MMEL1 (membrane metalloendopeptidase like 1)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 79258
Gene name Membrane metalloendopeptidase like 1
Gene symbol MMEL1
Synonyms (NCBI Gene)
MMEL2NEP2NEPIINL1NL2SEP
Chromosome 1
Chromosome location 1p36.32
Summary 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.
6 Show/Hide all (6)
Download as csvDownload as pdf
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 18539150
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 18539150
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
618104 14668 ENSG00000142606
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF01431 Peptidase_M13 572 → 778 Peptidase family M13 Family
PF05649 Peptidase_M13_N 111 → 511 Peptidase family M13 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis. Weakly expressed in brain, kidney and heart. {ECO:0000269|PubMed:11560781}.
Sequence 
MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLAS
RLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAARILQNMDPTTEPCDDFYQFAC
GGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSV
IEKRGSQPLLDILEVVGGWPVAMDRWNETVGLEWELERQLALMNSQFNRRVLIDLFIWND
DQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQFMVSVATLLREDANLPRDSCL
VQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFNWTLFIQTVLS
SVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLVWRLVLDRIGSLSQRFKDTRV
NYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFV
ETLDELGWMDEESKKKAQEKAMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENS
LQNLKVGAQRSLRKLREKVDPNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQ
ALNFGGIGMVIGHEITHGFDDNGRNFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSW
DLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGKDQQLPGLDLTHEQLFFINYA
QVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW
Sequence length 779
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Download as csvDownload as pdf
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)
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.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ARTHRITIS, RHEUMATOID — CTD 23143596
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30572963
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 22922229
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS — GWAS catalog 34033851
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE — GWAS catalog 20190752, 22057235, 26546613, 30572963
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (73)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22008264 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 20941644
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20187130, 23460240, 28925718 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21150878
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASDB_DG 21383967
★★★★★
★☆☆☆☆
Found in Text Mining only
Becker Muscular Dystrophy Becker Muscular Dystrophy BEFREE 9077508
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis CTD_human_DG 20639879
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Cirrhosis, Primary, 1 Biliary cirrhosis CTD_human_DG 20639879
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28657175
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
CD226 5 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Biliary cirrhosis, Biliary cholangitis, Sclerosing cholangitis 5 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis), GWAS catalog (Sclerosing cholangitis) Related via 5 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. TNFSF15 6 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Biliary cirrhosis, Celiac disease, Biliary cholangitis, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Biliary cirrhosis), GWAS catalog (Celiac disease), Orphanet (Biliary cholangitis), GWAS catalog (Biliary cholangitis), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. GPR35 4 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 4 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. CCL21 3 shared diseasesAutoimmune disease, Celiac disease, Sclerosing cholangitis 4 shared evidence sourcesCTD (Rheumatoid arthritis), GWAS catalog (Autoimmune disease), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Autoimmune disease, Celiac disease — evidence mostly GWAS catalog. SPIB 3 shared diseasesBiliary cirrhosis, Liver cirrhosis, Biliary cholangitis 4 shared evidence sourcesGWAS catalog (Biliary cirrhosis), CTD (Liver cirrhosis), Orphanet (Biliary cholangitis), GWAS catalog (Biliary cholangitis) Related via 3 shared diseases including Biliary cirrhosis, Liver cirrhosis — evidence mostly GWAS catalog.
Ankylosing spondylitis Linked via 4 of 5 related genesCD226, TNFSF15, GPR35, CCL21 Crohn disease Linked via 4 of 5 related genesCD226, TNFSF15, GPR35, CCL21 Psoriasis Linked via 4 of 5 related genesCD226, TNFSF15, GPR35, CCL21 Ulcerative colitis Linked via 4 of 5 related genesCD226, TNFSF15, GPR35, CCL21 Inflammatory bowel disease Linked via 3 of 5 related genesCD226, TNFSF15, GPR35