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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
24076602, 22190364, 21833088 |
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
23143596, 30423114, 24449572, 18794853, 24532676, 31407831, 26546613 |
|
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 |
Cirrhosis |
Cirrhosis |
rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 |
|
Conjugated hyperbilirubinemia |
Conjugated hyperbilirubinemia |
|
|
Dermatographic urticaria |
Dermatographic urticaria |
|
|
Gastrointestinal inflammation |
Gastrointestinal inflammation |
|
|
Graves disease |
Graves Disease |
|
22922229 |
Hypoalbuminemia |
Hypoalbuminemia |
|
|
Immune system diseases |
Immune System Diseases |
|
21383967 |
Liver carcinoma |
Liver carcinoma |
|
|
Liver fibrosis |
Fibrosis, Liver |
|
|
Portal hypertension |
Portal Hypertension |
|
|
Sclerosing cholangitis |
Primary sclerosing cholangitis |
|
22521342, 23603763 |
|
|
|
| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412 |