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Aliases for PXYLP1 Gene

Aliases for PXYLP1 Gene

  • 2-Phosphoxylose Phosphatase 1 2 3 5
  • Acid Phosphatase-Like Protein 2 3 4
  • Epididymis Luminal Protein 124 3 4
  • Acid Phosphatase-Like 2 2 3
  • Xylosyl Phosphatase 3 4
  • HEL124 3 4
  • ACPL2 3 4
  • XYLP 3 4
  • EC 3.1.3.2 61
  • EC 3.1.3.- 4

External Ids for PXYLP1 Gene

Previous HGNC Symbols for PXYLP1 Gene

  • ACPL2

Previous GeneCards Identifiers for PXYLP1 Gene

  • GC03P140947

Summaries for PXYLP1 Gene

GeneCards Summary for PXYLP1 Gene

PXYLP1 (2-Phosphoxylose Phosphatase 1) is a Protein Coding gene. GO annotations related to this gene include phosphatase activity and acid phosphatase activity.

UniProtKB/Swiss-Prot for PXYLP1 Gene

  • Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation during completion of linkage region formation is a prerequisite for the initiation and efficient elongation of the repeating disaccharide region of GAG chains.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PXYLP1 Gene

Genomics for PXYLP1 Gene

Regulatory Elements for PXYLP1 Gene

Enhancers for PXYLP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F141192 1.2 Ensembl ENCODE 24.8 -36.4 -36352 0.3 ELF3 WRNIP1 ZNF48 ZNF2 RAD21 RFX5 YY1 ZNF335 GLIS2 ZNF366 PXYLP1 SPSB4 PIR61633 LOC105374133
GH03F141239 1.4 FANTOM5 Ensembl ENCODE 13.1 +13.0 12975 4.2 PKNOX1 CBX3 INSM2 KLF17 FEZF1 ZNF366 SCRT2 FOS EGR2 ZNF263 PXYLP1 ZBTB38 GC03P141249
GH03F141237 1.2 Ensembl ENCODE 15 +9.4 9440 1.2 ATF1 MLX ARID4B DMAP1 FEZF1 YY1 SLC30A9 SP5 PPARG KAT8 PXYLP1 GC03P141249
GH03F141274 1.2 Ensembl ENCODE 14.3 +46.7 46660 1.9 ZSCAN9 RAD21 RARA RFX5 ZNF143 RCOR1 FOS CREM THAP11 SP5 PXYLP1 PIR50413 RPL31P21
GH03F141230 1 ENCODE 13.4 +3.0 3000 2.0 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ZNF143 SP5 PXYLP1 GC03P141249
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PXYLP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PXYLP1 Gene

Chromosome:
3
Start:
141,228,726 bp from pter
End:
141,367,753 bp from pter
Size:
139,028 bases
Orientation:
Plus strand

Genomic View for PXYLP1 Gene

Genes around PXYLP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXYLP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXYLP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXYLP1 Gene

Proteins for PXYLP1 Gene

  • Protein details for PXYLP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE99-PXYP1_HUMAN
    Recommended name:
    2-phosphoxylose phosphatase 1
    Protein Accession:
    Q8TE99
    Secondary Accessions:
    • D3DNF5
    • Q49AJ2
    • W0TR04

    Protein attributes for PXYLP1 Gene

    Size:
    480 amino acids
    Molecular mass:
    55240 Da
    Quaternary structure:
    • Interacts with B3GAT3; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.

    Alternative splice isoforms for PXYLP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PXYLP1 Gene

Selected DME Specific Peptides for PXYLP1 Gene

Q8TE99:
  • EHFKVIKTHQ
  • GELTQTGVVQHL
  • EARFPRFAARL
  • IPKTKRP

Post-translational modifications for PXYLP1 Gene

  • Glycosylation at Asn 305 and Asn 354
  • Modification sites at PhosphoSitePlus

Domains & Families for PXYLP1 Gene

Gene Families for PXYLP1 Gene

Protein Domains for PXYLP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TE99

UniProtKB/Swiss-Prot:

PXYP1_HUMAN :
  • Belongs to the histidine acid phosphatase family.
Family:
  • Belongs to the histidine acid phosphatase family.
genes like me logo Genes that share domains with PXYLP1: view

Function for PXYLP1 Gene

Molecular function for PXYLP1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 5.8. {ECO:0000269 PubMed:24425863};
UniProtKB/Swiss-Prot Function:
Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation during completion of linkage region formation is a prerequisite for the initiation and efficient elongation of the repeating disaccharide region of GAG chains.

Enzyme Numbers (IUBMB) for PXYLP1 Gene

Gene Ontology (GO) - Molecular Function for PXYLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003993 acid phosphatase activity IEA --
GO:0005515 protein binding IPI 24425863
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IDA 24425863
genes like me logo Genes that share ontologies with PXYLP1: view
genes like me logo Genes that share phenotypes with PXYLP1: view

Animal Models for PXYLP1 Gene

MGI Knock Outs for PXYLP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PXYLP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PXYLP1 Gene

Localization for PXYLP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXYLP1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Note=Colocalizes to Golgi apparatus in a B3GAT3-dependent manner. {ECO:0000269 PubMed:24425863}.

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 PXYLP1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PXYLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA,IDA 24425863
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PXYLP1: view

Pathways & Interactions for PXYLP1 Gene

SuperPathways for PXYLP1 Gene

No Data Available

Interacting Proteins for PXYLP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000286353%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q8TE99-PXYP1_HUMAN ENSP00000286353 for PXYLP1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PXYLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process IDA 24425863
GO:0010909 positive regulation of heparan sulfate proteoglycan biosynthetic process IMP 24425863
GO:0016311 dephosphorylation IEA --
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process IMP 24425863
genes like me logo Genes that share ontologies with PXYLP1: view

No data available for Pathways by source and SIGNOR curated interactions for PXYLP1 Gene

Drugs & Compounds for PXYLP1 Gene

(3) Drugs for PXYLP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(5) Additional Compounds for PXYLP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Butanol
  • 1-Butanol
  • 1-Butyl alcohol
  • Butanol
  • Butyl alcohol
  • Butyl hydroxide
71-36-3
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
78-83-1
Propyl alcohol
  • 1-Hydroxypropane
  • 1-Propanol
  • 1-Propyl alcohol
  • Ethylcarbinol
  • Hydroxypropane
71-23-8
genes like me logo Genes that share compounds with PXYLP1: view

Transcripts for PXYLP1 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PXYLP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: - - -

Relevant External Links for PXYLP1 Gene

GeneLoc Exon Structure for
PXYLP1
ECgene alternative splicing isoforms for
PXYLP1

Expression for PXYLP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PXYLP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PXYLP1 Gene

This gene is overexpressed in Oral epithelium (54.5) and Heart (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PXYLP1 Gene



Protein tissue co-expression partners for PXYLP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PXYLP1 Gene:

PXYLP1

mRNA Expression by UniProt/SwissProt for PXYLP1 Gene:

Q8TE99-PXYP1_HUMAN
Tissue specificity: Widely expressed. Strongly expressed in spleen, fetal liver, moderately in placenta, pancreas, kidney, thymus and colon.
genes like me logo Genes that share expression patterns with PXYLP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for PXYLP1 Gene

Orthologs for PXYLP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PXYLP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACPL2 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia ACPL2 34 35
  • 89.61 (n)
mouse
(Mus musculus)
Mammalia Acpl2 34 35
  • 84.74 (n)
Pxylp1 16
rat
(Rattus norvegicus)
Mammalia Acpl2 34
  • 84.09 (n)
cow
(Bos Taurus)
Mammalia ACPL2 34 35
  • 82.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ACPL2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACPL2 34 35
  • 73.09 (n)
lizard
(Anolis carolinensis)
Reptilia ACPL2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acpl2 34
  • 68.48 (n)
zebrafish
(Danio rerio)
Actinopterygii acpl2 34 35
  • 59.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010170 34
  • 45.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15385 34 35
  • 44.39 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK792.1 34 35
  • 40.84 (n)
ZK809.9 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1630 35
  • 28 (a)
OneToOne
Species where no ortholog for PXYLP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for PXYLP1 Gene

ENSEMBL:
Gene Tree for PXYLP1 (if available)
TreeFam:
Gene Tree for PXYLP1 (if available)

Paralogs for PXYLP1 Gene

No data available for Paralogs for PXYLP1 Gene

Variants for PXYLP1 Gene

Sequence variations from dbSNP and Humsavar for PXYLP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1026716 -- 141,265,049(-) ctcct(G/T)ctttc intron-variant
rs1026717 -- 141,264,112(-) CCAAT(C/G)GGGGC intron-variant
rs10546747 -- 141,245,062(+) TTTTT(-/TTTTTT)GAGAC intron-variant
rs10575124 -- 141,266,593(+) GGGGA(-/GCTG)AGGAG intron-variant
rs10595447 -- 141,286,668(+) CAGGC(-/TGTG)TGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PXYLP1 Gene

Variant ID Type Subtype PubMed ID
esv2725989 CNV deletion 23290073
esv2725990 CNV deletion 23290073
esv3336617 CNV duplication 20981092
nsv4039 CNV insertion 18451855
nsv472560 CNV novel sequence insertion 20440878
nsv591892 CNV loss 21841781

Variation tolerance for PXYLP1 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PXYLP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXYLP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PXYLP1 Gene

Disorders for PXYLP1 Gene

Relevant External Links for PXYLP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PXYLP1

No disorders were found for PXYLP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PXYLP1 Gene

Publications for PXYLP1 Gene

  1. Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 24425863) Koike T. … Kitagawa H. (J. Biol. Chem. 2014) 2 3 4 64
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  5. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3 64

Products for PXYLP1 Gene

Sources for PXYLP1 Gene

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