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FLASH GENE
Symbol MTUS1 contributors: mct/npt - updated : 07-10-2009
HGNC name mitochondrial tumor suppressor 1
HGNC id 29789
Location 8p22      Physical location : 17.501.303 - 17.658.426
Synonym name
  • angiotensin II AT2 receptor interacting protein (ATIP)/mitochondrial tumor suppressor
  • erythroid differentiation-related
  • transcription factor MTSG1
  • AT2 receptor-interacting protein
  • Synonym symbol(s) ATIP, MP44, MTSG1, FLJ14295, KIAA1288, DKFZp586D1519, GK1, ATIP1, DKFZp686F20243
    DNA
    TYPE functioning gene
    STRUCTURE 157.12 kb     15 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing 6391 141 1270 brain, liver, major transcript in tissues (prostate, bladder, breast, ovary, colon) corresponding to cancer types with frequent loss of heterozygosity at 8p22 Di Benedetto, Franck (2007)
  • a nuclear localization signal
  • potential deleterious effects on ATIP3 function and/or expression in hepatocellular carcinoma
  • 14 splicing 6229 135 1216 skeletal muscle Di Benedetto, Franck (2007)
  • lacking an in-frame exon in the coding region compared to variant 1 (lacking an internal segment)
  • 10 splicing 6452 84 770 uterus Di Benedetto, Franck (2007)
  • a nuclear localization signal
  • having an additional exon in the coding region including a stop codon (resulting in early translation termination compared to variant 1)
  • also called ATIP2
  • 12 splicing 4022 58 517 fetal brain, brain-specific transcript highly abundant in the cerebellum and fetal brain Di Benedetto, Franck (2007)
  • a membrane spanning domain
  • lacking several 5' exons but having an alternate 5' exon compared to variant 1
  • also called ATIP4
  • - splicing 3738 50 436 mitochondrial protein, ubiquitous and highly expressed in the brain Di Benedetto, Franck (2007)
  • lacking multiple 5' exons but having an alternate 5' exon compared to variant 1
  • acting as a tumor suppressor
  • partcipating in AT2 signaling pathways
  • also called ATIP1
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
    Endocrinethyroid   moderately
    Nervousbrain   predominantly
    Reproductivefemale systemuterus  moderately
     female systemplacenta  predominantly
     female systemovary  moderately
     female systembreast  moderately
     male systemprostate  moderately
    Respiratorylung   moderately
     respiratory tracttrachea  moderately
    Urinarybladder   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to chimpanzee MTUS1 (95,75 pc)
    homolog to rattus Mtus1 (54.82 pc)
    homolog to murine Mtus1 (65.92 pc)
    Homologene
    FAMILY
  • MTUS1 family
  • CATEGORY signaling , receptor
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • controling cellular proliferation (mitochondrial protein)
  • may be involved in a variety of intracellular functions in an AT2-dependent and independent manner
  • important biological roles for this new family of proteins in tumor suppression and/or brain function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • a novel early component of growth inhibitory signaling cascade
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in primary ovarian carcinoma compared with controls (ovarian tissues and cysts)
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate tumor suppressor genes for HNSCC (head and neck squamous cell carcinoma) (Ye 2007)
    Marker
    Therapy target
    ANIMAL & CELL MODELS