Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT2454274	hsa-miR-3130-3p	CLIP-seq

Show/Hide all(15)

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
GO:0005886	Component	Plasma membrane	IBA
GO:0006508	Process	Proteolysis	IDA	18539150
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IDA	18539150
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
618104	14668	ENSG00000142606

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

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

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Celiac disease	Celiac disease	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS
Sclerosing Cholangitis	Primary sclerosing cholangitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Metabolic Syndrome	Associate	34003736
Multiple Sclerosis	Associate	20574445, 24727690, 36991503

MMEL1 (membrane metalloendopeptidase like 1)