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Aliases for MMEL1 Gene

Aliases for MMEL1 Gene

  • Membrane Metallo-Endopeptidase-Like 1 2 3
  • 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 Uptake and Degradation and A-beta 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    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

Domains 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 :
  • Q495T6
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

Gene Ontology (GO) - Molecular Function for MMEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MMEL1: view

Phenotypes for MMEL1 Gene

MGI mutant phenotypes for MMEL1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MMEL1:
genes like me logo Genes that share phenotypes with MMEL1: view

Animal Models for MMEL1 Gene

MGI Knock Outs for MMEL1:

miRNA for MMEL1 Gene

miRTarBase miRNAs that target MMEL1

No data available for Transcription Factor Targeting 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
plasma membrane 3
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MMEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MMEL1: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with MMEL1: view

Compounds for MMEL1 Gene

No Compound Related Data Available

Transcripts for MMEL1 Gene

Unigene Clusters for MMEL1 Gene

Membrane metallo-endopeptidase-like 1:
Representative Sequences:

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 (23.0).

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 expressions with MMEL1: view

No data available for Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia MMEL1 35
  • 96.87 (n)
  • 96.14 (a)
MMEL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMEL1 35
  • 86.14 (n)
  • 84.21 (a)
MMEL1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMEL1 35
  • 86.78 (n)
  • 86.01 (a)
MMEL1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmel1 35
  • 81.18 (n)
  • 78.43 (a)
Mmel1 16
Mmel1 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMEL1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMEL1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmel1 35
  • 81.18 (n)
  • 78.17 (a)
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 35
  • 64.14 (n)
  • 61.13 (a)
MMEL1 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003106 35
  • 55.72 (n)
  • 43.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nep1 36
  • 36 (a)
ManyToMany
Nep2 36
  • 36 (a)
ManyToMany
Nep4 35
  • 54.34 (n)
  • 41.95 (a)
Nep4 36
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nep-1 36
  • 32 (a)
ManyToMany
nep-11 36
  • 32 (a)
ManyToMany
nep-2 35
  • 49.41 (n)
  • 40 (a)
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

Selected 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 MAF
rs745367 -- 2,593,018(-) GGGCC(A/G)GGCAC intron-variant
rs745368 -- 2,592,766(-) GGAGA(A/G)GGAAG intron-variant
rs867435 -- 2,592,267(+) TGTCC(C/T)GAATG intron-variant
rs867436 -- 2,592,284(+) TGACG(C/T)CCCCT intron-variant
rs1555790 -- 2,593,046(-) GGAGC(A/G)GCCAG 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

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

MalaCards: The human disease database. (1) Diseases for MMEL1 Gene including...

Search for MMEL1 Gene in MalaCards »

Relevant External Links for MMEL1

Genetic Association Database (GAD)
MMEL1
Human Genome Epidemiology (HuGE) Navigator
MMEL1
genes like me logo Genes that share disorders with MMEL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 48
  5. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. (PMID: 20639879) Hirschfield G.M. … Siminovitch K.A. (Nat. Genet. 2010) 3 48

Products for MMEL1 Gene

Sources for MMEL1 Gene

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