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DNPEP aspartyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 23549, updated on 7-Jun-2020

Summary

Official Symbol
DNPEPprovided by HGNC
Official Full Name
aspartyl aminopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:2981
See related
Ensembl:ENSG00000123992 MIM:611367
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

Genomic context

See DNPEP in Genome Data Viewer
Location:
2q35
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219372043..219400007, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220238180..220264730, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985835 Neighboring gene uncharacterized LOC105373883 Neighboring gene uncharacterized LOC105373884 Neighboring gene desmin locus control region Neighboring gene desmin Neighboring gene VISTA enhancer hs2169

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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, ENST00000523282.5
    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
    A0A024R442, B7Z7F0
    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
    A0A024R442, B7Z7F0
    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/Swiss-Prot
    Q9ULA0
    UniProtKB/TrEMBL
    B7Z7F0
    Conserved Domains (1) summary
    cd05658
    Location:28437
    M18_DAP; M18 Peptidase Aspartyl aminopeptidase
  6. NM_001319121.1NP_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
    A0A024R443
    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
    A0A024R443, B7Z7F0
    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
    Q9ULA0
    Related
    ENSP00000273075.4, ENST00000273075.8
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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