Human Gene ANPEP (ENST00000300060.7_7) from GENCODE V47lift37
  Description: alanyl aminopeptidase, membrane, transcript variant 2 (from RefSeq NM_001381923.1)
Gencode Transcript: ENST00000300060.7_7
Gencode Gene: ENSG00000166825.15_15
Transcript (Including UTRs)
   Position: hg19 chr15:90,328,126-90,358,084 Size: 29,959 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr15:90,328,580-90,349,814 Size: 21,235 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:90,328,126-90,358,084)mRNA (may differ from genome)Protein (967 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AMPN_HUMAN
DESCRIPTION: RecName: Full=Aminopeptidase N; Short=AP-N; Short=hAPN; EC=3.4.11.2; AltName: Full=Alanyl aminopeptidase; AltName: Full=Aminopeptidase M; Short=AP-M; AltName: Full=Microsomal aminopeptidase; AltName: Full=Myeloid plasma membrane glycoprotein CD13; AltName: Full=gp150; AltName: CD_antigen=CD13;
FUNCTION: Broad specificity aminopeptidase. Plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. May play a critical role in the pathogenesis of cholesterol gallstone disease. May be involved in the metabolism of regulatory peptides of diverse cell types including small intestinal and tubular epithelial cells, macrophages, granulocytes and synaptic membranes from the CNS. Found to cleave antigen peptides bound to major histocompatibility complex class II molecules of presenting cells and to degrade neurotransmitters at synaptic junctions. Is also implicated as a regulator of IL-8 bioavailability in the endometrium, and therefore may contribute to the regulation of angiogenesis. Is used as a marker for acute myeloid leukemia and plays a role in tumor invasion. In case of human coronavirus 229E (HCoV-229E) infection, serves as receptor for HCoV-229E spike glycoprotein. Mediates as well human cytomegalovirus (HCMV) infection.
CATALYTIC ACTIVITY: Release of an N-terminal amino acid, Xaa-|- Yaa- from a peptide, amide or arylamide. Xaa is preferably Ala, but may be most amino acids including Pro (slow action). When a terminal hydrophobic residue is followed by a prolyl residue, the two may be released as an intact Xaa-Pro dipeptide.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBUNIT: Homodimer. Interacts with the S1 domain of HCoV-229E spike protein.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Cytoplasm, cytosol (Potential). Note=A soluble form has also been detected.
TISSUE SPECIFICITY: Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood- brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients.
INDUCTION: Estradiol and IL8/interleukin-8 decrease enzymatic activity in vitro in endometrial stromal cells by 40% and 30%, respectively.
DOMAIN: Amino acids 260-353 are essential to mediate susceptibility to infection with HCoV-229E (in porcine/human chimeric studies) and more specifically amino acids 288-295 (mutagenesis studies).
PTM: Sulfated (By similarity).
PTM: N- and O-glycosylated.
PTM: May undergo proteolysis and give rise to a soluble form.
MISCELLANEOUS: Found to serve as a receptor for tumor-homing peptides, more specifically NGR peptides. It could serve thus as a target for delivering drugs into tumors. Concentration in human hepatic bile, varies from 17.3 to 57.6 micrograms/ml.
SIMILARITY: Belongs to the peptidase M1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ANPEP
Diseases sorted by gene-association score: gastroenteritis (25), tetrasomy 21 (18), mast-cell sarcoma (15), myelophthisic anemia (11), acute leukemia (9), myeloid sarcoma (9), lactose intolerance (9), leukemia, acute lymphoblastic (6), central nervous system leukemia (6), aleukemic leukemia cutis (6), leukemia, acute promyelocytic, somatic (5), reticulosarcoma (5), mediastinal cancer (5), vascular cancer (5), leukemia, acute myeloid (5), leukemia, acute lymphoblastic 3 (4), myelodysplastic syndrome (3), bone marrow cancer (2), chronic lymphocytic leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 701.09 RPKM in Small Intestine - Terminal Ileum
Total median expression: 1826.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.30304-0.445 Picture PostScript Text
3' UTR -173.70454-0.383 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024571 - DUF3358
IPR001930 - Peptidase_M1
IPR014782 - Peptidase_M1_N

Pfam Domains:
PF01433 - Peptidase family M1 domain
PF11838 - ERAP1-like C-terminal domain
PF17900 - Peptidase M1 N-terminal domain

SCOP Domains:
140959 - Indolic compounds 2,3-dioxygenase-like
63737 - Leukotriene A4 hydrolase N-terminal domain
55486 - Metalloproteases ("zincins"), catalytic domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4FYQ - X-ray MuPIT 4FYR - X-ray MuPIT 4FYS - X-ray MuPIT 4FYT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P15144
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0004177 aminopeptidase activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0038023 signaling receptor activity
GO:0042277 peptide binding
GO:0046872 metal ion binding
GO:0070006 metalloaminopeptidase activity

Biological Process:
GO:0001525 angiogenesis
GO:0006508 proteolysis
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0008217 regulation of blood pressure
GO:0016032 viral process
GO:0030154 cell differentiation
GO:0043171 peptide catabolic process
GO:0043312 neutrophil degranulation
GO:0046718 viral entry into host cell

Cellular Component:
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030667 secretory granule membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895998 - Sequence 862 from Patent EP3253886.
BC058928 - Homo sapiens alanyl (membrane) aminopeptidase, mRNA (cDNA clone MGC:65137 IMAGE:6020902), complete cds.
M22324 - Human aminopeptidase N/CD13 mRNA encoding aminopeptidase N, complete cds.
AB209918 - Homo sapiens mRNA for membrane alanine aminopeptidase precursor variant protein.
X13276 - Human mRNA for aminopeptidase N (EC 3.4.11.2).
AK298339 - Homo sapiens cDNA FLJ55496 complete cds, highly similar to Aminopeptidase N (EC 3.4.11.2).
JD187929 - Sequence 168953 from Patent EP1572962.
AK300946 - Homo sapiens cDNA FLJ56158 complete cds, highly similar to Aminopeptidase N (EC 3.4.11.2).
JD134086 - Sequence 115110 from Patent EP1572962.
JD058472 - Sequence 39496 from Patent EP1572962.
AK298134 - Homo sapiens cDNA FLJ56120 complete cds, highly similar to Aminopeptidase N (EC 3.4.11.2).
JD469719 - Sequence 450743 from Patent EP1572962.
JD361709 - Sequence 342733 from Patent EP1572962.
JD229646 - Sequence 210670 from Patent EP1572962.
AK298242 - Homo sapiens cDNA FLJ51269 complete cds, highly similar to Aminopeptidase N (EC 3.4.11.2).
JD270308 - Sequence 251332 from Patent EP1572962.
JD230308 - Sequence 211332 from Patent EP1572962.
JD039973 - Sequence 20997 from Patent EP1572962.
JD097947 - Sequence 78971 from Patent EP1572962.
JD347350 - Sequence 328374 from Patent EP1572962.
KJ896423 - Synthetic construct Homo sapiens clone ccsbBroadEn_05817 ANPEP gene, encodes complete protein.
AB462940 - Synthetic construct DNA, clone: pF1KB5666, Homo sapiens ANPEP gene for alanyl (membrane) aminopeptidase, without stop codon, in Flexi system.
JD513366 - Sequence 494390 from Patent EP1572962.
JD180148 - Sequence 161172 from Patent EP1572962.
JD409801 - Sequence 390825 from Patent EP1572962.
JD315850 - Sequence 296874 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4061 - glutathione-mediated detoxification I
PWY-7112 - 4-hydroxy-2-nonenal detoxification

BioCarta from NCI Cancer Genome Anatomy Project
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development
h_SARSpathway - SARS Coronavirus Protease

Reactome (by CSHL, EBI, and GO)

Protein P15144 (Reactome details) participates in the following event(s):

R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-2022393 ANPEP hydrolyzes Angiotensin-(2-8) to Angiotensin-(3-8)
R-HSA-6798695 Neutrophil degranulation
R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-168249 Innate Immune System
R-HSA-2980736 Peptide hormone metabolism
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AMPN_HUMAN, APN, CD13, ENST00000300060.1, ENST00000300060.2, ENST00000300060.3, ENST00000300060.4, ENST00000300060.5, ENST00000300060.6, NM_001381923, P15144, PEPN, Q16728, Q6GT90, Q8IUK3, Q8IVH3, Q9UCE0, uc317mng.1, uc317mng.2
UCSC ID: ENST00000300060.7_7
RefSeq Accession: NM_001150.3
Protein: P15144 (aka AMPN_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.