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    MMEL1 membrane metalloendopeptidase like 1 [ Homo sapiens (human) ]

    Gene ID: 79258, updated on 12-Oct-2019

    Summary

    Official Symbol
    MMEL1provided by HGNC
    Official Full Name
    membrane metalloendopeptidase like 1provided by HGNC
    Primary source
    HGNC:HGNC:14668
    See related
    Ensembl:ENSG00000142606 MIM:618104
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NL1; NL2; SEP; NEP2; MMEL2; NEPII
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 6.2), small intestine (RPKM 3.4) and 21 other tissues See more
    Orthologs

    Genomic context

    See MMEL1 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2590639..2633042, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2522078..2564499, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNFRSF14 antisense RNA 1 Neighboring gene uncharacterized LOC100996583 Neighboring gene TNF receptor superfamily member 14 Neighboring gene peroxiredoxin like 2B Neighboring gene MMEL1 antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 34 Neighboring gene uncharacterized LOC105378603 Neighboring gene uncharacterized LOC105378602

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
    NHGRI GWA Catalog
    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    NHGRI GWA Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    NHGRI GWA Catalog
    Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • MGC119454, MGC119455, MGC119456

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    membrane metallo-endopeptidase-like 1
    Names
    NEP2(m)
    membrane metallo-endopeptidase-like 2
    neprilysin II
    neprilysin-2
    soluble secreted endopeptidase
    zinc metallopeptidase
    NP_258428.2
    XP_011540424.1
    XP_016857799.1
    XP_016857800.1
    XP_016857801.1
    XP_016857802.1
    XP_016857803.1
    XP_016857804.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_033467.4NP_258428.2  membrane metallo-endopeptidase-like 1

      See identical proteins and their annotated locations for NP_258428.2

      Status: REVIEWED

      Source sequence(s)
      AF336981, AK093058, AL139246, BC101027, DB089501
      Consensus CDS
      CCDS30569.2
      UniProtKB/Swiss-Prot
      Q495T6
      UniProtKB/TrEMBL
      B3KS82
      Related
      ENSP00000367668.3, ENST00000378412.8
      Conserved Domains (2) summary
      cd08662
      Location:111777
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:102779
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      2590639..2633042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002311.1XP_016857800.1  membrane metallo-endopeptidase-like 1 isoform X2

    2. XM_017002314.1XP_016857803.1  membrane metallo-endopeptidase-like 1 isoform X5

    3. XM_017002313.1XP_016857802.1  membrane metallo-endopeptidase-like 1 isoform X4

    4. XM_017002312.1XP_016857801.1  membrane metallo-endopeptidase-like 1 isoform X3

    5. XM_017002310.1XP_016857799.1  membrane metallo-endopeptidase-like 1 isoform X1

      UniProtKB/Swiss-Prot
      Q495T6
      Conserved Domains (2) summary
      cd08662
      Location:111777
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:102779
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    6. XM_017002315.1XP_016857804.1  membrane metallo-endopeptidase-like 1 isoform X6

    7. XM_011542122.2XP_011540424.1  membrane metallo-endopeptidase-like 1 isoform X7

      See identical proteins and their annotated locations for XP_011540424.1

      Conserved Domains (1) summary
      cd08662
      Location:1520
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

    RNA

    1. XR_001737402.1 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187515.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      141829..184203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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