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    DNPEP aspartyl aminopeptidase [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001319116.2NP_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:36481
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase
    2. NM_001319117.2NP_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:36445
      M18_DAP; M18 peptidase aspartyl aminopeptidase
    3. NM_001319118.2NP_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:14459
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase
    4. NM_001319119.2NP_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:14459
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase
    5. NM_001319120.2NP_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:28437
      M18_DAP; M18 peptidase aspartyl aminopeptidase
    6. NM_001319121.2NP_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:2420
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase
    7. NM_001319122.2NP_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:2420
      M18_DAP; M18 Peptidase Aspartyl aminopeptidase
    8. NM_012100.4NP_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:28473
      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)