NLN neurolysin [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 5q12.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (65722205..65829283)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (66543992..66651091)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (65018032..65125111)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis of divergent substrate recognition and inhibition of human neurolysin.
Title: Structural basis of divergent substrate recognition and inhibition of human neurolysin.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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 EBI GWAS CatalogPubMed

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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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

NLN__6061 (e-PCR)
- UniSTS:463638

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

1076 (e-PCR)
- UniSTS:52537

RH102512 (e-PCR)
- UniSTS:96846

RH48357 (e-PCR)
- UniSTS:3922

D5S514E (e-PCR)
- UniSTS:16731

RH68646 (e-PCR)
- UniSTS:48226

D10S16 (e-PCR)
- UniSTS:155756

G35510 (e-PCR)
- UniSTS:44150

G20238 (e-PCR)
- UniSTS:60279

A005B09 (e-PCR)
- UniSTS:60280

AL010026 (e-PCR)
- UniSTS:40322

SHGC-36641 (e-PCR)
- UniSTS:17804

D5S1656E (e-PCR)
- UniSTS:51619

L18441 (e-PCR)
- UniSTS:71348

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 mitochondrion	HTP more info	PubMed
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

EC 3.4.24.16

XP_005248616.1

EC 3.4.24.16

XP_047273399.1

EC 3.4.24.16

XP_047273400.1

EC 3.4.24.16

XP_047273401.1

EC 3.4.24.16

XP_054208976.1

EC 3.4.24.16

XP_054208977.1

EC 3.4.24.16

XP_054208978.1

EC 3.4.24.16

XP_054208979.1

EC 3.4.24.16

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

65722205..65829283

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q9BQD0
XM_047417444.1 → XP_047273400.1 neurolysin, mitochondrial isoform X2

UniProtKB/TrEMBL

A8K9T8
XM_047417443.1 → XP_047273399.1 neurolysin, mitochondrial isoform X2

UniProtKB/TrEMBL

A8K9T8

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

66543992..66651091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K9T8
XM_054353004.1 → XP_054208979.1 neurolysin, mitochondrial isoform X3

UniProtKB/TrEMBL

Q9BQD0
XM_054353003.1 → XP_054208978.1 neurolysin, mitochondrial isoform X2

UniProtKB/TrEMBL

A8K9T8
XM_054353002.1 → XP_054208977.1 neurolysin, mitochondrial isoform X2

UniProtKB/TrEMBL

A8K9T8