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

MMEL1 Gene

protein-coding   GIFtS: 51
GCID: GC01M002557

membrane metallo-endopeptidase-like 1

(Previous name: membrane metallo-endopeptidase-like 2 )
(Previous symbol: MMEL2)
 Explore 14 diseases affiliated with
MMEL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MMEL1    

Aliases
for MMEL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Membrane Metallo-Endopeptidase-Like 11 2     NEP2(M)1
Membrane Metallo-Endopeptidase-Like 21 2 3     EC 3.4.24.113 8
MMEL21 2 3     Neprilysin-23
NEPII1 2 3     Soluble Secreted Endopeptidase2
NL21 2 3     Zinc Metallopeptidase2
NL11 2     MELL13
SEP1 2     Neprilysin-23
Neprilysin II2 3     EC 3.4.248
NEP22 3     

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

Export aliases for MMEL1 gene to outside databases

Previous GC identifers: GC00U990694 GC01M001803


Summaries
for MMEL1 gene

(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:
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)

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)




Genomic Views
for MMEL1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004350.19  
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 plasmid: MMEL1 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

Proteins
for MMEL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • N-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals MMEL1 Protein
    Novus Biologicals MMEL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MMEL1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016021integral to membrane IEA--


    MMEL1 for ontologies           About GeneDecksing



    MMEL1 Antibody Products: 
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    Uscn Antibodies for MMEL1
    Search ThermoFisher Antibodies for MMEL1

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    Uscn ELISAs and CLIAs for MMEL1

    Protein Domains /
    Families
    for MMEL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MMEL1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


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


    Function
    for MMEL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    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 plasmid: MMEL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MMEL1 (see all 7)
    OriGene shRNA RFP: MMEL1
    OriGene siRNA: MMEL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MMEL1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MMEL1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MMEL1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MMEL1 (NM_033467)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMEL1 

    Cell Line
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    Search LifeMap BioReagents cell lines for MMEL1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMEL1

    Gene Ontology (GO): 3 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--
    GO:0046872metal ion binding ----


    MMEL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MMEL1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Mmel1tm1Ldg for MMEL1
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Mmel1):
     reproductive system 

    MMEL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MMEL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1A-beta Uptake & Degradation
    		A-beta Uptake & Degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for MMEL1
        A-beta Uptake & Degradation



    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



    Drugs & Compounds
    for MMEL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for MMEL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: MMEL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MMEL1 (see all 7)
    OriGene shRNA RFP: MMEL1
    OriGene siRNA: MMEL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MMEL1
    Clone
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    GenScript: all cDNA clones in your preferred vector: MMEL1 (NM_033467)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MMEL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MMEL1

    Additional cDNA 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 NM_033467 CD369886 AW372628 AF336981 AX747891 AK093058 BF446399 
    BM853146 BF437289 BI823929 AI262100 CD637785 AW373220 BQ636494 BI907511 
    BG991637 BI828288 AW749924 AW845925 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

    Expression
    for MMEL1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAAGCCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MMEL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FollicleGranulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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:     
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    Orthologs
    for MMEL1 gene

    (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 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    for MMEL1 gene

    (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



    Genomic Variants
    for MMEL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/853 NCBI SNPs in MMEL1 are shown (see all 853)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs413156781,2
    		F,--2521668(+) ACTGTG/AGGTTC 9 -- nc-transcript-variantut31 ds50013Minor allele frequency- A:0.04NA 124
    rs1894802631,2
    		--2521680(+) TGTGGG/TTCTCC 9 -- ds5001 ut31 nc-transcript-variant0--------
    rs1807222271,2
    		--2521846(+) CCGGTG/TCCCCA 9 -- ds5001 ut31 nc-transcript-variant0--------
    rs1477043471,2
    		--2521916(+) GTCACC/TGCTGG 9 -- ut31 ds5001 nc-transcript-variant0--------
    rs1438265131,2
    		--2521988(+) TGTCA-/CTCT  
                CTCCC     		9 -- ds5001 ut31 nc-transcript-variant0--------
    rs1845644361,2
    		--2521990(+) TCACTC/GTCTCC 9 -- nc-transcript-variantut31 ds50010--------
    rs1892799891,2
    		--2522132(+) AGACAA/GTGCAC 9 -- ut31 nc-transcript-variant0--------
    rs8816401,2
    		C,A,--2522204(+) CCCGCG/TGNNNN 9 -- nc-transcript-variantut31 ese36Minor allele frequency- T:0.19MN NA EA 1924
    rs1812394801,2
    		--2522223(+) GGGGCC/TCCGGT 9 -- nc-transcript-variantut310--------
    rs1424439821,2
    		--2522356(+) TCGCCA/GCTAGC 9 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for MMEL1 (2522078 - 2564481 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MMEL1
         2 CNVs: 29820 29817
         2 Inversions: 37096 37097
    Human Gene Mutation Database (HGMD): MMEL1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MMEL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MMEL1

    Disorders / Diseases
    for MMEL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MMEL1 for disorders           About GeneDecksing

    14 diseases for MMEL1:    About MalaCards
    hirschsprung disease, cardiac defects, and autonomic dysfunction    autonomic dysfunction    geotrichosis    wegener's granulomatosis
    primary biliary cirrhosis    hirschsprung's disease    celiac disease    rheumatoid arthritis
    multiple sclerosis    arthritis    pneumonia    tuberculosis
    neuronitis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: MMEL1 (9 documents)

    Export disorders for MMEL1 gene to outside databases

    Publications
    for MMEL1 gene

    (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 27):
    (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. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Genetic analysis of genes involved in amyloid-b degrad ation and clearance in Alzheimer's disease. (PubMed id 22027013)1 Natunen T....Hiltunen M. (2012)
    5. Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease. (PubMed id 22008264)1 Huang J.Y....Marr R.A. (2012)
    6. A genome-wide association study in Chinese men identif ies three risk loci for non-obstructive azoospermia. (PubMed id 22197933)1 Hu Z....Sha J. (2012)
    7. Association of variants in MMEL1 and CTLA4 with rheum atoid arthritis in the Han Chinese population. (PubMed id 21784728)1 Danoy P....Xu H. (2011)
    8. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    9. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
    10. Genetic variants in the prediction of rheumatoid arth ritis. (PubMed id 20439292)1 van der Helm-van Mil A.H....Huizinga T.W. (2010)

    External Searches for MMEL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing MMEL1 gene

    (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

    Other Databases showing MMEL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MMEL1 gene

    (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

    Intellectual Property
    for MMEL1 gene

    (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:
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