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FLASH GENE
Symbol HM13 contributors: mct - updated : 02-12-2021
HGNC name histocompatibility (minor) 13
HGNC id 16435
Location 20q11.21      Physical location : 30.102.240 - 30.157.368
Synonym name
  • signal peptide peptidase
  • presenilin-like protein 3
  • intramembrane protease
  • minor histocompatibility antigen 13
  • Synonym symbol(s) H13, SPP, IMP1, PSL3, IMPAS, PSENL3, dJ324O17.1,
    EC.number 3.4.99.-/ 3.4.23.-
    DNA
    TYPE functioning gene
    STRUCTURE 55.13 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 1604 41 377 - 2017 28198167
  • 12 exons
  • 13 splicing 1807 43 394 - 2017 28198167
  • 13 exons
  • containing an alternate exon compared to variant 1 causing a frameshift
  • 13 splicing 1751 46 426 - 2017 28198167
  • 13 exons
  • containing an alternate in-frame exon compared to variant 1
  • 3 splicing 2011 15 143 - 2017 28198167
  • 3 exons
  • containing an alternate segment compared to variant 1 causing a frameshift
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     intestinelarge intestinecolon moderately
     liver   moderately
     stomach   highly
    Endocrineadrenal gland   moderately
     pancreas   highly
     parathyroid   moderately
    Lymphoid/Immunelymph node   moderately
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
     female systemovary  predominantly
     female systemplacenta  moderately
     male systemprostate  moderately
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region is sufficient for the tetrameric assembly
  • seven putative transmembrane region
  • four potential N glycosylation sites
  • YD and LGLD aspartic protease motifs
  • ER retrieval signal KKXX
  • secondary structure
    conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus H13 (95.8pc)
    ortholog to murine H13 (96pc)
    Homologene
    FAMILY
  • peptidase A22B family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases
    basic FUNCTION
  • catalyzing intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm
  • required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides
  • may play a role in graft rejection
  • may be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein
  • plays important roles in cell signaling, surveillance, regulation, cell intracellular communication, and cancer
  • atypical aspartic protease that hydrolyzes peptide bonds within the transmembrane domain of substrates and is implicated in several biological and pathological functions
  • could facilitate the growth of surrounding tumor cells by affecting the expression of secretory proteins and promoting the progression of the entire tumor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homotetramer is the functional unit of HM13 and its N-terminal region, which works as the structural scaffold, has a novel modulatory function for the intramembrane-cleaving activity of HM13
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HM13 was required for dislocation of TGFB1 from the endoplasmic reticulum
  • cell & other
    REGULATION
    inhibited by helical peptidomimetics (Sato 2006)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in high&8208;grade gliomas, and associated with a decreased survival period in patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker may be a potential diagnostic biomarker for glioblastoma
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    therapeutic target for glioblastoma
    ANIMAL & CELL MODELS