Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HM13 contributors: npt/ - updated : 03-03-2010
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.-
    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
    Physical map
    LOC391241 20 similar to Soggy-1 protein precursor (SGY-1) LOC149935 20q11.21 similar to CDK5 regulatory subunit associated protein 3; CDK5 activator-binding protein C53; ischemic heart CDK5 activator-binding protein C53 RPL31P3 20p11-q11 ribosomal protein L31 pseudogene 3 DEFB118 20q11.1-q11.22 defensin, beta 118 DEFB119 20q11.1 defensin, beta 119 DEFB123 20q11.1 defensin, beta 123 REM 20q11.1 RAS (RAD and GEM)-like GTP-binding LOC388794 20 similar to dJ1093G12.6 (A novel protein) HM13 20q11.21 histocompatibility (minor) 13 ID1 20q11 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein COX4I2 20q11.21 cytochrome c oxidase subunit IV isoform 2 BCL2L1 20q11.1 BCL2-like 1 TPX2 20q11.2 TPX2, microtubule-associated protein homolog (Xenopus laevis) MYLK2 20q13.31 myosin light chain kinase 2, skeletal muscle FKHL18 20q11.1-q11.2 forkhead-like 18 (Drosophila) DUSP15 20 dual specificity phosphatase-like 15 LOC164395 20q11.21 hypothetical protein LOC164395 C20orf126 20q11.21 chromosome 20 open reading frame 126 LOC343702 20q11.21 similar to dJ310O13.4 (novel protein similar to predicted C. elegans and C. intestinalis proteins) C20orf160 20q11.2 chromosome 20 open reading frame 160 HCK 20q11.21 hemopoietic cell kinase TM9SF4 20q11.21 transmembrane 9 superfamily protein member 4 RPL24P1 20q11 ribosomal protein L24 pseudogene 1 TSPYL3 20q11.1 TSPY-like 3 PLAGL2 20q11.1 pleiomorphic adenoma gene-like 2 POFUT1 20q11 protein O-fucosyltransferase 1 KIF3B 20p11.2-q11.21 kinesin family member 3B ASXL1 20q11 additional sex combs like 1 (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 1604 41 377 - -
  • 12 exons
  • 13 splicing 1807 43 394 - -
  • 13 exons
  • containing an alternate exon compared to variant 1 causing a frameshift
  • 13 splicing 1751 46 426 - -
  • 13 exons
  • containing an alternate in-frame exon compared to variant 1
  • 3 splicing 2011 15 143 - -
  • 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
  • seven putative transmembrane region
  • four potential N glycosylation sites
  • YD and LGLD aspartic protease motifs
  • ER retrieval signal KKXX
  • 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     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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by helical peptidomimetics (Sato 2006)
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS