX1L Gene

GeneCards Summary for PCYOX1L Gene

PCYOX1L (Prenylcysteine Oxidase 1 Like) is a Protein Coding gene. Diseases associated with PCYOX1L include Keratoconus 1 and Freemartinism. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include prenylcysteine oxidase activity and oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor. An important paralog of this gene is PCYOX1.

UniProtKB/Swiss-Prot Summary for PCYOX1L Gene

Additional gene information for PCYOX1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCYOX1L Gene

Genomics for PCYOX1L Gene

GeneHancer (GH) Regulatory Elements for PCYOX1L Gene

Promoters and enhancers for PCYOX1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCYOX1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCYOX1L

Top Transcription factor binding sites by QIAGEN in the PCYOX1L gene promoter:
  • CBF(2)
  • GATA-1
  • GATA-2
  • GATA-3
  • HNF-3beta
  • NF-Y
  • Sox5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for PCYOX1L Gene

Genomic Locations for PCYOX1L Gene
chr5:149,358,007-149,369,658
(GRCh38/hg38)
Size:
11,652 bases
Orientation:
Plus strand
chr5:148,737,570-148,749,221
(GRCh37/hg19)
Size:
11,652 bases
Orientation:
Plus strand

Genomic View for PCYOX1L Gene

Genes around PCYOX1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCYOX1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCYOX1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCYOX1L Gene

Proteins for PCYOX1L Gene

  • Protein details for PCYOX1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBM8-PCYXL_HUMAN
    Recommended name:
    Prenylcysteine oxidase-like
    Protein Accession:
    Q8NBM8
    Secondary Accessions:
    • Q7Z4S2
    • Q8NCY5
    • Q8NF69
    • Q9BTE8
    • Q9BWS3

    Protein attributes for PCYOX1L Gene

    Size:
    494 amino acids
    Molecular mass:
    54646 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=AAH00014.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAP97684.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAC03391.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for PCYOX1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCYOX1L Gene

Post-translational modifications for PCYOX1L Gene

  • Glycosylation at Asn342
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PCYOX1L Gene

Domains & Families for PCYOX1L Gene

Gene Families for PCYOX1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PCYOX1L Gene

Suggested Antigen Peptide Sequences for PCYOX1L Gene

GenScript: Design optimal peptide antigens:
  • Prenylcysteine oxidase-like (PCYXL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBM8

UniProtKB/Swiss-Prot:

PCYXL_HUMAN :
  • Belongs to the prenylcysteine oxidase family.
Family:
  • Belongs to the prenylcysteine oxidase family.
genes like me logo Genes that share domains with PCYOX1L: view

Function for PCYOX1L Gene

Molecular function for PCYOX1L Gene

UniProtKB/Swiss-Prot Function:
Probable oxidoreductase.

Enzyme Numbers (IUBMB) for PCYOX1L Gene

Phenotypes From GWAS Catalog for PCYOX1L Gene

Gene Ontology (GO) - Molecular Function for PCYOX1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001735 prenylcysteine oxidase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016670 oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor IEA --
genes like me logo Genes that share ontologies with PCYOX1L: view
genes like me logo Genes that share phenotypes with PCYOX1L: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCYOX1L Gene

Localization for PCYOX1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCYOX1L Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCYOX1L gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 2
lysosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCYOX1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0016020 membrane HDA 19946888
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with PCYOX1L: view

Pathways & Interactions for PCYOX1L Gene

genes like me logo Genes that share pathways with PCYOX1L: view

Gene Ontology (GO) - Biological Process for PCYOX1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0030327 prenylated protein catabolic process IBA 21873635
GO:0030328 prenylcysteine catabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PCYOX1L: view

No data available for SIGNOR curated interactions for PCYOX1L Gene

Drugs & Compounds for PCYOX1L Gene

(1) Drugs for PCYOX1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with PCYOX1L: view

Transcripts for PCYOX1L Gene

mRNA/cDNA for PCYOX1L Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCYOX1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6: - -

Relevant External Links for PCYOX1L Gene

GeneLoc Exon Structure for
PCYOX1L

Expression for PCYOX1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCYOX1L Gene

Protein differential expression in normal tissues from HIPED for PCYOX1L Gene

This gene is overexpressed in Platelet (13.9) and Retina (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCYOX1L Gene



Protein tissue co-expression partners for PCYOX1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCYOX1L

SOURCE GeneReport for Unigene cluster for PCYOX1L Gene:

Hs.644397

Evidence on tissue expression from TISSUES for PCYOX1L Gene

  • Lung(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Kidney(4.1)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with PCYOX1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCYOX1L Gene

Orthologs for PCYOX1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCYOX1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCYOX1L 31 30
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCYOX1L 31 30
  • 89.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcyox1l 30
  • 88.94 (n)
dog
(Canis familiaris)
Mammalia PCYOX1L 31 30
  • 88.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pcyox1l 17 31 30
  • 88.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCYOX1L 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCYOX1L 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCYOX1L 31 30
  • 77.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCYOX1L 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyox1l 30
  • 67.03 (n)
zebrafish
(Danio rerio)
Actinopterygii PCYOX1L (1 of 2) 31
  • 60 (a)
OneToMany
PCYOX1L (2 of 2) 31
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for PCYOX1L was found in the sources mined by GeneCards:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCYOX1L Gene

ENSEMBL:
Gene Tree for PCYOX1L (if available)
TreeFam:
Gene Tree for PCYOX1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCYOX1L: view image

Paralogs for PCYOX1L Gene

Paralogs for PCYOX1L Gene

(1) SIMAP similar genes for PCYOX1L Gene using alignment to 3 proteins:

  • PCYXL_HUMAN
  • D6R9J0_HUMAN
  • E7EVZ5_HUMAN
genes like me logo Genes that share paralogs with PCYOX1L: view

Variants for PCYOX1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCYOX1L Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
755793 Likely Benign: not provided 149,374,579(+) A/C SYNONYMOUS_VARIANT
789182 Benign: not provided 149,374,486(+) C/T SYNONYMOUS_VARIANT
rs201298520 Uncertain Significance: Keratoconus 1 149,374,385(+) C/T MISSENSE_VARIANT
rs2291814 - p.Ala5Pro
rs35552800 - p.Ala316Thr

Additional dbSNP identifiers (rs#s) for PCYOX1L Gene

Structural Variations from Database of Genomic Variants (DGV) for PCYOX1L Gene

Variant ID Type Subtype PubMed ID
nsv599948 CNV loss 21841781

Variation tolerance for PCYOX1L Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCYOX1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCYOX1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCYOX1L Gene

Disorders for PCYOX1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for PCYOX1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keratoconus 1
  • ktcn1
freemartinism
persistent mullerian duct syndrome
  • pmds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCYOX1L

genes like me logo Genes that share disorders with PCYOX1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCYOX1L Gene

Publications for PCYOX1L Gene

  1. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 54
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54

Products for PCYOX1L Gene

Sources for PCYOX1L Gene