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    DNPEP aspartyl aminopeptidase [ Homo sapiens (human) ]

    Gene ID: 23549, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNPEPprovided by HGNC
    Official Full Name
    aspartyl aminopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:2981
    See related
    Ensembl:ENSG00000123992 MIM:611367; AllianceGenome:HGNC:2981
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAP; ASPEP
    Summary
    The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in small intestine (RPKM 15.5), duodenum (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNPEP in Genome Data Viewer
    Location:
    2q35
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219372043..219400007, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219856797..219884804, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220236765..220264729, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17150 Neighboring gene uncharacterized LOC105373883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220251315-220252161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12356 Neighboring gene DNPEP antisense RNA 1 Neighboring gene desmin locus control region Neighboring gene VISTA enhancer hs2169 Neighboring gene desmin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220313846-220314453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220315912-220316716 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 Neighboring gene striated muscle enriched protein kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220325404-220325584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220329861-220330528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220330529-220331194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220331442-220331984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220339972-220340679 Neighboring gene Sharpr-MPRA regulatory region 8597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220341387-220342094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220348981-220349782 Neighboring gene ASIC4 antisense RNA 1

    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. Identification of histidine residues important in the catalysis and structure of aspartyl aminopeptidase. Wilk S, et al. Arch Biochem Biophys, 2002 Nov 15. PMID 12413488
    2. Aspartyl Aminopeptidase Suppresses Proliferation, Invasion, and Stemness of Breast Cancer Cells via Targeting CD44. Geng N, et al. Anat Rec (Hoboken), 2019 Dec. PMID 31228326
    3. Structure of human aspartyl aminopeptidase complexed with substrate analogue: insight into catalytic mechanism, substrate specificity and M18 peptidase family. Chaikuad A, et al. BMC Struct Biol, 2012 Jun 21. PMID 22720794, Free PMC Article
    4. Clinical impact of aspartyl aminopeptidase expression and activity in colorectal cancer. Larrinaga G, et al. Transl Res, 2013 Nov. PMID 23948443
    5. Identification and characterization of novel inhibitors of Mammalian aspartyl aminopeptidase. Chen Y, et al. Mol Pharmacol, 2014 Aug. PMID 24913940, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aspartyl Aminopeptidase Suppresses Proliferation, Invasion, and Stemness of Breast Cancer Cells via Targeting CD44.
      Title: Aspartyl Aminopeptidase Suppresses Proliferation, Invasion, and Stemness of Breast Cancer Cells via Targeting CD44.
    2. aspartyl aminopeptidase was upregulated in colorectal cancer tissues, and greater activity correlated significantly with the absence of lymph node metastases and with better overall survival
      Title: Clinical impact of aspartyl aminopeptidase expression and activity in colorectal cancer.
    3. The crystal structure of human DNPEP complexed with zinc and a substrate analogue aspartate-beta-hydroxamate reveals a dodecameric machinery built by domain-swapped dimers.
      Title: Structure of human aspartyl aminopeptidase complexed with substrate analogue: insight into catalytic mechanism, substrate specificity and M18 peptidase family.
    4. Identification of histidine residues important in the catalysis and structure of aspartyl aminopeptidase
      Title: Identification of histidine residues important in the catalysis and structure of aspartyl aminopeptidase.
    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

    EBI GWAS Catalog

    Description
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in peptide metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    aspartyl aminopeptidase
    NP_001306045.1
    NP_001306046.1
    NP_001306047.1
    NP_001306048.1
    NP_001306049.1
    NP_001306050.1
    NP_001306051.1
    NP_036232.2

    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_001319116.2 → NP_001306045.1  aspartyl aminopeptidase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC053503, AK301919
      Consensus CDS
      CCDS82574.1
      UniProtKB/TrEMBL
      B7Z7F0, E7ETB3
      Related
      ENSP00000431076.1, ENST00000523282.6
      Conserved Domains (1) summary
      cd05658
      Location:36 → 481
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase

    2. NM_001319117.2 → NP_001306046.1  aspartyl aminopeptidase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC053503, AK301919, BI830094, BM564135
      UniProtKB/TrEMBL
      B7Z7F0
      Conserved Domains (1) summary
      cd05658
      Location:36 → 445
      M18_DAP; M18 peptidase aspartyl aminopeptidase

    3. NM_001319118.2 → NP_001306047.1  aspartyl aminopeptidase isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
      Source sequence(s)
      AC053503, AK301919, BI821651, DA398660
      Consensus CDS
      CCDS86923.1
      UniProtKB/TrEMBL
      A0A024R481, E5RIA4, Q53SB6
      Conserved Domains (1) summary
      cd05658
      Location:14 → 459
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase

    4. NM_001319119.2 → NP_001306048.1  aspartyl aminopeptidase isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
      Source sequence(s)
      AC053503, AK301919, BX403948, DA203030
      Consensus CDS
      CCDS86923.1
      UniProtKB/TrEMBL
      A0A024R481, E5RIA4, Q53SB6
      Related
      ENSP00000429468.2, ENST00000520694.6
      Conserved Domains (1) summary
      cd05658
      Location:14 → 459
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase

    5. NM_001319120.2 → NP_001306049.1  aspartyl aminopeptidase isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC053503, AK001777, AK301919, BI256589, DA203030
      UniProtKB/TrEMBL
      Q53SB6
      Conserved Domains (1) summary
      cd05658
      Location:28 → 437
      M18_DAP; M18 peptidase aspartyl aminopeptidase

    6. NM_001319121.2 → NP_001306050.1  aspartyl aminopeptidase isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and uses an alternate splice junction compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform a. Variants 7 and 8 both encode the same isoform (f).
      Source sequence(s)
      AC053503, BC003040
      UniProtKB/TrEMBL
      E7EMB6
      Related
      ENSP00000363083.1, ENST00000373972.5
      Conserved Domains (1) summary
      cd05658
      Location:2 → 420
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase

    7. NM_001319122.2 → NP_001306051.1  aspartyl aminopeptidase isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence and uses an alternate splice junction compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform a. Variants 7 and 8 both encode the same isoform (f).
      Source sequence(s)
      AC053503, AK301919, AL519865
      UniProtKB/TrEMBL
      E7EMB6
      Conserved Domains (1) summary
      cd05658
      Location:2 → 420
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase

    8. NM_012100.4 → NP_036232.2  aspartyl aminopeptidase isoform c

      See identical proteins and their annotated locations for NP_036232.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC053503, AK001777, DA203030
      Consensus CDS
      CCDS42823.1
      UniProtKB/Swiss-Prot
      Q9BW44, Q9NUV5, Q9NV55, Q9ULA0
      UniProtKB/TrEMBL
      Q53SB6
      Related
      ENSP00000273075.4, ENST00000273075.9
      Conserved Domains (1) summary
      cd05658
      Location:28 → 473
      M18_DAP; M18 peptidase aspartyl aminopeptidase

    RNA

    1. NR_134970.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' end and lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)
      Source sequence(s)
      AC053503, AK301919, CN356162, DA203030

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219372043..219400007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219856797..219884804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULA0.2 GenPept UniProtKB/Swiss-Prot:Q9ULA0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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