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PXYLP1 2-phosphoxylose phosphatase 1 [ Homo sapiens (human) ]

Gene ID: 92370, updated on 22-Sep-2022

Summary

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Official Symbol
PXYLP1provided by HGNC
Official Full Name
2-phosphoxylose phosphatase 1provided by HGNC
Primary source
HGNC:HGNC:26303
See related
Ensembl:ENSG00000155893 MIM:619732; AllianceGenome:HGNC:26303
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XYLP; ACPL2; HEL124
Summary
Enables phosphatase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process; glycosaminoglycan biosynthetic process; and positive regulation of heparan sulfate proteoglycan biosynthetic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 6.1), placenta (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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See PXYLP1 in Genome Data Viewer
Location:
3q23
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (141231825..141294924)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (143979383..144042517)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (140950667..141013766)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 36 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 4 Neighboring gene ribosomal protein L31 pseudogene 21 Neighboring gene uncharacterized LOC124909441 Neighboring gene PHF5A pseudogene 7 Neighboring gene zinc finger and BTB domain containing 38 Neighboring gene uncharacterized LOC124906291

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans. Koike T, et al. J Biol Chem, 2014 Mar 7. PMID 24425863, Free PMC Article
  2. Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation. Mason B, et al. Cell Mol Life Sci, 2020 Jul. PMID 31560077, Free PMC Article
  3. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Need AC, et al. Hum Mol Genet, 2009 Dec 1. PMID 19734545, Free PMC Article
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

See all (12) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this study describes the cloning of a human cDNA encoding a novel protein designated 2-phosphoxylose phosphatase capable of dephosphorylating this Xyl residue.
    Title: Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23751

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chondroitin sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in chondroitin sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in glycosaminoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
2-phosphoxylose phosphatase 1
Names
acid phosphatase-like 2
acid phosphatase-like protein 2
epididymis luminal protein 124
xylosyl phosphatase
NP_001032249.1
NP_001269657.1
NP_689495.1
XP_005247960.1
XP_024309598.1
XP_047305165.1
XP_047305166.1
XP_047305167.1
XP_047305168.1
XP_047305169.1
XP_047305170.1
XP_047305171.1
XP_047305172.1
XP_047305173.1
XP_047305174.1
XP_047305175.1
XP_047305176.1
XP_047305177.1
XP_047305178.1
XP_047305179.1
XP_047305180.1
XP_047305181.1
XP_047305182.1
XP_047305183.1
XP_047305184.1
XP_047305185.1
XP_047305186.1
XP_047305187.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037172.3 → NP_001032249.1  2-phosphoxylose phosphatase 1 isoform 1

    See identical proteins and their annotated locations for NP_001032249.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC117383, AK074331, AL137529, BX647621, CX762355, DC409719
    Consensus CDS
    CCDS3116.1
    UniProtKB/Swiss-Prot
    Q8TE99, W0TR04
    UniProtKB/TrEMBL
    Q9NT50
    Related
    ENSP00000286353.4, ENST00000286353.9
    Conserved Domains (1) summary
    cl11399
    Location:87 → 424
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  2. NM_001282728.2 → NP_001269657.1  2-phosphoxylose phosphatase 1 isoform 2

    See identical proteins and their annotated locations for NP_001269657.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC117383, AK074331, AK297790, AL137529, BX647621, CX762355
    Consensus CDS
    CCDS63797.1
    UniProtKB/Swiss-Prot
    Q8TE99
    UniProtKB/TrEMBL
    B7Z4T2, Q9NT50
    Related
    ENSP00000422558.1, ENST00000502783.5
    Conserved Domains (1) summary
    cl11399
    Location:49 → 386
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  3. NM_152282.5 → NP_689495.1  2-phosphoxylose phosphatase 1 isoform 1

    See identical proteins and their annotated locations for NP_689495.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC117383, AK074331, AK316121, AL137529, AY358460, BX647621, CX762355
    Consensus CDS
    CCDS3116.1
    UniProtKB/Swiss-Prot
    Q8TE99, W0TR04
    UniProtKB/TrEMBL
    B7Z3R9, Q9NT50
    Related
    ENSP00000376733.2, ENST00000393010.6
    Conserved Domains (1) summary
    cl11399
    Location:87 → 424
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    141231825..141294924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449228.1 → XP_047305184.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  2. XM_047449230.1 → XP_047305186.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  3. XM_047449223.1 → XP_047305179.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  4. XM_047449229.1 → XP_047305185.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  5. XM_047449209.1 → XP_047305165.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  6. XM_047449214.1 → XP_047305170.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  7. XM_047449220.1 → XP_047305176.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  8. XM_047449219.1 → XP_047305175.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  9. XM_047449210.1 → XP_047305166.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  10. XM_047449215.1 → XP_047305171.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  11. XM_047449224.1 → XP_047305180.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  12. XM_047449216.1 → XP_047305172.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  13. XM_047449212.1 → XP_047305168.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  14. XM_047449225.1 → XP_047305181.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  15. XM_047449211.1 → XP_047305167.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  16. XM_047449222.1 → XP_047305178.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  17. XM_047449221.1 → XP_047305177.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  18. XM_047449226.1 → XP_047305182.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  19. XM_047449218.1 → XP_047305174.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  20. XM_047449227.1 → XP_047305183.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  21. XM_047449213.1 → XP_047305169.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  22. XM_047449217.1 → XP_047305173.1  2-phosphoxylose phosphatase 1 isoform X1

    UniProtKB/Swiss-Prot
    W0TR04

  23. XM_024453830.2 → XP_024309598.1  2-phosphoxylose phosphatase 1 isoform X2

    UniProtKB/TrEMBL
    E9PDB7
    Related
    ENSP00000422901.1, ENST00000508812.1
    Conserved Domains (1) summary
    cl11399
    Location:78 → 415
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  24. XM_047449231.1 → XP_047305187.1  2-phosphoxylose phosphatase 1 isoform X4

    UniProtKB/TrEMBL
    B7Z4T2

  25. XM_005247903.5 → XP_005247960.1  2-phosphoxylose phosphatase 1 isoform X3

    See identical proteins and their annotated locations for XP_005247960.1

    UniProtKB/TrEMBL
    B7Z3R9
    Related
    ENSP00000426877.1, ENST00000504264.5
    Conserved Domains (1) summary
    cl11399
    Location:70 → 407
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    143979383..144042517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TE99.1 GenPept UniProtKB/Swiss-Prot:Q8TE99

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