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NLN neurolysin [ Homo sapiens (human) ]

Gene ID: 57486, updated on 3-Apr-2024

Summary

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Official Symbol
NLNprovided by HGNC
Official Full Name
neurolysinprovided by HGNC
Primary source
HGNC:HGNC:16058
See related
Ensembl:ENSG00000123213 MIM:611530; AllianceGenome:HGNC:16058
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
MEP; MOP; AGTBP; EP24.16
Summary
This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in liver (RPKM 3.9), brain (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See NLN in Genome Data Viewer
Location:
5q12.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (65722205..65829283)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (66543992..66651091)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65018032..65125111)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22608 Neighboring gene RNA, U6 small nuclear 540, pseudogene Neighboring gene tripartite motif containing 23 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:64934876-64935323 Neighboring gene trafficking protein particle complex subunit 13 Neighboring gene shieldin complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22609 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65015266-65015462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16056 Neighboring gene small glutamine rich tetratricopeptide repeat co-chaperone beta Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65018623-65019444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16059 Neighboring gene PRAME family member 17 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:65220503-65221127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65221752-65222376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22612 Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene small nucleolar RNA SNORA76 Neighboring gene erbb2 interacting protein

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. The mitochondrial peptidase, neurolysin, regulates respiratory chain supercomplex formation and is necessary for AML viability. Mirali S, et al. Sci Transl Med, 2020 Apr 8. PMID 32269163
  2. Mechanism of Peptide Binding and Cleavage by the Human Mitochondrial Peptidase Neurolysin. Teixeira PF, et al. J Mol Biol, 2018 Feb 2. PMID 29183787
  3. Confocal microscopy reveals thimet oligopeptidase (EC 3.4.24.15) and neurolysin (EC 3.4.24.16) in the classical secretory pathway. Garrido PA, et al. DNA Cell Biol, 1999 Apr. PMID 10235115
  4. Neuropeptide specificity and inhibition of recombinant isoforms of the endopeptidase 3.4.24.16 family: comparison with the related recombinant endopeptidase 3.4.24.15. Rioli V, et al. Biochem Biophys Res Commun, 1998 Sep 8. PMID 9735321
  5. Characterization and localization of mitochondrial oligopeptidase (MOP) (EC 3.4.24.16) activity in the human cervical adenocarcinoma cell line HeLa. Krause DR, et al. J Cell Biochem, 1997 Sep 1. PMID 9257187

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The mitochondrial peptidase, neurolysin, regulates respiratory chain supercomplex formation and is necessary for AML viability.
    Title: The mitochondrial peptidase, neurolysin, regulates respiratory chain supercomplex formation and is necessary for AML viability.
  2. The crystal structure of human neurolysin(E475Q) in complex with the products of neurotensin cleavage at 2.7A revealed a closed conformation with an internal cavity that restricts substrate length and highlighted the mechanism of enzyme opening/closing that is necessary for substrate binding and catalytic activity.
    Title: Mechanism of Peptide Binding and Cleavage by the Human Mitochondrial Peptidase Neurolysin.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Mutations at only two residues (Arg-470 and Arg-498) are required to swap specificity with thimet oligopeptidase, a result that is confirmed by testing the two-mutant constructs.
    Title: Swapping the substrate specificities of the neuropeptidases neurolysin and thimet oligopeptidase.
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
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of neurolysin (NLN) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • FLJ23002, KIAA1226, DKFZp564F123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
  
enables peptide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
involved_in peptide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of skeletal muscle fiber differentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neurolysin, mitochondrial
Names
angiotensin binding protein
endopeptidase 24.16
microsomal endopeptidase
mitochondrial oligopeptidase M
neurolysin (metallopeptidase M3 family)
neurotensin endopeptidase
NP_065777.1
XP_005248616.1
XP_047273399.1
XP_047273400.1
XP_047273401.1
XP_054208976.1
XP_054208977.1
XP_054208978.1
XP_054208979.1

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_020726.5 → NP_065777.1  neurolysin, mitochondrial

    See identical proteins and their annotated locations for NP_065777.1

    Status: REVIEWED

    Source sequence(s)
    AC016643, AJ300837, CA441264, CB992921
    Consensus CDS
    CCDS3989.1
    UniProtKB/Swiss-Prot
    Q9BYT8, Q9ULJ4
    UniProtKB/TrEMBL
    A8K9T8
    Related
    ENSP00000370372.5, ENST00000380985.10
    Conserved Domains (2) summary
    cd06455
    Location:58 → 699
    M3A_TOP; Peptidase M3 Thimet oligopeptidase (TOP) also includes neurolysin
    COG0339
    Location:54 → 701
    Dcp; Zn-dependent oligopeptidase [Posttranslational modification, protein turnover, chaperones]

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    65722205..65829283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248559.4 → XP_005248616.1  neurolysin, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005248616.1

    UniProtKB/TrEMBL
    A8K9T8
    Conserved Domains (2) summary
    cd06455
    Location:58 → 681
    M3A_TOP; Peptidase M3 Thimet oligopeptidase (TOP) also includes neurolysin
    COG0339
    Location:54 → 683
    Dcp; Zn-dependent oligopeptidase [Posttranslational modification, protein turnover, chaperones]

  2. XM_047417445.1 → XP_047273401.1  neurolysin, mitochondrial isoform X3

  3. XM_047417444.1 → XP_047273400.1  neurolysin, mitochondrial isoform X2

  4. XM_047417443.1 → XP_047273399.1  neurolysin, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    66543992..66651091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353001.1 → XP_054208976.1  neurolysin, mitochondrial isoform X1

  2. XM_054353004.1 → XP_054208979.1  neurolysin, mitochondrial isoform X3

  3. XM_054353003.1 → XP_054208978.1  neurolysin, mitochondrial isoform X2

  4. XM_054353002.1 → XP_054208977.1  neurolysin, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYT8.1 GenPept UniProtKB/Swiss-Prot:Q9BYT8

Gene LinkOut

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