ANPEP alanyl aminopeptidase, membrane [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANPEPprovided by HGNC
Official Full Name: alanyl aminopeptidase, membraneprovided by HGNC
Primary source: HGNC:HGNC:500
See related: Ensembl:ENSG00000166825 MIM:151530; AllianceGenome:HGNC:500
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: APN; AP-M; AP-N; CD13; LAP1; P150; PEPN; hAPN; GP150
Summary: Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression: Biased expression in duodenum (RPKM 1193.1), small intestine (RPKM 1007.5) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89784895..89814852, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87540783..87570713, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90328126..90358084, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD13 expression affects glioma patient survival and influences key functions of human glioblastoma cell lines in vitro.
Title: CD13 expression affects glioma patient survival and influences key functions of human glioblastoma cell lines in vitro.
CD13 facilitates immune cell migration and aggravates acute injury but promotes chronic post-stroke recovery.
Title: CD13 facilitates immune cell migration and aggravates acute injury but promotes chronic post-stroke recovery.
Aminopeptidase N/CD13 Crosslinking Promotes the Activation and Membrane Expression of Integrin CD11b/CD18.
Title: Aminopeptidase N/CD13 Crosslinking Promotes the Activation and Membrane Expression of Integrin CD11b/CD18.
Altered serum levels of platelet-derived growth factor receptor beta and cluster of differentiation 13 suggest a role for pericytes in West syndrome.
Title: Altered serum levels of platelet-derived growth factor receptor β and cluster of differentiation 13 suggest a role for pericytes in West syndrome.
Reduced expression of alanyl aminopeptidase is a robust biomarker of non-familial adenomatous polyposis and non-hereditary nonpolyposis colorectal cancer syndrome early-onset colorectal cancer.
Title: Reduced expression of alanyl aminopeptidase is a robust biomarker of non-familial adenomatous polyposis and non-hereditary nonpolyposis colorectal cancer syndrome early-onset colorectal cancer.
Soluble ANPEP Released From Human Astrocytes as a Positive Regulator of Microglial Activation and Neuroinflammation: Brain Renin-Angiotensin System in Astrocyte-Microglia Crosstalk.
Title: Soluble ANPEP Released From Human Astrocytes as a Positive Regulator of Microglial Activation and Neuroinflammation: Brain Renin-Angiotensin System in Astrocyte-Microglia Crosstalk.
Abnormal CD13/HLA-DR Expression Pattern on Myeloblasts Predicts Development of Myeloid Neoplasia in Patients With Clonal Cytopenia of Undetermined Significance.
Title: Abnormal CD13/HLA-DR Expression Pattern on Myeloblasts Predicts Development of Myeloid Neoplasia in Patients With Clonal Cytopenia of Undetermined Significance.
[The Relationship between the Expressions of CD33 and CD13 and the Prognosis of Patients with Multiple Myeloma].
Title: [The Relationship between the Expressions of CD33 and CD13 and the Prognosis of Patients with Multiple Myeloma].
CD13 is a critical regulator of cell-cell fusion in osteoclastogenesis.
Title: CD13 is a critical regulator of cell-cell fusion in osteoclastogenesis.
CD13 orients the apical-basal polarity axis necessary for lumen formation.
Title: CD13 orients the apical-basal polarity axis necessary for lumen formation.

Submit: New GeneRIF Correction See all GeneRIFs (114)

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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ANPEP_1718 (e-PCR)
- UniSTS:276996

D2S2822 (e-PCR)
- UniSTS:30484

D15S1289 (e-PCR)
- UniSTS:32077

D15S1186 (e-PCR)
- UniSTS:68438

MARC_3220-3221:991936916:1 (e-PCR)
- UniSTS:231001

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: aminopeptidase N

Names: alanyl (membrane) aminopeptidase; aminopeptidase M; membrane alanyl aminopeptidase; microsomal aminopeptidase; myeloid plasma membrane glycoprotein CD13

NP_001141.2

EC 3.4.11.2

NP_001368852.1

EC 3.4.11.2

NP_001368853.1

EC 3.4.11.2

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)

NM_001150.3 → NP_001141.2 aminopeptidase N precursor

See identical proteins and their annotated locations for NP_001141.2

Status: REVIEWED

Source sequence(s)

AB209918, AC018988, AC079075, BC058928, BQ879097

Consensus CDS

CCDS10356.1

UniProtKB/Swiss-Prot

P15144, Q16728, Q6GT90, Q8IUK3, Q8IVH3, Q9UCE0

UniProtKB/TrEMBL

Q59E93

Related

ENSP00000300060.6, ENST00000300060.7

Conserved Domains (2) summary

cd09601
Location:84 → 545

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:619 → 946

ERAP1_C; ERAP1-like C-terminal domain
NM_001381923.1 → NP_001368852.1 aminopeptidase N

Status: REVIEWED

Source sequence(s)

AC018988, AC079075

Consensus CDS

CCDS10356.1

UniProtKB/Swiss-Prot

P15144, Q16728, Q6GT90, Q8IUK3, Q8IVH3, Q9UCE0

UniProtKB/TrEMBL

Q59E93

Related

ENSP00000453413.2, ENST00000560137.2

Conserved Domains (2) summary

cd09601
Location:84 → 545

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:619 → 946

ERAP1_C; ERAP1-like C-terminal domain
NM_001381924.1 → NP_001368853.1 aminopeptidase N

Status: REVIEWED

Source sequence(s)

AC018988, AC079075

Consensus CDS

CCDS10356.1

UniProtKB/Swiss-Prot

P15144, Q16728, Q6GT90, Q8IUK3, Q8IVH3, Q9UCE0

UniProtKB/TrEMBL

Q59E93

Conserved Domains (2) summary

cd09601
Location:84 → 545

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:619 → 946

ERAP1_C; ERAP1-like C-terminal domain