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Aliases for MMEL1 Gene

Aliases for MMEL1 Gene

  • Membrane Metallo-Endopeptidase-Like 1 2 3 5
  • Membrane Metallo-Endopeptidase-Like 2 2 3 4
  • Neprilysin II 3 4
  • Neprilysin-2 3 4
  • EC 3.4.24.11 4 63
  • NEP2(M) 3 4
  • MMEL2 3 4
  • NEPII 3 4
  • NEP2 3 4
  • NL2 3 4
  • Soluble Secreted Endopeptidase 3
  • Zinc Metallopeptidase 3
  • EC 3.4.24 63
  • MELL1 4
  • NL1 3
  • SEP 3

External Ids for MMEL1 Gene

Previous HGNC Symbols for MMEL1 Gene

  • MMEL2

Previous GeneCards Identifiers for MMEL1 Gene

  • GC00U990694
  • GC01M002557
  • GC01M001803

Summaries for MMEL1 Gene

Entrez Gene Summary for MMEL1 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. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMEL1 Gene

MMEL1 (Membrane Metallo-Endopeptidase-Like 1) is a Protein Coding gene. Diseases associated with MMEL1 include primary biliary cirrhosis. Among its related pathways are A-beta Pathways: Uptake and Degradation and A-beta Pathways: Plaque Formation and APP Metabolism. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is MME.

UniProtKB/Swiss-Prot for MMEL1 Gene

  • 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 bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMEL1 Gene

Genomics for MMEL1 Gene

Regulatory Elements for MMEL1 Gene

Genomic Location for MMEL1 Gene

Chromosome:
1
Start:
2,590,639 bp from pter
End:
2,633,042 bp from pter
Size:
42,404 bases
Orientation:
Minus strand

Genomic View for MMEL1 Gene

Genes around MMEL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMEL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMEL1 Gene

Proteins for MMEL1 Gene

  • Protein details for MMEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q495T6-MMEL1_HUMAN
    Recommended name:
    Membrane metallo-endopeptidase-like 1
    Protein Accession:
    Q495T6
    Secondary Accessions:
    • B9DI79
    • Q495T7
    • Q495T8
    • Q5SZS6
    • Q96PH9

    Protein attributes for MMEL1 Gene

    Size:
    779 amino acids
    Molecular mass:
    89367 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI01028.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI01031.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL08942.1; Type=Frameshift; Positions=7, 8; Evidence={ECO:0000305};

    Alternative splice isoforms for MMEL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MMEL1 Gene

Proteomics data for MMEL1 Gene at MOPED

Selected DME Specific Peptides for MMEL1 Gene

Post-translational modifications for MMEL1 Gene

Other Protein References for MMEL1 Gene

Antibody Products

  • R&D Systems Antibodies for MMEL1 (Neprilysin-2/MMEL1)

Domains & Families for MMEL1 Gene

Suggested Antigen Peptide Sequences for MMEL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q495T6

UniProtKB/Swiss-Prot:

MMEL1_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with MMEL1: view

No data available for Gene Families for MMEL1 Gene

Function for MMEL1 Gene

Molecular function for MMEL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by thiorphan and phosphoramidon.
UniProtKB/Swiss-Prot 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 bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity).

Enzyme Numbers (IUBMB) for MMEL1 Gene

genes like me logo Genes that share phenotypes with MMEL1: view

Animal Models for MMEL1 Gene

MGI Knock Outs for MMEL1:

Animal Model Products

miRNA for MMEL1 Gene

miRTarBase miRNAs that target MMEL1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MMEL1 Gene

Localization for MMEL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMEL1 Gene

Membrane; Single-pass type II membrane protein. Secreted. Note=A secreted form produced by proteollytic cleavage also exists. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMEL1 Gene COMPARTMENTS Subcellular localization image for MMEL1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 3
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for MMEL1 Gene

Pathways & Interactions for MMEL1 Gene

genes like me logo Genes that share pathways with MMEL1: view

Pathways by source for MMEL1 Gene

Interacting Proteins for MMEL1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000367668%0d%0a9606.ENSP00000284981%0d%0a9606.ENSP00000263574%0d%0a9606.ENSP00000320866%0d%0a
Selected Interacting proteins: ENSP00000367668 for MMEL1 Gene via STRING

Gene Ontology (GO) - Biological Process for MMEL1 Gene

None

No data available for SIGNOR curated interactions for MMEL1 Gene

Drugs & Compounds for MMEL1 Gene

(1) Drugs for MMEL1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Racecadotril Pharma 5

(1) ApexBio Compounds for MMEL1 Gene

Compound Action Cas Number
Racecadotril 81110-73-8
genes like me logo Genes that share compounds with MMEL1: view

Drug Products

Transcripts for MMEL1 Gene

Unigene Clusters for MMEL1 Gene

Membrane metallo-endopeptidase-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMEL1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b
SP1: -
SP2: -
SP3:
SP4: -

Relevant External Links for MMEL1 Gene

GeneLoc Exon Structure for
MMEL1
ECgene alternative splicing isoforms for
MMEL1

Expression for MMEL1 Gene

mRNA expression in normal human tissues for MMEL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMEL1 Gene

This gene is overexpressed in Testis (x23.0).

SOURCE GeneReport for Unigene cluster for MMEL1 Gene Hs.591453

mRNA Expression by UniProt/SwissProt for MMEL1 Gene

Q495T6-MMEL1_HUMAN
Tissue specificity: Predominantly expressed in testis. Weakly expressed in brain, kidney and heart.
genes like me logo Genes that share expression patterns with MMEL1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MMEL1 Gene

Orthologs for MMEL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMEL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia MMEL1 35
  • 86.78 (n)
  • 86.01 (a)
MMEL1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmel1 35
  • 81.18 (n)
  • 78.17 (a)
mouse
(Mus musculus)
Mammalia Mmel1 16
Mmel1 36
  • 78 (a)
OneToOne
Mmel1 35
  • 81.18 (n)
  • 78.43 (a)
cow
(Bos Taurus)
Mammalia MMEL1 36
  • 84 (a)
OneToOne
MMEL1 35
  • 86.14 (n)
  • 84.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MMEL1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MMEL1 36
  • 99 (a)
OneToOne
MMEL1 35
  • 96.87 (n)
  • 96.14 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MMEL1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMEL1 35
  • 67.46 (n)
  • 68.39 (a)
MMEL1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmel1 35
  • 65.37 (n)
  • 66.71 (a)
Str.13545 35
zebrafish
(Danio rerio)
Actinopterygii MMEL1 36
  • 61 (a)
OneToOne
mmel1 35
  • 64.14 (n)
  • 61.13 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003106 35
  • 55.72 (n)
  • 43.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nep4 35
  • 54.34 (n)
  • 41.95 (a)
Nep1 36
  • 36 (a)
ManyToMany
Nep2 36
  • 36 (a)
ManyToMany
Nep4 36
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nep-2 35
  • 49.41 (n)
  • 40 (a)
nep-1 36
  • 32 (a)
ManyToMany
nep-11 36
  • 32 (a)
ManyToMany
nep-2 36
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for MMEL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMEL1 Gene

ENSEMBL:
Gene Tree for MMEL1 (if available)
TreeFam:
Gene Tree for MMEL1 (if available)

Paralogs for MMEL1 Gene

Paralogs for MMEL1 Gene

(6) SIMAP similar genes for MMEL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MMEL1: view

Variants for MMEL1 Gene

Sequence variations from dbSNP and Humsavar for MMEL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3748816 - 2,595,307(-) GGAGA(C/T)GAACA nc-transcript-variant, reference, missense
rs745367 -- 2,593,018(-) GGGCC(A/G)GGCAC intron-variant
rs745368 -- 2,592,766(-) GGAGA(A/G)GGAAG intron-variant, nc-transcript-variant
rs867435 -- 2,592,267(+) TGTCC(C/T)GAATG intron-variant
rs867436 -- 2,592,284(+) TGACG(C/T)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMEL1 Gene

Variant ID Type Subtype PubMed ID
dgv71n71 CNV Loss 21882294
dgv75n71 CNV Loss 21882294
nsv470684 CNV Loss 18288195
nsv871726 CNV Loss 21882294
nsv870655 CNV Loss 21882294
nsv7171 OTHER Inversion 18451855
nsv829648 CNV Loss 17160897
nsv871833 CNV Loss 21882294
nsv870979 CNV Loss 21882294
dgv85n71 CNV Loss 21882294
esv2719695 CNV Deletion 23290073
esv2719806 CNV Deletion 23290073
esv2719917 CNV Deletion 23290073
nsv428399 CNV Gain 18775914

Variation tolerance for MMEL1 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMEL1 Gene

HapMap Linkage Disequilibrium report
MMEL1
Human Gene Mutation Database (HGMD)
MMEL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMEL1 Gene

Disorders for MMEL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MMEL1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary biliary cirrhosis
  • biliary liver cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search MMEL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MMEL1

Genetic Association Database (GAD)
MMEL1
Human Genome Epidemiology (HuGE) Navigator
MMEL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMEL1
genes like me logo Genes that share disorders with MMEL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MMEL1 Gene

Publications for MMEL1 Gene

  1. Molecular cloning, tissue distribution, and chromosomal localization of MMEL2, a gene coding for a novel human member of the neutral endopeptidase-24.11 family. (PMID: 11560781) Bonvouloir N. … DesGroseillers L. (DNA Cell Biol. 2001) 3 4 23 67
  2. Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. (PMID: 24449572) Orozco G. … Eyre S. ( 2014) 3
  3. Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease. (PMID: 22008264) Huang J.Y. … Marr R.A. (J. Alzheimers Dis. 2012) 3
  4. Genetic analysis of genes involved in amyloid-I^ degradation and clearance in Alzheimer's disease. (PMID: 22027013) Natunen T. … Hiltunen M. (J. Alzheimers Dis. 2012) 3
  5. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. (PMID: 22197933) Hu Z. … Sha J. (Nat. Genet. 2012) 3

Products for MMEL1 Gene

Sources for MMEL1 Gene

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