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

    Gene ID: 7511, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (109864766..109923511, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (110748625..110807363, complement)
    RS_2024_09 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 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. Peptiduria presumably caused by aminopeptidase-P deficiency. A new inborn error of metabolism. Blau N, et al. J Inherit Metab Dis, 1988. PMID 3141711
    2. 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
    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. 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
    5. Investigation of the proton relay system operative in human cystosolic aminopeptidase P. Chang HC, et al. PLoS One, 2018. PMID 29351301, Free PMC Article

    See all (57) 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 binding IPI
    Inferred from Physical Interaction
    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_2024_08

    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

    Gene LinkOut

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