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Aliases for XPNPEP1 Gene

Aliases for XPNPEP1 Gene

  • X-Prolyl Aminopeptidase (Aminopeptidase P) 1, Soluble 2 3 5
  • X-Prolyl Aminopeptidase 1, Soluble 3 4
  • Aminoacylproline Aminopeptidase 3 4
  • Cytosolic Aminopeptidase P 3 4
  • Soluble Aminopeptidase P 3 4
  • X-Pro Aminopeptidase 1 3 4
  • EC 3.4.11.9 4 63
  • XPNPEPL1 3 4
  • XPNPEPL 3 4
  • SAMP 3 4
  • X-Prolyl Aminopeptidase (Aminopeptidase P)-Like 2
  • Aminopeptidase P, Cytosolic 3
  • XPNPEP 3
  • APP1 3

External Ids for XPNPEP1 Gene

Previous HGNC Symbols for XPNPEP1 Gene

  • XPNPEP
  • XPNPEPL1
  • XPNPEPL

Previous GeneCards Identifiers for XPNPEP1 Gene

  • GC10M110517
  • GC10M110858
  • GC10M111755
  • GC10M111289
  • GC10M111614
  • GC10M105255

Summaries for XPNPEP1 Gene

Entrez Gene Summary for XPNPEP1 Gene

  • This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]

GeneCards Summary for XPNPEP1 Gene

XPNPEP1 (X-Prolyl Aminopeptidase (Aminopeptidase P) 1, Soluble) is a Protein Coding gene. Diseases associated with XPNPEP1 include mature cataract and biliary atresia. GO annotations related to this gene include protein homodimerization activity and manganese ion binding. An important paralog of this gene is XPNPEP2.

UniProtKB/Swiss-Prot for XPNPEP1 Gene

  • Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro.

Gene Wiki entry for XPNPEP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPNPEP1 Gene

Genomics for XPNPEP1 Gene

Regulatory Elements for XPNPEP1 Gene

Enhancers for XPNPEP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XPNPEP1 on UCSC Golden Path with GeneCards custom track

Promoters for XPNPEP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XPNPEP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for XPNPEP1 Gene

Chromosome:
10
Start:
109,864,766 bp from pter
End:
109,923,553 bp from pter
Size:
58,788 bases
Orientation:
Minus strand

Genomic View for XPNPEP1 Gene

Genes around XPNPEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XPNPEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XPNPEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPNPEP1 Gene

Proteins for XPNPEP1 Gene

  • Protein details for XPNPEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQW7-XPP1_HUMAN
    Recommended name:
    Xaa-Pro aminopeptidase 1
    Protein Accession:
    Q9NQW7
    Secondary Accessions:
    • A8K071
    • G5E9Y2
    • G8JLB2
    • O15250
    • Q53EX6
    • Q8N3Q0
    • Q96D23

    Protein attributes for XPNPEP1 Gene

    Size:
    623 amino acids
    Molecular mass:
    69918 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAD38640.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for XPNPEP1 Gene

    Alternative splice isoforms for XPNPEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XPNPEP1 Gene

Proteomics data for XPNPEP1 Gene at MOPED

Post-translational modifications for XPNPEP1 Gene

  • Ubiquitination at Lys 276
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for XPNPEP1 (Aminopeptidase P1/XPNPEP1)

Domains & Families for XPNPEP1 Gene

Gene Families for XPNPEP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQW7

UniProtKB/Swiss-Prot:

XPP1_HUMAN :
  • Belongs to the peptidase M24B family.
Family:
  • Belongs to the peptidase M24B family.
genes like me logo Genes that share domains with XPNPEP1: view

Function for XPNPEP1 Gene

Molecular function for XPNPEP1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=100.6 uM for bradykinin {ECO:0000269 PubMed:11106490, ECO:0000269 PubMed:18515364}; KM=308 uM for the tripeptide Arg-Pro-Pro {ECO:0000269 PubMed:11106490, ECO:0000269 PubMed:18515364}; pH dependence: Optimum pH is 8.2. {ECO:0000269 PubMed:11106490, ECO:0000269 PubMed:18515364};
UniProtKB/Swiss-Prot CatalyticActivity:
Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by apstatin and the metal ion chelators EDTA and 1,10-phenanthroline. Partially inhibited by dithiothreitol. Not inhibited by enalaprilat or amastatin.
UniProtKB/Swiss-Prot Function:
Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro.

Enzyme Numbers (IUBMB) for XPNPEP1 Gene

Gene Ontology (GO) - Molecular Function for XPNPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030145 manganese ion binding IDA 18515364
GO:0042803 protein homodimerization activity IPI 18515364
GO:0070006 metalloaminopeptidase activity IDA 18515364
genes like me logo Genes that share ontologies with XPNPEP1: view
genes like me logo Genes that share phenotypes with XPNPEP1: view

Animal Models for XPNPEP1 Gene

MGI Knock Outs for XPNPEP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for XPNPEP1

miRNA for XPNPEP1 Gene

miRTarBase miRNAs that target XPNPEP1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XPNPEP1 Gene

Localization for XPNPEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPNPEP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XPNPEP1 Gene COMPARTMENTS Subcellular localization image for XPNPEP1 gene
Compartment Confidence
extracellular 5
cytosol 4
mitochondrion 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for XPNPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with XPNPEP1: view

Pathways & Interactions for XPNPEP1 Gene

SuperPathways for XPNPEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for XPNPEP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for XPNPEP1 Gene

Drugs & Compounds for XPNPEP1 Gene

(2) Drugs for XPNPEP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalt Pharma 159
Manganese Pharma 32
genes like me logo Genes that share compounds with XPNPEP1: view

Transcripts for XPNPEP1 Gene

Unigene Clusters for XPNPEP1 Gene

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XPNPEP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: - -
SP6:
SP7: - -
SP8: - - - - - - - - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 17a · 17b · 17c ^ 18a · 18b · 18c · 18d ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5: - - -
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13: -

Relevant External Links for XPNPEP1 Gene

GeneLoc Exon Structure for
XPNPEP1
ECgene alternative splicing isoforms for
XPNPEP1

Expression for XPNPEP1 Gene

mRNA expression in normal human tissues for XPNPEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for XPNPEP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XPNPEP1 Gene



SOURCE GeneReport for Unigene cluster for XPNPEP1 Gene Hs.390623

mRNA Expression by UniProt/SwissProt for XPNPEP1 Gene

Q9NQW7-XPP1_HUMAN
Tissue specificity: Expressed in all tissues tested, including pancreas, heart, muscle, kidney, liver, lung and brain. Highest levels in pancreas.
genes like me logo Genes that share expression patterns with XPNPEP1: view

Protein tissue co-expression partners for XPNPEP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for XPNPEP1 Gene

Orthologs for XPNPEP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XPNPEP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia XPNPEP1 35
  • 92.44 (n)
  • 97.59 (a)
XPNPEP1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPNPEP1 35
  • 93.14 (n)
  • 97.6 (a)
XPNPEP1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpnpep1 35
  • 88.34 (n)
  • 95.2 (a)
Xpnpep1 16
Xpnpep1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XPNPEP1 35
  • 99.55 (n)
  • 99.85 (a)
XPNPEP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xpnpep1 35
  • 87.8 (n)
  • 95.67 (a)
oppossum
(Monodelphis domestica)
Mammalia XPNPEP1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XPNPEP1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPNPEP1 35
  • 76.14 (n)
  • 81.1 (a)
XPNPEP1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPNPEP1 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii xpnpep1 35
  • 69.47 (n)
  • 73.99 (a)
zgc56366 35
xpnpep1 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9323 35
fruit fly
(Drosophila melanogaster)
Insecta ApepP 37
  • 47 (a)
CG6225 37
  • 33 (a)
ApepP 35
  • 52.75 (n)
  • 49.67 (a)
ApepP 36
  • 48 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001037 35
  • 53.91 (n)
  • 51.07 (a)
worm
(Caenorhabditis elegans)
Secernentea W03G9.4 37
  • 41 (a)
Y45G5AM.2 37
  • 35 (a)
app-1 35
  • 50 (n)
  • 43.96 (a)
app-1 36
  • 41 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL032C 35
  • 49.75 (n)
  • 42.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18128g 35
  • 49.24 (n)
  • 44.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRA1 35
  • 49.72 (n)
  • 44.24 (a)
FRA1 36
  • 33 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons APP1 35
  • 51.08 (n)
  • 45.27 (a)
soybean
(Glycine max)
eudicotyledons Gma.16537 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3027 35
barley
(Hordeum vulgare)
Liliopsida Hv.3717 35
rice
(Oryza sativa)
Liliopsida Os11g0540100 35
  • 51.97 (n)
  • 44.59 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.23391 35
corn
(Zea mays)
Liliopsida Zm.8053 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00112 35
  • 53.2 (n)
  • 49.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22G7.01c 35
  • 49.35 (n)
  • 45.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4225 36
  • 54 (a)
OneToOne
Species with no ortholog for XPNPEP1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for XPNPEP1 Gene

ENSEMBL:
Gene Tree for XPNPEP1 (if available)
TreeFam:
Gene Tree for XPNPEP1 (if available)

Paralogs for XPNPEP1 Gene

Paralogs for XPNPEP1 Gene

(2) SIMAP similar genes for XPNPEP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with XPNPEP1: view

Variants for XPNPEP1 Gene

Sequence variations from dbSNP and Humsavar for XPNPEP1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1574991 -- 109,896,046(+) ccttt(C/G)tgctc intron-variant
rs7834 -- 109,865,011(-) AAACA(C/T)TCAGT nc-transcript-variant, utr-variant-3-prime
rs1815249 -- 109,896,032(+) agaca(C/T)accca intron-variant
rs472049 -- 109,887,980(+) CGAGG(C/T)TGGAG intron-variant
rs472337 -- 109,878,746(+) atcag(C/G)tgggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XPNPEP1 Gene

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855

Variation tolerance for XPNPEP1 Gene

Residual Variation Intolerance Score: 7.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XPNPEP1 Gene

HapMap Linkage Disequilibrium report
XPNPEP1
Human Gene Mutation Database (HGMD)
XPNPEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPNPEP1 Gene

Disorders for XPNPEP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for XPNPEP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mature cataract
  • total or mature cataract
biliary atresia
  • atresia of bile duct
ileitis
  • crohn's ileitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for XPNPEP1

Genetic Association Database (GAD)
XPNPEP1
Human Genome Epidemiology (HuGE) Navigator
XPNPEP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XPNPEP1
genes like me logo Genes that share disorders with XPNPEP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XPNPEP1 Gene

Publications for XPNPEP1 Gene

  1. Cloning, chromosomal sublocalization of the human soluble aminopeptidase P gene (XPNPEP1) to 10q25.3 and conservation of the putative proton shuttle and metal ligand binding sites with XPNPEP2. (PMID: 10871044) Sprinkle T.J. … Ryan J.W. (Arch. Biochem. Biophys. 2000) 2 3 4 23 67
  2. Structure of human cytosolic X-prolyl aminopeptidase: a double Mn(II)-dependent dimeric enzyme with a novel three-domain subunit. (PMID: 18515364) Li X. … Rao Z. (J. Biol. Chem. 2008) 2 3 23
  3. Cloning, expression, and characterization of human cytosolic aminopeptidase P: a single manganese(II)-dependent enzyme. (PMID: 11106490) Cottrell G.S. … Turner A.J. (Biochemistry 2000) 3 23
  4. Isolation and sequence analysis of a human cDNA clone (XPNPEPL) homologous to X-prolyl aminopeptidase (aminopeptidase P). (PMID: 9465902) Vanhoof G. … Scharpe S. (Cytogenet. Cell Genet. 1997) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for XPNPEP1 Gene

Sources for XPNPEP1 Gene

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