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Aliases for XPNPEP1 Gene

Aliases for XPNPEP1 Gene

  • X-Prolyl Aminopeptidase 1 2 3 5
  • X-Prolyl Aminopeptidase (Aminopeptidase P) 1, Soluble 2 3
  • X-Prolyl Aminopeptidase 1, Soluble 3 4
  • Aminoacylproline Aminopeptidase 3 4
  • Cytosolic Aminopeptidase P 3 4
  • Xaa-Pro Aminopeptidase 1 2 3
  • Soluble Aminopeptidase P 3 4
  • X-Pro Aminopeptidase 1 3 4
  • EC 3.4.11.9 4 61
  • 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 1) 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 CIViC summary , 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 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
GH10G109891 1.2 Ensembl ENCODE dbSUPER 21.7 +29.3 29336 5.0 PKNOX1 ZMYM3 ZIC2 FOSL1 POLR2A SCRT2 PCBP1 PRDM10 SCRT1 L3MBTL2 XPNPEP1 RNU4-5P ADD3
GH10G109897 1.3 Ensembl ENCODE dbSUPER 19.4 +24.2 24159 2.8 BCOR HDAC1 TAL1 JUN ZMYM3 CCNT2 TCF12 ZNF776 FOXK2 GATA2 XPNPEP1 RNU4-5P
GH10G109992 1.5 Ensembl ENCODE dbSUPER 15.3 -72.2 -72229 7.4 HDGF PKNOX1 FEZF1 YY1 TCF12 ZNF121 FOS KLF7 ZNF263 YY2 XPNPEP1 ADD3
GH10G109902 1.1 Ensembl ENCODE dbSUPER 20 +20.3 20290 2.1 GATA3 POLR2A SMARCA4 PRDM10 EBF1 TCF7L2 FOXA1 XPNPEP1 RNU4-5P
GH10G109889 1.1 Ensembl ENCODE dbSUPER 20 +33.4 33361 1.6 SCRT1 CTCF JUN ZSCAN4 FOSL1 JUND ZNF707 SCRT2 FOS XPNPEP1 ADD3 ADD3-AS1 RNU4-5P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000033213 253 1001 ATF1 CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 SP3 PPARG SMARCB1

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

Selected DME Specific Peptides for XPNPEP1 Gene

Q9NQW7:
  • DGTTDVTRT
  • QGRQEALEWL
  • TSELLRQLRQAMRN
  • SGFDGSAG
  • NLVDKIWTDRPERPCKPL
  • NGAIIHY
  • ALDEIAWL
  • FGIRIENV
  • DAHQSEYI

Post-translational modifications for XPNPEP1 Gene

  • Ubiquitination at Lys276
  • 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:0004177 aminopeptidase activity IDA 11106490
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0030145 manganese ion binding 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

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
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 XPNPEP1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for XPNPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome IDA 23376485
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 11106490
GO:0010815 bradykinin catabolic process IDA 18515364
genes like me logo Genes that share ontologies with XPNPEP1: view

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
Manganese Approved Nutra 34
Cobalt Pharma 167
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for XPNPEP1 Gene



Protein tissue co-expression partners for XPNPEP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of XPNPEP1 Gene:

XPNPEP1

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.

Evidence on tissue expression from TISSUES for XPNPEP1 Gene

  • Nervous system(4.6)
  • Blood(4.4)
  • Liver(4.4)
  • Intestine(2.7)
  • Stomach(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with XPNPEP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia XPNPEP1 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia XPNPEP1 34 35
  • 93.14 (n)
cow
(Bos Taurus)
Mammalia XPNPEP1 34 35
  • 92.44 (n)
oppossum
(Monodelphis domestica)
Mammalia XPNPEP1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpnpep1 34 16 35
  • 88.34 (n)
rat
(Rattus norvegicus)
Mammalia Xpnpep1 34
  • 87.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia XPNPEP1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPNPEP1 34 35
  • 76.14 (n)
lizard
(Anolis carolinensis)
Reptilia XPNPEP1 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii xpnpep1 34 35
  • 69.47 (n)
zgc56366 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9323 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001037 34
  • 53.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta ApepP 36 34 35
  • 52.75 (n)
CG6225 36
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea app-1 34 35
  • 50 (n)
W03G9.4 36
  • 41 (a)
Y45G5AM.2 36
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL032C 34
  • 49.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRA1 34 35
  • 49.72 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18128g 34
  • 49.24 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons APP1 34
  • 51.08 (n)
soybean
(Glycine max)
eudicotyledons Gma.16537 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3027 34
rice
(Oryza sativa)
Liliopsida Os11g0540100 34
  • 51.97 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.3717 34
wheat
(Triticum aestivum)
Liliopsida Ta.23391 34
corn
(Zea mays)
Liliopsida Zm.8053 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4225 35
  • 54 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00112 34
  • 53.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22G7.01c 34
  • 49.35 (n)
Species where no ortholog for XPNPEP1 was found in the sources mined by GeneCards:
  • 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
rs1000025674 -- 109,868,326(+) GAATA(C/G)TACAG intron-variant
rs1000046369 -- 109,905,093(+) AAAGA(A/C)ATCCT intron-variant
rs1000063193 -- 109,868,021(+) TAAGA(C/T)CCATA intron-variant
rs1000121621 -- 109,917,762(+) AGAAT(G/T)GACTT intron-variant
rs1000125487 -- 109,874,270(+) ACACT(A/G)TCACT 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

Human Gene Mutation Database (HGMD)
XPNPEP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 4 22 64
  2. 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 22 64
  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 4 22 64
  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 4 22 64
  5. 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 46 64

Products for XPNPEP1 Gene

Sources for XPNPEP1 Gene

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