• Gene id: 10004

Gene Summary

• Gene Symbol: NAALADL1   Gene   UCSC   Ensembl
• Aliases: I100, NAALADASEL
• Gene name: N-acetylated alpha-linked acidic dipeptidase like 1
• Alternate names: aminopeptidase NAALADL1, 100 kDa ileum brush border membrane protein, N-acetylated-alpha-linked acidic dipeptidase-like protein, NAALADase L, ileal dipeptidylpeptidase, ileal peptidase I100, peptidase homolog,
• Gene location: 11q13.1 (33755670: 33721475)     Exons: 12     NC_000006.12
• OMIM: 602640

Protein Summary

• Protein general information: Q9UQQ1  
  • Name: Aminopeptidase NAALADL1 (EC 3.4.11. ) (100 kDa ileum brush border membrane protein) (I100) (Ileal dipeptidylpeptidase) (N acetylated alpha linked acidic dipeptidase like protein) (NAALADase L)
  • Length: 740  
  • Mass: 80558
  • Tissue specificity: Detected in small intestine (at protein level) (PubMed
• Sequence:

  MQWTKVLGLGLGAAALLGLGIILGHFAIPKKANSLAPQDLDLEILETVMGQLDAHRIRENLRELSREPHLASSPR
  DEDLVQLLLQRWKDPESGLDSAEASTYEVLLSFPSQEQPNVVDIVGPTGGIIHSCHRTEENVTGEQGGPDVVQPY
  AAYAPSGTPQGLLVYANRGAEEDFKELQTQGIKLEGTIALTRYGGVGRGAKAVNAAKHGVAGVLVYTDPADINDG
  LSSPDETFPNSWYLPPSGVERGSYYEYFGDPLTPYLPAVPSSFRVDLANVSGFPPIPTQPIGFQDARDLLCNLNG
  TLAPATWQGALGCHYRLGPGFRPDGDFPADSQVNVSVYNRLELRNSSNVLGIIRGAVEPDRYVLYGNHRDSWVHG
  AVDPSSGTAVLLELSRVLGTLLKKGTWRPRRSIVFASWGAEEFGLIGSTEFTEEFFNKLQERTVAYINVDISVFA
  NATLRVQGTPPVQSVVFSATKEIRSPGPGDLSIYDNWIRYFNRSSPVYGLVPSLGSLGAGSDYAPFVHFLGISSM
  DIAYTYDRSKTSARIYPTYHTAFDTFDYVDKFLDPGFSSHQAVARTAGSVILRLSDSFFLPLKVSDYSETLRSFL
  QAAQQDLGALLEQHSISLGPLVTAVEKFEAEAAALGQRISTLQKGSPDPLQVRMLNDQLMLLERTFLNPRAFPEE
  RYYSHVLWAPRTGSVVTFPGLSNACSRARDTASGSEAWAEVQRQLSIVVTALEGAAATLRPVADL

• Structural information:
  • Interpro: IPR003137  IPR007484  IPR039373  IPR007365  IPR036757  
  • PDB: 4TWE
  • PDBsum: 4TWE
  • STRING: ENSP00000351484
• Other Databases: GeneCards:  NAALADL1  Malacards:  NAALADL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004180	carboxypeptidase activity	IBA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0043171	peptide catabolic process	IDA	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0016021	integral component of membrane	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0008233	peptidase activity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq