MMEL1 (membrane metalloendopeptidase like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79258
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane metalloendopeptidase like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMEL1
Synonyms (NCBI Gene) Gene synonyms aliases
MMEL2, NEP2, NEPII, NL1, NL2, SEP
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.32
Summary Summary 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618104 14668 ENSG00000142606
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis. Weakly expressed in brain, kidney and heart. {ECO:0000269|PubMed:11560781}.
Sequence
Sequence length 779
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases 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
View all (10 more)
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)		 24076602, 22190364, 21833088
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 21150878 ClinVar
Celiac disease Celiac Disease, Celiac disease 20190752, 23143596, 22057235, 26546613 ClinVar, GWAS
Cirrhosis Cirrhosis ClinVar
Sclerosing Cholangitis Sclerosing Cholangitis GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Inhibit 22008264
Arthritis Rheumatoid Associate 20187130, 23460240, 28925718
Celiac Disease Associate 26843707
Cholangitis Sclerosing Associate 22521342
Cognition Disorders Associate 22008264
Cognitive Dysfunction Associate 22008264
Colitis Ulcerative Associate 36111848
Glioblastoma Associate 38182643
Hypothyroidism Associate 40727246
Liver Cirrhosis Biliary Associate 20639879