• Gene id: 290

Gene Summary

• Gene Symbol: ANPEP   Gene   UCSC   Ensembl
• Aliases: APN, CD13, GP150, LAP1, P150, PEPN
• Gene name: alanyl aminopeptidase, membrane
• Alternate names: aminopeptidase N, AP-M, AP-N, alanyl (membrane) aminopeptidase, aminopeptidase M, hAPN, membrane alanyl aminopeptidase, microsomal aminopeptidase, myeloid plasma membrane glycoprotein CD13,
• Gene location: 15q26.1 (89814851: 89784894)     Exons: 21     NC_000015.10
• Gene summary(Entrez): 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 gastri
• OMIM: 606881

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs852977

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.143307929A>G
NC_000005.9   g.142687494A>G
NG_009062.1   g.132584T>C|SEQ=[A/G]|GENE=NR3C1

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

Protein Summary

• Protein general information: P15144  
  • Name: Aminopeptidase N (AP N) (hAPN) (EC 3.4.11.2) (Alanyl aminopeptidase) (Aminopeptidase M) (AP M) (Microsomal aminopeptidase) (Myeloid plasma membrane glycoprotein CD13) (gp150) (CD antigen CD13)
  • Length: 967  
  • Mass: 109540
  • 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 express
• Sequence:

  MAKGFYISKSLGILGILLGVAAVCTIIALSVVYSQEKNKNANSSPVASTTPSASATTNPASATTLDQSKAWNRYR
  LPNTLKPDSYRVTLRPYLTPNDRGLYVFKGSSTVRFTCKEATDVIIIHSKKLNYTLSQGHRVVLRGVGGSQPPDI
  DKTELVEPTEYLVVHLKGSLVKDSQYEMDSEFEGELADDLAGFYRSEYMEGNVRKVVATTQMQAADARKSFPCFD
  EPAMKAEFNITLIHPKDLTALSNMLPKGPSTPLPEDPNWNVTEFHTTPKMSTYLLAFIVSEFDYVEKQASNGVLI
  RIWARPSAIAAGHGDYALNVTGPILNFFAGHYDTPYPLPKSDQIGLPDFNAGAMENWGLVTYRENSLLFDPLSSS
  SSNKERVVTVIAHELAHQWFGNLVTIEWWNDLWLNEGFASYVEYLGADYAEPTWNLKDLMVLNDVYRVMAVDALA
  SSHPLSTPASEINTPAQISELFDAISYSKGASVLRMLSSFLSEDVFKQGLASYLHTFAYQNTIYLNLWDHLQEAV
  NNRSIQLPTTVRDIMNRWTLQMGFPVITVDTSTGTLSQEHFLLDPDSNVTRPSEFNYVWIVPITSIRDGRQQQDY
  WLIDVRAQNDLFSTSGNEWVLLNLNVTGYYRVNYDEENWRKIQTQLQRDHSAIPVINRAQIINDAFNLASAHKVP
  VTLALNNTLFLIEERQYMPWEAALSSLSYFKLMFDRSEVYGPMKNYLKKQVTPLFIHFRNNTNNWREIPENLMDQ
  YSEVNAISTACSNGVPECEEMVSGLFKQWMENPNNNPIHPNLRSTVYCNAIAQGGEEEWDFAWEQFRNATLVNEA
  DKLRAALACSKELWILNRYLSYTLNPDLIRKQDATSTIISITNNVIGQGLVWDFVQSNWKKLFNDYGGGSFSFSN
  LIQAVTRRFSTEYELQQLEQFKKDNEETGFGSGTRALEQALEKTKANIKWVKENKEVVLQWFTENSK

• Structural information:
  • Interpro: IPR042097  IPR024571  IPR034016  IPR001930  IPR014782  
  • Prosite: PS00142
  • CDD: cd09601
  • PDB: 4FYQ 4FYR 4FYS 4FYT 5LHD 6ATK 6U7E 6U7F 6U7G
  • PDBsum: 4FYQ 4FYR 4FYS 4FYT 5LHD 6ATK 6U7E 6U7F 6U7G
  • STRING: ENSP00000300060
• Other Databases: GeneCards:  ANPEP  Malacards:  ANPEP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0042277	peptide binding	IBA	molecular function
GO:0043171	peptide catabolic process	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0070006	metalloaminopeptidase activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0001618	virus receptor activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0004177	aminopeptidase activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04640	Hematopoietic cell lineage
hsa00480	Glutathione metabolism
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq