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DNPEP aspartyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 23549, updated on 11-Apr-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
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Genomic context

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Location:
2q35
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219372043..219400007, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219856797..219884804, complement)
105.20220307 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. 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
  2. Identification and characterization of novel inhibitors of Mammalian aspartyl aminopeptidase. Chen Y, et al. Mol Pharmacol, 2014 Aug. PMID 24913940, Free PMC Article
  3. Clinical impact of aspartyl aminopeptidase expression and activity in colorectal cancer. Larrinaga G, et al. Transl Res, 2013 Nov. PMID 23948443
  4. 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
  5. 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

See all (55) 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)

Genotypes

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 TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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, ENST00000523282.5
    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_2023_10

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

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