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FLASH GENE
Symbol MTRNR2L1 contributors: mct - updated : 29-12-2017
HGNC name MT-RNR2-like 1
HGNC id 37155
Location 17p11.2      Physical location : 22.022.436 - 22.023.990
Synonym name
  • humanin 1
  • Synonym symbol(s) HN1, HN
    DNA
    TYPE functioning gene
    STRUCTURE 1.55 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1555 - 24 - 2009 19477263
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Nervousbrain     Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Reproductivespermatid Homo sapiens
    Reproductivespermatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion in ejaculated sperm
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    text
  • mainly localized in the midpiece of sperm in semen samples with normal morphology and in cytoplasmic residues and entire tail in those with abnormal morphology
  • also found in the cytoplasm and nucleus of spermatocytes and spermatids
  • colocalizes with VSTM2L in distinct brain areas
  • basic FUNCTION
  • protects neurons by binding to a complex or complexes involving CNTFR/IL27RA/IL6ST
  • inhibits neuronal cell death and dysfunction by binding to a novel IL6-receptor-related receptor(s) on the cell surface involving CNTFR, IL27RA, and IL6ST
  • has antiapoptotic properties, and may play an important role in preventing apoptosis in sperm and testis
  • may play a role and may have a protective effect in early atherosclerosis
  • plays a protective role through its antiapoptotic activity that interferes with BAX activation, which suppresses Bax-dependent apoptosis
  • suppress the JUN N-terminal kinase (JNK) and ASK/JNK-mediated neuronal cell death
  • may also protect against cognitive impairment due to ischemia/reperfusion injury
  • bioactive peptide that is likely to inhibit both neuronal death and dysfunction only related to Alzheimer disease (AD) by binding to a Humanin receptor on the cell-surface and by activating a STAT3-mediated signal, preventing the onset of dementia
  • displaying a protective activity against a range of cytotoxic and neurotoxic insults
  • protects cortical neurons from hypoxia/reperfusion (I/R) injury by the increased SOD1 activity and the protective effect of MTRNR2L1 on neurons against I/R is concentration-dependent
  • is a secreted bioactive peptide that suppresses cell toxicity caused by a variety of insults
  • short bioactive peptide, inhibiting a variety of cell deaths
  • binds to IGFBP3 and regulates its interaction with KPNB1
  • protected RPE cells from oxidative stress-induced cell death by STAT3 phosphorylation and inhibiting CASP3 activation
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • acts as a ligand for formyl peptide receptor-like 1 (FPRL1) and 2 (FPRL2)
  • C20orf102 (VSTM2L) interacts with MTRNR2L1
  • protein-protein interaction between MTRNR2L1 and SLC2A8 suggests that their interaction may fulfill a biologic role that requires interdependency
  • MTRNR2L1 increased the mRNA and protein expression of SH3BP5, which has been known to be a JNK interactor, in neuronal cells
  • expression of BIRC6 is upregulated by MTRNR2L1, and BIRC6 could be an effector of MTRNR2L1 in a context-dependent manner
  • counteracts IGFBP3-induced cell death
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    humanin signal is decreased in neurons of Alzheimer's disease patients
    constitutional     --low  
    decline with age could play a role in the pathogenesis of age-related diseases including AD and T2 diabetes mellitus
    constitutional     --over  
    in human IUGR-affected pregnancies on the maternal aspect of the placenta (extravillous trophoblastic (EVT) cytoplasm) compared to control
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    restoration or activation of the Humanin signal in neurons may change the course of AD
    neurosensorialvisualretina
    potential role for MTRNR2L1 therapy in the prevention of retinal degeneration, including AMD
    ANIMAL & CELL MODELS