NRDC (nardilysin convertase)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 4898
Gene name Nardilysin convertase
Gene symbol NRDC
Synonyms (NCBI Gene)
NRD1hNRD1hNRD2
Chromosome 1
Chromosome location 1p32.3
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity NAS 9581555
GO:0005515 Function Protein binding IPI 18355445, 22653443
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IDA 28017472
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602651 7995 ENSG00000078618
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43847
Protein name Nardilysin (EC 3.4.24.61) (N-arginine dibasic convertase) (NRD convertase) (NRD-C) (Nardilysin convertase)
Protein function Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs. Is a critical activator of BACE1- and ADAM17-mediated pro-neuregulin ectodomain shedding, involved in the positive regulation of axonal maturation and myelinatio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00675 Peptidase_M16 199 → 337 Insulinase (Peptidase family M16) Family
PF05193 Peptidase_M16_C 362 → 548 Peptidase M16 inactive domain Domain
PF16187 Peptidase_M16_M 553 → 834 Middle or third domain of peptidase_M16 Family
PF05193 Peptidase_M16_C 838 → 1021 Peptidase M16 inactive domain Domain
Tissue specificity TISSUE SPECIFICITY: Primarily in adult heart, skeletal muscle, and testis and at much lower levels in other tissues.
Sequence 
MLRRVTVAAVCATRRKLCEAGRELAALWGIETRGRCEDSAAARPFPILAMPGRNKAKSTC
SCPDLQPNGQDLGENSRVARLGADESEEEGRRGSLSNAGDPEIVKSPSDPKQYRYIKLQN
GLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFDDEDEFDD
EHDDDLDTEDNELEELEERAEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVF
MGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMI
RDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNI
DTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPF
DTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKK
CWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKR
IFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALN
QLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAEN
KYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAA
NVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDY
LAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLS
LESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELP
SGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGY
HVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTA
LIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGS
KMLSVHVVGYGKYELEEDGTPSSEDSNSSCEVMQLTYLPTSPLLADCIIPITDIRAFTTT
LNLLPYHKIVK
Sequence length 1151
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 28747015, 30536341
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina, Unstable Intermediate coronary syndrome BEFREE 28747015
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21769958
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21769958
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 30871973
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30871973
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29669932
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29669932
★★★★★
★☆☆☆☆
Found in Text Mining only
Ductal Carcinoma Ductal Carcinoma BEFREE 21769958
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 24168165, 28207963
★★★★★
★☆☆☆☆
Found in Text Mining only