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

Gene ID: 7511, updated on 10-Oct-2020

Summary

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
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

Genomic context

See XPNPEP1 in Genome Data Viewer
Location:
10q25.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (109864766..109923511, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111624524..111683311, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene X-linked inhibitor of apoptosis pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 91 Neighboring gene RNA, U4 small nuclear 5, pseudogene Neighboring gene ADD3 antisense RNA 1 Neighboring gene adducin 3 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
metalloaminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bradykinin catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 

General protein information

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_016872103.1
XP_016872104.1
XP_024303924.1

NCBI Reference Sequences (RefSeq)

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_001167604.2NP_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/Swiss-Prot
    Q9NQW7
    Related
    ENSP00000324011.8, ENST00000322238.12
    Conserved Domains (5) summary
    COG0006
    Location:239585
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372570
    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:576638
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53197
    Creatinase_N; Creatinase/Prolidase N-terminal domain
  2. NM_001324128.2NP_001311057.1  xaa-Pro aminopeptidase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL354951
    Consensus CDS
    CCDS81498.1
    UniProtKB/TrEMBL
    Q5T6H7
    Related
    ENSP00000358697.1, ENST00000369683.5
    Conserved Domains (3) summary
    cd01085
    Location:258480
    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:486548
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:86255
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
  3. NM_001324131.2NP_001311060.1  xaa-Pro aminopeptidase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL354951
  4. NM_001324132.2NP_001311061.1  xaa-Pro aminopeptidase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL354951
    UniProtKB/Swiss-Prot
    Q9NQW7
    Conserved Domains (4) summary
    cd01085
    Location:329551
    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:557619
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:157326
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:10154
    Creatinase_N; Creatinase/Prolidase N-terminal domain
  5. NM_001324133.2NP_001311062.1  xaa-Pro aminopeptidase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL354951
    Conserved Domains (5) summary
    COG0006
    Location:239609
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372594
    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:600627
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53197
    Creatinase_N; Creatinase/Prolidase N-terminal domain
  6. NM_001324134.2NP_001311063.1  xaa-Pro aminopeptidase 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL354951
    Conserved Domains (3) summary
    cd01085
    Location:198420
    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:426488
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:26195
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
  7. NM_001324135.2NP_001311064.1  xaa-Pro aminopeptidase 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL354951
  8. NM_001324136.1NP_001311065.1  xaa-Pro aminopeptidase 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL354951
  9. NM_020383.4NP_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/Swiss-Prot
    Q9NQW7
    Related
    ENSP00000421566.1, ENST00000502935.6
    Conserved Domains (5) summary
    COG0006
    Location:239609
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01085
    Location:372594
    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:600662
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl23800
    Location:53197
    Creatinase_N; Creatinase/Prolidase N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016615.1XP_016872104.1  xaa-Pro aminopeptidase 1 isoform X3

    UniProtKB/TrEMBL
    Q5T6H7
    Conserved Domains (3) summary
    cd01085
    Location:258480
    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:486548
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:86255
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
  2. XM_024448156.1XP_024303924.1  xaa-Pro aminopeptidase 1 isoform X4

    Conserved Domains (3) summary
    cd01085
    Location:198420
    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:426488
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:26195
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
  3. XM_017016613.2XP_016872102.1  xaa-Pro aminopeptidase 1 isoform X1

  4. XM_011540134.2XP_011538436.1  xaa-Pro aminopeptidase 1 isoform X2

    Conserved Domains (5) summary
    COG0006
    Location:239551
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    pfam16188
    Location:542604
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:207369
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    cl00279
    Location:372536
    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:53197
    Creatinase_N; Creatinase/Prolidase N-terminal domain
  5. XM_017016614.1XP_016872103.1  xaa-Pro aminopeptidase 1 isoform X3

    UniProtKB/TrEMBL
    Q5T6H7
    Conserved Domains (3) summary
    cd01085
    Location:258480
    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:486548
    Peptidase_M24_C; C-terminal region of peptidase_M24
    pfam16189
    Location:86255
    Creatinase_N_2; Creatinase/Prolidase N-terminal domain
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