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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MMEL1 Gene

protein-coding   GIFtS: 53
GCID: GC01M002557

Membrane Metallo-Endopeptidase-Like 1

(Previous name: membrane metallo-endopeptidase-like 2)
(Previous symbol: MMEL2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Membrane Metallo-Endopeptidase-Like 11 2     NL12
Membrane Metallo-Endopeptidase-Like 21 2 3     SEP2
MMEL21 2 3     neprilysin-22
Neprilysin II2 3     Soluble Secreted Endopeptidase2
NEP22 3     Zinc Metallopeptidase2
NEP2(m)2 3     MELL13
NEPII2 3     Neprilysin-23
NL22 3     EC 3.4.248
EC 3.4.24.113 8     

External Ids:    HGNC: 146681   Entrez Gene: 792582   Ensembl: ENSG000001426067   UniProtKB: Q495T63   

Export aliases for MMEL1 gene to outside databases

Previous GC identifers: GC00U990694 GC01M001803


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 geotrichosis, and autonomic dysfunction. GO annotations related to this gene include metalloendopeptidase activity and zinc ion binding. An important paralog of this gene is PHEX.

UniProtKB/Swiss-Prot: MMEL1_HUMAN, Q495T6
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MMEL1 gene promoter:
         AREB6   GR   GR-beta   ZID   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMEL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MMEL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MMEL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36

MMEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMEL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M002557:  view genomic region     (about GC identifiers)

Start:
2,522,078 bp from pter      End:
2,564,481 bp from pter
Size:
42,404 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MMEL1_HUMAN, Q495T6 (See protein sequence)
Recommended Name: Membrane metallo-endopeptidase-like 1  
Size: 779 amino acids; 89367 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Membrane; Single-pass type II membrane protein. Secreted. Note=A secreted form produced by
proteollytic cleavage also exists (By similarity)
Sequence caution: Sequence=AAI01028.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI01031.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL08942.1;
Type=Frameshift; Positions=7, 8;
Secondary accessions: B9DI79 Q495T7 Q495T8 Q5SZS6 Q96PH9
Alternative splicing: 3 isoforms:  Q495T6-1   Q495T6-2   Q495T6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MMEL1: NX_Q495T6

Explore proteomics data for MMEL1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q495T6

  • 4/7 DME Specific Peptides for MMEL1 (Q495T6) (see all 7)
     FPAGILQ  AVVNAFYS  SIKTDVHSP  FACGGWLRRH 

    MMEL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MMEL1 Protein Expression
    REFSEQ proteins: NP_258428.2  
    ENSEMBL proteins: 
     ENSP00000461938   ENSP00000367668   ENSP00000422492   ENSP00000425477   ENSP00000288709  

    Human Recombinant Protein Products for MMEL1: 
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    Novus Biologicals MMEL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    MMEL1 for ontologies           About GeneDecksing



    MMEL1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for MMEL1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR024079 MetalloPept_cat_dom
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C
     IPR008753 Peptidase_M13_N

    Graphical View of Domain Structure for InterPro Entry Q495T6

    ProtoNet protein and cluster: Q495T6

    2 Blocks protein domains:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: MMEL1_HUMAN, Q495T6
    Similarity: Belongs to the peptidase M13 family


    MMEL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMEL1_HUMAN, Q495T6
    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)
    Catalytic activity: Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or
    Tyr at P1'
    Enzyme regulation: Inhibited by thiorphan and phosphoramidon (By similarity)

         Enzyme Numbers (IUBMB): EC 3.4.24.111 2 EC 3.4.242

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    MMEL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MMEL1:
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mmel1):
     reproductive system 

    MMEL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mmel1tm1Ldg for MMEL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MMEL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MMEL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MMEL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MMEL1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MMEL1:
    hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidMMEL1 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of MMEL1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMEL1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MMEL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1A-beta Plaque Formation & APP Metabolism
    A-beta Plaque Formation & APP Metabolism
    2A-beta Uptake & Degradation
    A-beta Uptake & Degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for MMEL1
        A-beta Uptake & Degradation
    A-beta Plaque Formation & APP Metabolism



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MMEL1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    MMEL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MMEL1

    Search CenterWatch for drugs/clinical trials and news about MMEL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MMEL1 gene: 
    NM_033467.3  

    Unigene Cluster for MMEL1:

    Membrane metallo-endopeptidase-like 1
    Hs.591453  [show with all ESTs]
    Unigene Representative Sequence: NM_033467
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471840 ENST00000378412 ENST00000502556 ENST00000504800 ENST00000491941
    ENST00000464195 ENST00000469962 ENST00000509374 ENST00000511099 ENST00000288709(uc009vlg.1 uc001ajy.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MMEL1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MMEL1:
    hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidMMEL1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MMEL1 (NM_033467)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MMEL1
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                         Customized lentivirus expression plasmids for stable overexpression of MMEL1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MMEL1

    Additional mRNA sequence: 

    AF336981.1 AK093058.1 BC101027.2 BC101028.1 BC101030.1 

    5 DOTS entries:

    DT.95111945  DT.97826519  DT.121368257  DT.121368320  DT.95259912 

    24 AceView cDNA sequences:

    CA405847 AW372628 NM_033467 AX747891 AF336981 BF446399 BF437289 CD369886 
    BM853146 AK093058 CD637785 AI262100 BI823929 BI907511 BG991637 BI828288 
    BQ636494 AW373220 AW845925 AW749924 AW749935 CD637787 AW393029 AW577304 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MMEL1    About this scheme

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


    ECgene alternative splicing isoforms for MMEL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MMEL1 expression in normal human tissues (normalized intensities)      MMEL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAGCCTGC
    MMEL1 Expression
    About this image


    MMEL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle

    See MMEL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MMEL1

    SOURCE GeneReport for Unigene cluster: Hs.591453

    UniProtKB/Swiss-Prot: MMEL1_HUMAN, Q495T6
    Tissue specificity: Predominantly expressed in testis. Weakly expressed in brain, kidney and heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMEL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MMEL1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmel11 , 5 membrane metallo-endopeptidase-like 11, 5 81.18(n)1
    78.56(a)1
      4 (85.54 cM)5
    273901  NM_013783.21  NP_038811.21 
     1548695855 
    chicken
    (Gallus gallus)
    Aves MMEL11 membrane metallo-endopeptidase-like 1 67.87(n)
    68.99(a)
      770671  XM_001233076.2  XP_001233077.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.135452 Transcribed sequence with weak similarity to protein more 71.95(n)    BX730705.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mmel11 membrane metallo-endopeptidase-like 1 64.5(n)
    61.54(a)
      560703  XM_684099.3  XP_689191.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nep41 Neprilysin 4 54.34(n)
    41.95(a)
      42449  NM_142647.2  NP_650904.3 
    worm
    (Caenorhabditis elegans)
    Secernentea nep-21 Protein NEP-2 49.26(n)
    39.56(a)
      188090  NM_061942.2  NP_494343.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MMEL1 gene
    PHEX2  MME2  KEL2  ECE22  ECE12  ECEL12  
    5 SIMAP similar genes for MMEL1 using alignment to 2 protein entries:     MMEL1_HUMAN (see all proteins):
    MME    ECE2    ECE1    PHEX    ECEL1

    MMEL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1054 SNPs in MMEL1 are shown (see all 1054)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57720701,2
    C,F--2523661(+) CCCTCG/-GGGGG 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1424464111,2
    C--2523696(+) GCACAC/GCACCT 1 -- int10--------
    rs8674351,2
    C,A--2523706(+) TGTCCC/TGAATG 1 -- int15Minor allele frequency- T:0.49CSA WA NA EA 361
    rs8674361,2
    C,F,A,H--2523723(+) TGACGT/CCCCCT 1 -- int1 trp317Minor allele frequency- C:0.50NS EA NA CSA WA 2213
    rs1122186521,2
    C,F--2523744(+) ACTGGC/TGCCCC 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs1999133691,2
    C--2523770(+) CTGAT-/CCCCCC 1 -- int10--------
    rs1923494271,2
    --2523807(+) CCCTGA/CTGTGC 1 -- int10--------
    rs1824641811,2
    --2523810(+) TGCTGC/TGCTGG 1 -- int10--------
    rs1877861741,2
    --2523811(+) GCTGTA/GCTGGC 1 -- int10--------
    rs1400731571,2
    C--2523818(+) TGGCAC/TCCCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MMEL1 (2522078 - 2564481 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for MMEL1 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2719917CNV Deletion23290073
    esv2719806CNV Deletion23290073
    esv2719695CNV Deletion23290073
    dgv75n71CNV Loss21882294
    dgv71n71CNV Loss21882294
    dgv85n71CNV Loss21882294
    nsv870655CNV Loss21882294
    nsv871726CNV Loss21882294
    nsv470684CNV Loss18288195
    nsv870979CNV Loss21882294


    Human Gene Mutation Database (HGMD): MMEL1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MMEL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MMEL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    15 diseases for MMEL1:    About MalaCards
    geotrichosis    autonomic dysfunction    hirschsprung disease cardiac defects and autonomic dysfunction    hirschsprung's disease
    wegener's granulomatosis    primary biliary cirrhosis    celiac disease    azoospermia
    multiple sclerosis    pneumonia    tuberculosis    rheumatoid arthritis
    arthritis    alzheimer's disease    neuronitis


    MMEL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MMEL1
    Human Genome Epidemiology (HuGE) Navigator: MMEL1 (9 documents)

    Export disorders for MMEL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MMEL1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with MMEL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11560781)1, 2, 9 Bonvouloir N.... DesGroseillers L. (2001)
    2. Genetic variants in the prediction of rheumatoid arth ritis. (PubMed id 20439292)1, 4 van der Helm-van Mil A.H....Huizinga T.W. (2010)
    3. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    4. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associ ated with primary biliary cirrhosis. (PubMed id 20639879)1, 4 Hirschfield G.M....Siminovitch K.A. (2010)
    5. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. (PubMed id 19674979)1, 4 Hinks A....Packham J. (2010)
    6. Multiple common variants for celiac disease influenci ng immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (2010)
    7. Genome-wide association study meta-analysis identifie s seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (2010)
    8. A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. (PubMed id 20049410)1, 4 Wieczorek S....Epplen J.T. (2010)
    9. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. (PubMed id 18794853)1, 4 Raychaudhuri S....Plenge R.M. (2008)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79258 HGNC: 14668 AceView: MMEL2 Ensembl:ENSG00000142606 euGenes: HUgn79258
    ECgene: MMEL1 H-InvDB: MMEL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MMEL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MMEL1 gene:
    Search GeneIP for patents involving MMEL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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