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NPEPL1 aminopeptidase like 1 [ Homo sapiens (human) ]

Gene ID: 79716, updated on 5-Mar-2024

Summary

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Official Symbol
NPEPL1provided by HGNC
Official Full Name
aminopeptidase like 1provided by HGNC
Primary source
HGNC:HGNC:16244
See related
Ensembl:ENSG00000215440 AllianceGenome:HGNC:16244
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
bA261P9.2
Summary
Predicted to enable manganese ion binding activity and metalloaminopeptidase activity. Predicted to be involved in proteolysis. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 17.5), spleen (RPKM 15.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.32
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58689131..58715844)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60471191..60498449)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57264187..57290900)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985410 Neighboring gene Sharpr-MPRA regulatory region 5631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57223531-57224068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13074 Neighboring gene STX16-NPEPL1 readthrough (NMD candidate) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:57227205-57227708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:57236323-57236822 Neighboring gene syntaxin 16 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57244387-57245042 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57245043-57245700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57245701-57246356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57250883-57251408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57251409-57251933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57267289-57267994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57269435-57270042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57276557-57277089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57277090-57277621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57290235-57291042 Neighboring gene uncharacterized LOC124904942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57320681-57321180 Neighboring gene piezo type mechanosensitive ion channel component 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57327629-57328292 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:57328293-57328958 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:57328959-57329622

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. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  2. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
  3. N-Terminomics for the Identification of In Vitro Substrates and Cleavage Site Specificity of the SARS-CoV-2 Main Protease. Koudelka T, et al. Proteomics, 2021 Jan. PMID 33111431, Free PMC Article
  4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  5. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of aminopeptidase-like 1 (NPEPL1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough STX16-NPEPL1

Readthrough gene: STX16-NPEPL1, Included gene: STX16

Homology

Clone Names

  • FLJ11583, FLJ42065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables manganese ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloaminopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
probable aminopeptidase NPEPL1

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_001204872.2 → NP_001191801.1  probable aminopeptidase NPEPL1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK307771, AL139349, BC020507, BP232534
    Consensus CDS
    CCDS56200.1
    UniProtKB/TrEMBL
    B2RDV2
    Related
    ENSP00000434810.1, ENST00000525967.5
    Conserved Domains (1) summary
    cd00433
    Location:13 → 459
    Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...

  2. NM_001204873.2 → NP_001191802.1  probable aminopeptidase NPEPL1 isoform 3

    See identical proteins and their annotated locations for NP_001191802.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK297667, AL139349, BC020507, BP232534
    Consensus CDS
    CCDS56201.1
    UniProtKB/TrEMBL
    B2RDV2
    Related
    ENSP00000437112.1, ENST00000525817.5
    Conserved Domains (1) summary
    cd00433
    Location:6 → 439
    Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...

  3. NM_024663.4 → NP_078939.3  probable aminopeptidase NPEPL1 isoform 1

    See identical proteins and their annotated locations for NP_078939.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL139349, BC020507, BM544905
    Consensus CDS
    CCDS46621.1
    UniProtKB/Swiss-Prot
    A6NGZ0, B4DMW7, B7ZBN0, E9PN47, G5EA34, Q53G37, Q5W083, Q8NDH3, Q8TF28, Q8WUI2, Q9H1T6, Q9HAI5
    Related
    ENSP00000348395.6, ENST00000356091.11
    Conserved Domains (1) summary
    cd00433
    Location:35 → 487
    Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    58689131..58715844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    60471191..60498449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDH3.3 GenPept UniProtKB/Swiss-Prot:Q8NDH3

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