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NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 [ Homo sapiens (human) ]

Gene ID: 10004, updated on 3-Apr-2024

Summary

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Official Symbol
NAALADL1provided by HGNC
Official Full Name
N-acetylated alpha-linked acidic dipeptidase like 1provided by HGNC
Primary source
HGNC:HGNC:23536
See related
Ensembl:ENSG00000168060 MIM:602640; AllianceGenome:HGNC:23536
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
I100; HILAP; NAALADASEL
Summary
Enables aminopeptidase activity; metal ion binding activity; and protein homodimerization activity. Involved in peptide catabolic process. Predicted to be located in apical plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in small intestine (RPKM 38.0), duodenum (RPKM 7.0) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65044818..65061203, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65038100..65054485, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64812290..64826025, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ARL2-SNX15 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 4003 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 Neighboring gene sorting nexin 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3507 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64811302-64811848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64814570-64815448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64815449-64816327 Neighboring gene SAC3 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 288 Neighboring gene cell division cycle associated 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64846103-64846604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64852413-64852997 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64857368-64857540 Neighboring gene zinc finger protein like 1 Neighboring gene transmembrane protein 262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64863491-64864285 Neighboring gene Sharpr-MPRA regulatory region 6888 Neighboring gene VPS51 subunit of GARP complex Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64877599-64878526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64878527-64879452

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structural and biochemical characterization of a novel aminopeptidase from human intestine. Tykvart J, et al. J Biol Chem, 2015 May 1. PMID 25752612, Free PMC Article
  2. Cloning and characterization of a novel peptidase from rat and human ileum. Shneider BL, et al. J Biol Chem, 1997 Dec 5. PMID 9388249
  3. Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity. Pangalos MN, et al. J Biol Chem, 1999 Mar 26. PMID 10085079
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. characterization of the protein product of the human NAALADL1 gene
    Title: Structural and biochemical characterization of a novel aminopeptidase from human intestine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables carboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in peptide catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
aminopeptidase NAALADL1
Names
100 kDa ileum brush border membrane protein
N-acetylated-alpha-linked acidic dipeptidase-like protein
NAALADase L
human ileal aminopeptidase
ileal dipeptidylpeptidase
ileal peptidase I100
peptidase homolog
NP_005459.2
XP_011543008.1
XP_011543009.1
XP_011543010.1
XP_011543013.1
XP_011543014.1
XP_047282125.1
XP_047282126.1
XP_047282127.1
XP_047282128.1
XP_047282130.1
XP_047282131.1
XP_054223322.1
XP_054223323.1
XP_054223324.1
XP_054223325.1
XP_054223326.1
XP_054223327.1
XP_054223328.1
XP_054223329.1
XP_054223330.1
XP_054223331.1
XP_054223332.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005468.3 → NP_005459.2  aminopeptidase NAALADL1

    See identical proteins and their annotated locations for NP_005459.2

    Status: VALIDATED

    Source sequence(s)
    AJ012371, AP003068, BG757994, BM681269
    Consensus CDS
    CCDS31604.1
    UniProtKB/Swiss-Prot
    C9J8A1, C9J964, C9JL35, C9JSN0, O43176, Q9UQQ1
    UniProtKB/TrEMBL
    C9JFW8
    Related
    ENSP00000351484.3, ENST00000358658.8
    Conserved Domains (4) summary
    cd02121
    Location:109 → 335
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    cd08022
    Location:348 → 587
    M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
    pfam04253
    Location:616 → 735
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl14876
    Location:46 → 121
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65044818..65061203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426169.1 → XP_047282125.1  aminopeptidase NAALADL1 isoform X2

  2. XM_011544707.3 → XP_011543009.1  aminopeptidase NAALADL1 isoform X2

    UniProtKB/TrEMBL
    C9JFW8
    Conserved Domains (4) summary
    cd02121
    Location:61 → 287
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    cd08022
    Location:300 → 539
    M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
    pfam04253
    Location:568 → 687
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl14876
    Location:1 → 73
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  3. XM_011544708.3 → XP_011543010.1  aminopeptidase NAALADL1 isoform X3

    UniProtKB/TrEMBL
    C9JFW8
    Conserved Domains (3) summary
    cd02121
    Location:109 → 335
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    pfam04253
    Location:563 → 682
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl14876
    Location:348 → 534
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  4. XM_011544706.3 → XP_011543008.1  aminopeptidase NAALADL1 isoform X1

    UniProtKB/TrEMBL
    C9JFW8
    Conserved Domains (3) summary
    cd02121
    Location:109 → 335
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    pfam04253
    Location:613 → 732
    TFR_dimer; Transferrin receptor-like dimerization domain
    cl14876
    Location:348 → 584
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

  5. XM_047426172.1 → XP_047282128.1  aminopeptidase NAALADL1 isoform X6

  6. XM_047426174.1 → XP_047282130.1  aminopeptidase NAALADL1 isoform X8

  7. XM_047426171.1 → XP_047282127.1  aminopeptidase NAALADL1 isoform X5

  8. XM_047426170.1 → XP_047282126.1  aminopeptidase NAALADL1 isoform X4

  9. XM_011544712.3 → XP_011543014.1  aminopeptidase NAALADL1 isoform X7

    See identical proteins and their annotated locations for XP_011543014.1

    Conserved Domains (3) summary
    cd02121
    Location:109 → 335
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    cl14876
    Location:348 → 449
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    cl17238
    Location:486 → 506
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  10. XM_011544711.3 → XP_011543013.1  aminopeptidase NAALADL1 isoform X7

    See identical proteins and their annotated locations for XP_011543013.1

    Conserved Domains (3) summary
    cd02121
    Location:109 → 335
    PA_GCPII_like; Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to the peptidase ...
    cl14876
    Location:348 → 449
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    cl17238
    Location:486 → 506
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

  11. XM_047426175.1 → XP_047282131.1  aminopeptidase NAALADL1 isoform X9

RNA

  1. XR_949728.3 RNA Sequence

  2. XR_007062429.1 RNA Sequence

  3. XR_007062430.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65038100..65054485 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367348.1 → XP_054223323.1  aminopeptidase NAALADL1 isoform X2

  2. XM_054367349.1 → XP_054223324.1  aminopeptidase NAALADL1 isoform X2

  3. XM_054367350.1 → XP_054223325.1  aminopeptidase NAALADL1 isoform X3

  4. XM_054367347.1 → XP_054223322.1  aminopeptidase NAALADL1 isoform X1

  5. XM_054367353.1 → XP_054223328.1  aminopeptidase NAALADL1 isoform X6

  6. XM_054367356.1 → XP_054223331.1  aminopeptidase NAALADL1 isoform X8

  7. XM_054367352.1 → XP_054223327.1  aminopeptidase NAALADL1 isoform X5

  8. XM_054367351.1 → XP_054223326.1  aminopeptidase NAALADL1 isoform X4

  9. XM_054367355.1 → XP_054223330.1  aminopeptidase NAALADL1 isoform X7

  10. XM_054367354.1 → XP_054223329.1  aminopeptidase NAALADL1 isoform X7

  11. XM_054367357.1 → XP_054223332.1  aminopeptidase NAALADL1 isoform X9

RNA

  1. XR_008488322.1 RNA Sequence

  2. XR_008488321.1 RNA Sequence

  3. XR_008488323.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UQQ1.2 GenPept UniProtKB/Swiss-Prot:Q9UQQ1

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