Q9UQQ1 (NALDL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 101.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: N-acetylated-alpha-linked acidic dipeptidase-like protein Short name=NAALADase L EC=3.4.17.21 Alternative name(s): 100 kDa ileum brush border membrane protein Short name=I100 Ileal dipeptidylpeptidase | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 740 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | NAALADase-like activity unknown. Has no NAAG hydrolyzing activity. Exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC By similarity. |
| Catalytic activity | Release of an unsubstituted, C-terminal glutamyl residue, typically from Ac-Asp-Glu or folylpoly-gamma-glutamates. |
| Cofactor | Binds 2 zinc ions per subunit By similarity. |
| Subcellular location | Apical cell membrane; Single-pass type II membrane protein. Note: Ileal brush border membrane. |
| Tissue specificity | Mainly expressed in the distal small intestine. Also expressed in the spleen and testis. Weak expression in the brain, locating mainly to the brain stem, amygdala, thalamus and ventral striatum. Isoform 2 and 3 isoform 3 are found in the small intestine and colon. |
| Sequence similarities | Belongs to the peptidase M28 family. M28B subfamily. |
| Sequence caution | The sequence AAB87645.1 differs from that shown. Reason: Frameshift at positions 686 and 693. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal-anchor Transmembrane Transmembrane helix |
| Ligand | Metal-binding Zinc |
| Molecular function | Carboxypeptidase Dipeptidase Hydrolase Metalloprotease Protease |
| PTM | Glycoprotein |
| Technical term | Complete proteome Multifunctional enzyme Reference proteome |
| Gene Ontology (GO) | |
| Biological process | proteolysis Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | apical plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneNon-traceable author statement Ref.3. Source: UniProtKB |
| Molecular function | carboxypeptidase activity Inferred from electronic annotation. Source: UniProtKB-KW dipeptidase activityInferred from electronic annotation. Source: UniProtKB-KW metal ion bindingInferred from electronic annotation. Source: UniProtKB-KW metallopeptidase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9UQQ1-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9UQQ1-2) The sequence of this isoform differs from the canonical sequence as follows: 161-201: Missing. | ||||||
| Isoform 3 (identifier: Q9UQQ1-3) The sequence of this isoform differs from the canonical sequence as follows: 296-330: Missing. | ||||||
| Isoform 4 (identifier: Q9UQQ1-4) The sequence of this isoform differs from the canonical sequence as follows: 359-359: P → PGEPSSCCLHPRPLLCSGCRCPHPALPLPPPSPAPPAHLSLSSGSLPLFLWP | ||||||
| Isoform 5 (identifier: Q9UQQ1-5) The sequence of this isoform differs from the canonical sequence as follows: 502-522: PSLGSLGAGSDYAPFVHFLGI → PRLQQPSGCGPDSGECDSPAQ 523-740: Missing. | ||||||
| Isoform 6 (identifier: Q9UQQ1-6) The sequence of this isoform differs from the canonical sequence as follows: 502-543: PSLGSLGAGS...SKTSARIYPT → PRARLQPGSP...IRLWPGQRGV 544-740: Missing. | ||||||
| Isoform 7 (identifier: Q9UQQ1-7) The sequence of this isoform differs from the canonical sequence as follows: 562-579: FSSHQAVARTAGSVILRL → FEEGDKGHPETRTGEAED 580-740: Missing. | ||||||
| Isoform 8 (identifier: Q9UQQ1-8) The sequence of this isoform differs from the canonical sequence as follows: 619-635: GPLVTAVEKFEAEAAAL → GMHSPDPEVWGALHPHD 636-740: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 740 | 740 | N-acetylated-alpha-linked acidic dipeptidase-like protein | PRO_0000174123 | |||||
Regions | |||||||||
| Topological domain | 1 – 6 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 7 – 28 | 22 | Helical; Signal-anchor for type II membrane protein; Potential | ||||||
| Topological domain | 29 – 740 | 712 | Extracellular Potential | ||||||
| Region | 263 – 579 | 317 | NAALADase | ||||||
Sites | |||||||||
| Active site | 416 | 1 | Nucleophile; for NAALADase activity By similarity | ||||||
| Active site | 617 | 1 | Charge relay system Potential | ||||||
| Active site | 657 | 1 | Charge relay system Potential | ||||||
| Active site | 680 | 1 | Charge relay system Potential | ||||||
| Metal binding | 368 | 1 | Zinc 2 By similarity | ||||||
| Metal binding | 378 | 1 | Zinc 1 By similarity | ||||||
| Metal binding | 378 | 1 | Zinc 2 By similarity | ||||||
| Metal binding | 417 | 1 | Zinc 1 By similarity | ||||||
| Metal binding | 445 | 1 | Zinc 2 By similarity | ||||||
| Metal binding | 545 | 1 | Zinc 1 By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 136 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 274 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 299 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 334 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 345 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 451 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 492 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 161 – 201 | 41 | Missing in isoform 2. | VSP_005343 | |||||
| Alternative sequence | 296 – 330 | 35 | Missing in isoform 3. | VSP_005344 | |||||
| Alternative sequence | 359 | 1 | P → PGEPSSCCLHPRPLLCSGCR CPHPALPLPPPSPAPPAHLS LSSGSLPLFLWP in isoform 4. | VSP_005345 | |||||
| Alternative sequence | 502 – 543 | 42 | PSLGS…RIYPT → PRARLQPGSPPTTQPLTPLT MWTSFWTRASAAIRLWPGQR GV in isoform 6. | VSP_005348 | |||||
| Alternative sequence | 502 – 522 | 21 | PSLGS…HFLGI → PRLQQPSGCGPDSGECDSPA Q in isoform 5. | VSP_005346 | |||||
| Alternative sequence | 523 – 740 | 218 | Missing in isoform 5. | VSP_005347 | |||||
| Alternative sequence | 544 – 740 | 197 | Missing in isoform 6. | VSP_005349 | |||||
| Alternative sequence | 562 – 579 | 18 | FSSHQ…VILRL → FEEGDKGHPETRTGEAED in isoform 7. | VSP_005350 | |||||
| Alternative sequence | 580 – 740 | 161 | Missing in isoform 7. | VSP_005351 | |||||
| Alternative sequence | 619 – 635 | 17 | GPLVT…EAAAL → GMHSPDPEVWGALHPHD in isoform 8. | VSP_005352 | |||||
| Alternative sequence | 636 – 740 | 105 | Missing in isoform 8. | VSP_005353 | |||||
| Natural variant | 2 | 1 | Q → H. Corresponds to variant rs35422506 [ dbSNP | Ensembl ]. | VAR_057155 | |||||
| Natural variant | 398 | 1 | K → T. Corresponds to variant rs12223986 [ dbSNP | Ensembl ]. | VAR_057156 | |||||
| Natural variant | 611 | 1 | L → V. Corresponds to variant rs36053340 [ dbSNP | Ensembl ]. | VAR_057157 | |||||
Experimental info | |||||||||
| Sequence conflict | 420 – 424 | 5 | LIGST → SPGLQ in AAB87645. Ref.3 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ012371 mRNA. Translation: CAB39968.1. AP003068 Genomic DNA. No translation available. AF010141 mRNA. Translation: AAB87645.1. Frameshift. |
| IPI | IPI00023152. IPI00216497. IPI00216498. IPI00216499. IPI00216500. IPI00216502. IPI00413011. IPI00952635. |
| RefSeq | NP_005459.2. NM_005468.2. |
| UniGene | Hs.13967. |
3D structure databases | |
| ProteinModelPortal | Q9UQQ1. |
| SMR | Q9UQQ1. Positions 55-102, 375-431. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9UQQ1. |
Protein family/group databases | |
| MEROPS | M28.011. |
PTM databases | |
| PhosphoSite | Q9UQQ1. |
Polymorphism databases | |
| DMDM | 20139287. |
Proteomic databases | |
| PRIDE | Q9UQQ1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000358658; ENSP00000351484; ENSG00000168060. |
| GeneID | 10004. |
| KEGG | hsa:10004. |
| UCSC | uc001ocn.1. human. |
Organism-specific databases | |
| CTD | 10004. |
| GeneCards | GC11M064812. |
| H-InvDB | HIX0035851. |
| HGNC | HGNC:23536. NAALADL1. |
| MIM | 602640. gene. |
| neXtProt | NX_Q9UQQ1. |
| PharmGKB | PA134867982. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG09463. |
| GeneTree | ENSGT00550000074421. |
| HOVERGEN | HBG051639. |
| OMA | MDIAYTY. |
| PhylomeDB | Q9UQQ1. |
Gene expression databases | |
| ArrayExpress | Q9UQQ1. |
| Bgee | Q9UQQ1. |
| CleanEx | HS_NAALADL1. |
| Genevestigator | Q9UQQ1. |
| GermOnline | ENSG00000168060. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007484. Peptidase_M28. IPR003137. Protease-assoc_domain. IPR007365. TFR-like_dimer_dom. [Graphical view] |
| Gene3D | G3DSA:1.20.930.40. TFR_dimer. 1 hit. |
| KO | K01301. |
| Pfam | PF02225. PA. 1 hit. PF04389. Peptidase_M28. 1 hit. PF04253. TFR_dimer. 1 hit. [Graphical view] |
| SUPFAM | SSF47672. Transferrin_rcpt-like_dimerise. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 37785. |
| SOURCE | Search... |
Entry information
| Entry name | NALDL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UQQ1 Secondary accession number(s): C9J8A1 O43176 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Peptidase families Classification of peptidase families and list of entries |
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with