NAALADL1 (N-acetylated alpha-linked acidic dipeptidase like 1)

Gene

• Entrez ID: 10004
• Gene name: N-acetylated alpha-linked acidic dipeptidase like 1
• Gene symbol: NAALADL1
• Synonyms (NCBI Gene): HILAP, I100, NAALADASEL
• Chromosome: 11
• Chromosome location: 11q13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2278769	hsa-miR-1258	CLIP-seq
MIRT2278770	hsa-miR-1321	CLIP-seq
MIRT2278771	hsa-miR-3162-5p	CLIP-seq
MIRT2278772	hsa-miR-331-3p	CLIP-seq
MIRT2278773	hsa-miR-339-5p	CLIP-seq
MIRT2278774	hsa-miR-3613-5p	CLIP-seq
MIRT2278775	hsa-miR-370	CLIP-seq
MIRT2278776	hsa-miR-4653-3p	CLIP-seq
MIRT2278777	hsa-miR-4675	CLIP-seq
MIRT2278778	hsa-miR-4687-3p	CLIP-seq
MIRT2278779	hsa-miR-4739	CLIP-seq
MIRT2278780	hsa-miR-4741	CLIP-seq
MIRT2278781	hsa-miR-4756-5p	CLIP-seq
MIRT2278782	hsa-miR-651	CLIP-seq
MIRT2577061	hsa-miR-1255a	CLIP-seq
MIRT2577062	hsa-miR-1255b	CLIP-seq
MIRT2577063	hsa-miR-1266	CLIP-seq
MIRT2577064	hsa-miR-1296	CLIP-seq
MIRT2577065	hsa-miR-219-1-3p	CLIP-seq
MIRT2577066	hsa-miR-2909	CLIP-seq
MIRT2577067	hsa-miR-29a	CLIP-seq
MIRT2577068	hsa-miR-29b	CLIP-seq
MIRT2577069	hsa-miR-29c	CLIP-seq
MIRT2577070	hsa-miR-3064-3p	CLIP-seq
MIRT2577071	hsa-miR-3158-3p	CLIP-seq
MIRT2577072	hsa-miR-33a	CLIP-seq
MIRT2577073	hsa-miR-33b	CLIP-seq
MIRT2577074	hsa-miR-3649	CLIP-seq
MIRT2577075	hsa-miR-4252	CLIP-seq
MIRT2577076	hsa-miR-4270	CLIP-seq
MIRT2577077	hsa-miR-4441	CLIP-seq
MIRT2577078	hsa-miR-4446-3p	CLIP-seq
MIRT2577079	hsa-miR-4518	CLIP-seq
MIRT2577080	hsa-miR-4715-3p	CLIP-seq
MIRT2577081	hsa-miR-4733-3p	CLIP-seq
MIRT2577082	hsa-miR-571	CLIP-seq
MIRT2577061	hsa-miR-1255a	CLIP-seq
MIRT2577062	hsa-miR-1255b	CLIP-seq
MIRT2577063	hsa-miR-1266	CLIP-seq
MIRT2577065	hsa-miR-219-1-3p	CLIP-seq
MIRT2577067	hsa-miR-29a	CLIP-seq
MIRT2577068	hsa-miR-29b	CLIP-seq
MIRT2577069	hsa-miR-29c	CLIP-seq
MIRT2577072	hsa-miR-33a	CLIP-seq
MIRT2577073	hsa-miR-33b	CLIP-seq
MIRT2685717	hsa-miR-3664-3p	CLIP-seq
MIRT2685718	hsa-miR-4436a	CLIP-seq
MIRT2685719	hsa-miR-4514	CLIP-seq
MIRT2577079	hsa-miR-4518	CLIP-seq
MIRT2685720	hsa-miR-4690-5p	CLIP-seq
MIRT2685721	hsa-miR-4692	CLIP-seq
MIRT2577080	hsa-miR-4715-3p	CLIP-seq
MIRT2685722	hsa-miR-4722-5p	CLIP-seq
MIRT2577081	hsa-miR-4733-3p	CLIP-seq
MIRT2685723	hsa-miR-4768-3p	CLIP-seq
MIRT2577082	hsa-miR-571	CLIP-seq
MIRT2685724	hsa-miR-7	CLIP-seq
MIRT2685725	hsa-miR-873	CLIP-seq
MIRT2685726	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004177	Function	Aminopeptidase activity	IDA	25752612
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0004180	Function	Carboxypeptidase activity	IBA
GO:0005509	Function	Calcium ion binding	IDA	25752612
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	NAS	9388249
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	25752612
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	9388249
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	25752612
GO:0043171	Process	Peptide catabolic process	IDA	25752612
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 602640
• HGNC: 23536
• e!Ensembl: ENSG00000168060

Protein

• UniProt ID: Q9UQQ1
• Protein 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)
• Protein function: Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the
• PDB: 4TWE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02225	PA	145 → 250	PA domain	Family
  PF04389	Peptidase_M28	348 → 559	Peptidase family M28	Family
  PF04253	TFR_dimer	616 → 735	Transferrin receptor-like dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in small intestine (at protein level) (PubMed:25752612). Detected in ileum (PubMed:9388249). Detected in small intestine, spleen and testis. Isoform 2 and isoform 3 are found in the small intestine and colon (PubMed:10085079).
• Sequence:

  MQWTKVLGLGLGAAALLGLGIILGHFAIPKKANSLAPQDLDLEILETVMGQLDAHRIREN
  LRELSREPHLASSPRDEDLVQLLLQRWKDPESGLDSAEASTYEVLLSFPSQEQPNVVDIV
  GPTGGIIHSCHRTEENVTGEQGGPDVVQPYAAYAPSGTPQGLLVYANRGAEEDFKELQTQ
  GIKLEGTIALTRYGGVGRGAKAVNAAKHGVAGVLVYTDPADINDGLSSPDETFPNSWYLP
  PSGVERGSYYEYFGDPLTPYLPAVPSSFRVDLANVSGFPPIPTQPIGFQDARDLLCNLNG
  TLAPATWQGALGCHYRLGPGFRPDGDFPADSQVNVSVYNRLELRNSSNVLGIIRGAVEPD
  RYVLYGNHRDSWVHGAVDPSSGTAVLLELSRVLGTLLKKGTWRPRRSIVFASWGAEEFGL
  IGSTEFTEEFFNKLQERTVAYINVDISVFANATLRVQGTPPVQSVVFSATKEIRSPGPGD
  LSIYDNWIRYFNRSSPVYGLVPSLGSLGAGSDYAPFVHFLGISSMDIAYTYDRSKTSARI
  YPTYHTAFDTFDYVDKFLDPGFSSHQAVARTAGSVILRLSDSFFLPLKVSDYSETLRSFL
  QAAQQDLGALLEQHSISLGPLVTAVEKFEAEAAALGQRISTLQKGSPDPLQVRMLNDQLM
  LLERTFLNPRAFPEERYYSHVLWAPRTGSVVTFPGLSNACSRARDTASGSEAWAEVQRQL
  SIVVTALEGAAATLRPVADL

• Sequence length: 740

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Retinal dystrophy	Uncertain significance	rs749175914, rs138345812	RCV004818272 RCV004818274