• Gene id: 51056

Gene Summary

• Gene Symbol: LAP3   Gene   UCSC   Ensembl
• Aliases: HEL-S-106, LAP, LAPEP, PEPS
• Gene name: leucine aminopeptidase 3
• Alternate names: cytosol aminopeptidase, LAP-3, epididymis secretory protein Li 106, leucyl aminopeptidase, peptidase S, proline aminopeptidase, prolyl aminopeptidase,
• Gene location: 4p15.32 (29019370: 29004383)     Exons: 6     NC_000021.9
• OMIM: 170250

SNPs

rs13017562

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

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

Protein Summary

• Protein general information: P28838  
  • Name: Cytosol aminopeptidase (EC 3.4.11.1) (Leucine aminopeptidase 3) (LAP 3) (Leucyl aminopeptidase) (Peptidase S) (Proline aminopeptidase) (EC 3.4.11.5) (Prolyl aminopeptidase)
  • Length: 519  
  • Mass: 56166
• Sequence:

  MFLLPLPAAGRVVVRRLAVRRFGSRSLSTADMTKGLVLGIYSKEKEDDVPQFTSAGENFDKLLAGKLRETLNISG
  PPLKAGKTRTFYGLHQDFPSVVLVGLGKKAAGIDEQENWHEGKENIRAAVAAGCRQIQDLELSSVEVDPCGDAQA
  AAEGAVLGLYEYDDLKQKKKMAVSAKLYGSGDQEAWQKGVLFASGQNLARQLMETPANEMTPTRFAEIIEKNLKS
  ASSKTEVHIRPKSWIEEQAMGSFLSVAKGSDEPPVFLEIHYKGSPNANEPPLVFVGKGITFDSGGISIKASANMD
  LMRADMGGAATICSAIVSAAKLNLPINIIGLAPLCENMPSGKANKPGDVVRAKNGKTIQVDNTDAEGRLILADAL
  CYAHTFNPKVILNAATLTGAMDVALGSGATGVFTNSSWLWNKLFEASIETGDRVWRMPLFEHYTRQVVDCQLADV
  NNIGKYRSAGACTAAAFLKEFVTHPKWAHLDIAGVMTNKDEVPYLRKGMTGRPTRTLIEFLLRFSQDNA

• Structural information:
  • Interpro: IPR011356  IPR000819  IPR023042  IPR008283  
  • Prosite: PS00631
  • CDD: cd00433
  • STRING: ENSP00000226299
• Other Databases: GeneCards:  LAP3  Malacards:  LAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0019538	protein metabolic process	IEA	biological process
GO:0030145	manganese ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008235	metalloexopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006508	proteolysis	NAS	biological process
GO:0004177	aminopeptidase activity	NAS	molecular function
GO:0008235	metalloexopeptidase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881