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    NPEPL1 aminopeptidase like 1 [ Homo sapiens (human) ]

    Gene ID: 79716, updated on 27-Nov-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 peptidase activity. Predicted to be involved in proteolysis. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 17.5), spleen (RPKM 15.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPEPL1 in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58689131..58715844)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60471191..60498449)
    RS_2024_09 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 (23) 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)

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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

    Gene LinkOut

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

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