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XPNPEP1 X-prolyl aminopeptidase 1 [ Homo sapiens (human) ]

Gene ID: 7511, updated on 7-Apr-2024

Summary

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Official Symbol
XPNPEP1provided by HGNC
Official Full Name
X-prolyl aminopeptidase 1provided by HGNC
Primary source
HGNC:HGNC:12822
See related
Ensembl:ENSG00000108039 MIM:602443; AllianceGenome:HGNC:12822
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1
Summary
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]
Expression
Ubiquitous expression in small intestine (RPKM 32.0), duodenum (RPKM 25.3) and 25 other tissues See more
Orthologs
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Genomic context

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See XPNPEP1 in Genome Data Viewer
Location:
10q25.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (109864766..109923511, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (110748625..110807363, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111624524..111683269, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111422680-111423180 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:111435820-111437019 Neighboring gene X-linked inhibitor of apoptosis pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111560913-111561413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111585419-111585920 Neighboring gene ribosomal protein L21 pseudogene 91 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3996 Neighboring gene RNA, U4 small nuclear 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3997 Neighboring gene NANOG hESC enhancer GRCh37_chr10:111672994-111673649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3998 Neighboring gene ADD3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:111747103-111747604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111766387-111766942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111766943-111767496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111774137-111774942 Neighboring gene Sharpr-MPRA regulatory region 15659 Neighboring gene adducin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4004 Neighboring gene Sharpr-MPRA regulatory region 905 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12

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. Investigation of the proton relay system operative in human cystosolic aminopeptidase P. Chang HC, et al. PLoS One, 2018. PMID 29351301, Free PMC Article
  2. The bradykinin-degrading aminopeptidase P is increased in women taking the oral contraceptive pill. Cilia La Corte AL, et al. J Renin Angiotensin Aldosterone Syst, 2008 Dec. PMID 19126663
  3. 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. Sprinkle TJ, et al. Arch Biochem Biophys, 2000 Jun 1. PMID 10871044
  4. Isolation and sequence analysis of a human cDNA clone (XPNPEPL) homologous to X-prolyl aminopeptidase (aminopeptidase P). Vanhoof G, et al. Cytogenet Cell Genet, 1997. PMID 9465902
  5. Peptiduria presumably caused by aminopeptidase-P deficiency. A new inborn error of metabolism. Blau N, et al. J Inherit Metab Dis, 1988. PMID 3141711

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Alanine replacement of Arg535 destabilizes the AMPP dimer and guanidine hydrochloride restores the native monomer-dimer equilibrium. It is proposed that Arg535 plays an important role in AMMP catalysis and in stabilization of the catalytically active dimeric state
    Title: Investigation of the proton relay system operative in human cystosolic aminopeptidase P.
  2. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Identification of genetic factors associated with susceptibility to angiotensin-converting enzyme inhibitors-induced cough.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  6. These data suggest that progesterone-induced increases in AP-P may contribute to the development of oral contraceptive pill-induced hypertension in susceptible Women.
    Title: The bradykinin-degrading aminopeptidase P is increased in women taking the oral contraceptive pill.
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
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables manganese ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metalloaminopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in bradykinin catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of programmed cell death IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
xaa-Pro aminopeptidase 1
Names
X-Pro aminopeptidase 1
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
X-prolyl aminopeptidase 1, soluble
aminoacylproline aminopeptidase
aminopeptidase P, cytosolic
cytosolic aminopeptidase P
soluble aminopeptidase P
NP_001161076.1
NP_001311057.1
NP_001311060.1
NP_001311061.1
NP_001311062.1
NP_001311063.1
NP_001311064.1
NP_001311065.1
NP_065116.3
XP_011538436.1
XP_016872102.1
XP_047281669.1
XP_047281670.1
XP_054222659.1
XP_054222660.1
XP_054222661.1
XP_054222662.1
XP_054222663.1

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_001167604.2 → NP_001161076.1  xaa-Pro aminopeptidase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AL833411, BC005126, DA484161
    Consensus CDS
    CCDS53576.1
    UniProtKB/TrEMBL
    B3KSI7
    Related
    ENSP00000324011.8, ENST00000322238.12
    Conserved Domains (5) summary
    COG0006
    Location:239 → 585
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372 → 570
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:576 → 638
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207 → 369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53 → 197
    Creatinase_N; Creatinase/Prolidase N-terminal domain

  2. NM_001324128.2 → NP_001311057.1  xaa-Pro aminopeptidase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL354951
    Consensus CDS
    CCDS81498.1
    UniProtKB/TrEMBL
    B3KSI7, Q5T6H7
    Related
    ENSP00000358697.1, ENST00000369683.5
    Conserved Domains (3) summary
    cd01085
    Location:258 → 480
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:486 → 548
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:86 → 255
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain

  3. NM_001324131.2 → NP_001311060.1  xaa-Pro aminopeptidase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/TrEMBL
    B3KSI7

  4. NM_001324132.2 → NP_001311061.1  xaa-Pro aminopeptidase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/Swiss-Prot
    A8K071, G5E9Y2, G8JLB2, O15250, Q53EX6, Q8N3Q0, Q96D23, Q9NQW7
    UniProtKB/TrEMBL
    B3KSI7
    Conserved Domains (4) summary
    cd01085
    Location:329 → 551
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:557 → 619
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:157 → 326
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:10 → 154
    Creatinase_N; Creatinase/Prolidase N-terminal domain

  5. NM_001324133.2 → NP_001311062.1  xaa-Pro aminopeptidase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL354951
    Conserved Domains (5) summary
    COG0006
    Location:239 → 609
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372 → 594
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:600 → 627
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207 → 369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53 → 197
    Creatinase_N; Creatinase/Prolidase N-terminal domain

  6. NM_001324134.2 → NP_001311063.1  xaa-Pro aminopeptidase 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/TrEMBL
    B3KSI7
    Conserved Domains (3) summary
    cd01085
    Location:198 → 420
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:426 → 488
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:26 → 195
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain

  7. NM_001324135.2 → NP_001311064.1  xaa-Pro aminopeptidase 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/TrEMBL
    B3KSI7

  8. NM_001324136.1 → NP_001311065.1  xaa-Pro aminopeptidase 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/TrEMBL
    B3KSI7

  9. NM_020383.4 → NP_065116.3  xaa-Pro aminopeptidase 1 isoform 1

    See identical proteins and their annotated locations for NP_065116.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC007579, DA484161
    Consensus CDS
    CCDS7560.2
    UniProtKB/TrEMBL
    B3KSI7
    Related
    ENSP00000421566.1, ENST00000502935.6
    Conserved Domains (5) summary
    COG0006
    Location:239 → 609
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372 → 594
    APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
    pfam16188
    Location:600 → 662
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207 → 369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53 → 197
    Creatinase_N; Creatinase/Prolidase N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    109864766..109923511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016613.3 → XP_016872102.1  xaa-Pro aminopeptidase 1 isoform X1

    UniProtKB/TrEMBL
    B3KSI7

  2. XM_047425713.1 → XP_047281669.1  xaa-Pro aminopeptidase 1 isoform X3

  3. XM_011540134.3 → XP_011538436.1  xaa-Pro aminopeptidase 1 isoform X2

    UniProtKB/TrEMBL
    B3KSI7
    Conserved Domains (5) summary
    COG0006
    Location:239 → 551
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    pfam16188
    Location:542 → 604
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207 → 369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl00279
    Location:372 → 536
    APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...
    cl23800
    Location:53 → 197
    Creatinase_N; Creatinase/Prolidase N-terminal domain

  4. XM_047425714.1 → XP_047281670.1  xaa-Pro aminopeptidase 1 isoform X4

    UniProtKB/TrEMBL
    Q5T6H7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    110748625..110807363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366685.1 → XP_054222660.1  xaa-Pro aminopeptidase 1 isoform X1

  2. XM_054366687.1 → XP_054222662.1  xaa-Pro aminopeptidase 1 isoform X3

  3. XM_054366686.1 → XP_054222661.1  xaa-Pro aminopeptidase 1 isoform X2

  4. XM_054366684.1 → XP_054222659.1  xaa-Pro aminopeptidase 1 isoform X5

    UniProtKB/Swiss-Prot
    A8K071, G5E9Y2, G8JLB2, O15250, Q53EX6, Q8N3Q0, Q96D23, Q9NQW7

  5. XM_054366688.1 → XP_054222663.1  xaa-Pro aminopeptidase 1 isoform X4

    UniProtKB/TrEMBL
    Q5T6H7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQW7.3 GenPept UniProtKB/Swiss-Prot:Q9NQW7

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