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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
    mouse all
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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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