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MMEL1 (membrane metalloendopeptidase like 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79258
Gene nameGene Name - the full gene name approved by the HGNC.
Membrane metalloendopeptidase like 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MMEL1
SynonymsGene synonyms aliases
MMEL2, NEP2, NEPII, NL1, NL2, SEP
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.32
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. Thi
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018444 hsa-miR-335-5p Microarray 18185580
MIRT1153028 hsa-miR-1225-3p CLIP-seq
MIRT1153029 hsa-miR-1233 CLIP-seq
MIRT1153030 hsa-miR-3656 CLIP-seq
MIRT2454273 hsa-miR-22 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 18539150
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0005615 Component Extracellular space IDA 18539150
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006508 Process Proteolysis IDA 18539150
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q495T6
Protein name Membrane metallo-endopeptidase-like 1 (EC 3.4.24.11) (Membrane metallo-endopeptidase-like 2) (NEP2(m)) (Neprilysin II) (NEPII) (Neprilysin-2) (NEP2) (NL2) [Cleaved into: Membrane metallo-endopeptidase-like 1, soluble form (Neprilysin-2 secreted) (NEP2(s))
Protein function Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05649 Peptidase_M13_N
111 511
Peptidase family M13
Family
PF01431 Peptidase_M13
572 778
Peptidase family M13
Family
Sequence
Sequence length 779
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 21150878
Autoimmune diseases Autoimmune Diseases rs41285370, rs869025224 21383967
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 31407831
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Unknown
Disease name Disease term dbSNP ID References
Biliary cholangitis Primary biliary cholangitis, Secondary Biliary Cholangitis 20639879
Biliary cirrhosis Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis 20639879
Celiac disease Celiac Disease rs2305764, rs35218876 20190752, 23143596, 22057235, 26546613
Cholangitis Cholangitis, Sclerosing 27992413, 23603763

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