NRDC nardilysin convertase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NRDCprovided by HGNC
Official Full Name: nardilysin convertaseprovided by HGNC
Primary source: HGNC:HGNC:7995
See related: Ensembl:ENSG00000078618 MIM:602651; AllianceGenome:HGNC:7995
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: NRD1; hNRD1; hNRD2
Summary: This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Expression: Ubiquitous expression in testis (RPKM 55.2), skin (RPKM 27.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (51789210..51878727, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (51669503..51759610, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (52254882..52344399, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

CircNRD1 elevates THAP domain containing 11 through sequestering microRNA-421 to inhibit gastric cancer growth and tumorigenesis.
Title: CircNRD1 elevates THAP domain containing 11 through sequestering microRNA-421 to inhibit gastric cancer growth and tumorigenesis.
Altered Levels of Negative Costimulatory Molecule V-Set Domain-Containing T-Cell Activation Inhibitor-1 (VTCN1) and Metalloprotease Nardilysin (NRD1) are Associated with Generalized Active Vitiligo.
Title: Altered Levels of Negative Costimulatory Molecule V-Set Domain-Containing T-Cell Activation Inhibitor-1 (VTCN1) and Metalloprotease Nardilysin (NRD1) are Associated with Generalized Active Vitiligo.
Increased serum nardilysin at admission is associated with a higher risk of all-cause mortality for ST-elevation myocardial infarction patients.
Title: Increased serum nardilysin is associated with worse long-term outcome of ST-elevation myocardial infarction.
NRDC expression was reduced in infarcted regions in autopsy samples from acute myocardial ischemia patients.
Title: Nardilysin is a promising biomarker for the early diagnosis of acute coronary syndrome.
Gene expression level of NRD1 is significantly higher in AD patients when compared to normal controls.
Title: Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.
MRNA expression of NRD1 was upregulated in 56% of ESCC tissue samples.
Title: NRD1, which encodes nardilysin protein, promotes esophageal cancer cell invasion through induction of MMP2 and MMP3 expression.
This study demonistrated that alcohol-dependent reduction of nardilysin in cell culture and nervous tissue points to an implication of the enzyme in the pathophysiology of alcoholism.
Title: Decreased expression of nardilysin in SH-SY5Y cells under ethanol stress and reduced density of nardilysin-expressing neurons in brains of alcoholics.
possible roles of nardilysin in Alzheimer disease, Down syndrome, schizophrenia, mood disorders, alcohol abuse, heroin addiction and cancer; show that nardilysin is a Janus-faced enzyme with regard to brain pathology-- probably neuropathogenic in some diseases, but neuroprotective in others [review]
Title: Nardilysin in human brain diseases: both friend and foe.
SH-SY5Y cells, stably transfected with green fluorescent protein-tagged-p42(IP4) show enhanced NRD protein expression already at an earlier time point after retinoic acid stimulation.
Title: Retinoic acid-induced upregulation of the metalloendopeptidase nardilysin is accelerated by co-expression of the brain-specific protein p42(IP4) (centaurin α 1; ADAP1) in neuroblastoma cells.
NRD1 interacts with p53 mutant R273H
Title: Mutant p53 interactome identifies nardilysin as a p53R273H-specific binding partner that promotes invasion.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, nardilysin (N-arginine dibasic convertase) (NRD1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with NRD1 is decreased by RRE	PubMed
Vif	vif	HIV-1 Vif interacts with NRDC; interaction predicted to be relevant to proteolysis	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

SHGC-79752 (e-PCR)
- UniSTS:96007

G32416 (e-PCR)
- UniSTS:117003

A009C22 (e-PCR)
- UniSTS:35886

RH123564 (e-PCR)
- UniSTS:135984

RH11811 (e-PCR)
- UniSTS:80221

D1S3636 (e-PCR)
- UniSTS:473949

SHGC-74810 (e-PCR)
- UniSTS:54917

HSC20B072 (e-PCR)
- UniSTS:75940

SHGC-64045 (e-PCR)
- UniSTS:60610

SHGC-147508 (e-PCR)
- UniSTS:175850

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables epidermal growth factor binding	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nardilysin

Names: NRD convertase; nardilysin (N-arginine dibasic convertase)

NP_001095132.1

EC 3.4.24.61

NP_001229290.1

EC 3.4.24.61

NP_002516.2

EC 3.4.24.61

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.

Genomic

NG_029171.2 RefSeqGene

Range

5211..94728

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001101662.2 → NP_001095132.1 nardilysin isoform b precursor

See identical proteins and their annotated locations for NP_001095132.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AY360265, BC008775, DA245717, X93209

Consensus CDS

CCDS41335.1

UniProtKB/Swiss-Prot

A6NI41, O15241, O15242, O43847, Q5VUL0, Q96HB2, Q9NU57

UniProtKB/TrEMBL

B4DRI0

Related

ENSP00000262679.8, ENST00000352171.12

Conserved Domains (1) summary

cl25708
Location:103 → 1089

Peptidase_M16; Insulinase (Peptidase family M16)
NM_001242361.2 → NP_001229290.1 nardilysin isoform c

See identical proteins and their annotated locations for NP_001229290.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AY360265, BC008775, DB084774

Consensus CDS

CCDS55599.1

UniProtKB/TrEMBL

G3V1R5, Q6UUU9

Related

ENSP00000444416.1, ENST00000539524.5

Conserved Domains (1) summary

cl25708
Location:147 → 1025

Peptidase_M16; Insulinase (Peptidase family M16)
NM_002525.3 → NP_002516.2 nardilysin isoform a

See identical proteins and their annotated locations for NP_002516.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AY360265, BC008775, DA245717, X93207

Consensus CDS

CCDS559.1

UniProtKB/TrEMBL

Q6UUU9

Related

ENSP00000346890.7, ENST00000354831.11

Conserved Domains (4) summary

COG1025
Location:279 → 1157

Ptr; Secreted/periplasmic Zn-dependent peptidases, insulinase-like [Posttranslational modification, protein turnover, chaperones]

pfam00675
Location:279 → 405

Peptidase_M16; Insulinase (Peptidase family M16)

pfam05193
Location:430 → 616

Peptidase_M16_C; Peptidase M16 inactive domain

pfam16187
Location:621 → 902

Peptidase_M16_M; Middle or third domain of peptidase_M16