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FLASH GENE
Symbol SEC63 contributors: mct - updated : 10-06-2011
HGNC name SEC63 homolog (S. cerevisiae)
HGNC id 21082
Corresponding disease
PCLD2 polycystic liver disease 2
Location 6q21      Physical location : 108.188.961 - 108.279.482
Synonym symbol(s) DNAJL, PRO2507, SEC63L, ERdj2
DNA
TYPE functioning gene
STRUCTURE 90.52 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
PRDM1 6q21-q22.1 PR domain containing 1, with ZNF domain APG5L 6q21 APG5 autophagy 5-like (S. cerevisiae) AIM1 6q21 absent in melanoma 1 RTN4IP1 6q21 reticulon 4 interacting protein 1 QRSL1 6q21 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 C6orf203 6q21 chromosome 6 open reading frame 203 KIAA1553 6q21 KIAA1553 C6orf210 6q21 chromosome 6 open reading frame 210 FLJ10159 6q21 hypothetical protein FLJ10159 SCML4 6q21 sex comb on midleg-like 4 (Drosophila) SEC63 6q21 SEC63-like (S. cerevisiae) LOC285752 6q21 similar to ribosomal protein L3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B OSTM1 6q21 osteopetrosis associated transmembrane protein 1 NR2E1 6q21 nuclear receptor subfamily 2, group E, member 1 SNX3 6q13-q22.3 sorting nexin 3 LACE1 6q22.1 lactation elevated 1 FOXO3A 6q21 forkhead box O3A LOC391958 6 similar to zinc finger protein 259; zinc finger protein ZPR1 ARMC2 6q21 armadillo repeat containing 2 SESN1 6q21 sestrin 1 C6orf182 6q21 chromosome 6 open reading frame 182 LOC389422 6 LOC389422 FLJ37396 6q21 hypothetical protein FLJ37396 C6orf184 6q21 chromosome 6 open reading frame 184 LOC345875 6q21 similar to ribosomal protein L7-like 1 C6orf185 6q21 chromosome 6 open reading frame 185 CD164 6q21 CD164 antigen, sialomucin PPIL6 6q21 peptidylprolyl isomerase (cyclophilin)-like 6 SMPD2 6q22.1 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) NICAL 6q21 NEDD9 interacting protein with calponin homology and LIM domains ZNF450 6q22.1 zinc finger protein 450
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 6500 - 760 - 2011 21251912
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Endocrinepancreas   highly
Hearing/Equilibriumearinnercochlea highly
Reproductivefemale systemuterus    Homo sapiens
Respiratoryrespiratory tractlarynx  predominantly
 respiratory tracttrachea  highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  moderately
Connectiveadipose  highly
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
Reproductiveepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text in fetal liver (
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • DnaJ domain
  • Sec63 domain
  • a conserved BRL (Brr2-like) domain in the C-terminal cytosolic region that is essential for function
  • HOMOLOGY
    interspecies homolog to rattus Sec63 (96.1 pc)
    homolog to murine Sec63 (96.1 pc)
    Homologene
    FAMILY
    CATEGORY chaperone/stress , receptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,nucleus
    text
  • integral membrane protein located in the rough ER
  • basic FUNCTION
  • performing post-translational protein translocation into the ER (Sec61-Sec62-Sec63 complex)
  • performing the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway (Sec61-Sec62-Sec63 complex)
  • acting as an endoplasmic reticulum receptor
  • key component of the protein translocation machinery in the mammalian endoplasmic reticulum (ER), and involved in the post-translation processing of secretory proteins
  • possible role for SEC63 in decidualization
  • PRKCSH and SEC63 function in protein translocation and quality control pathways in the endoplasmic reticulum
  • CELLULAR PROCESS protein, post translation, targeting
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text protein-membrane targeting
    PATHWAY
    metabolism
    signaling
    a component
  • component of the transmembrane complex mediating posttranslational translocation of nescent peptides across the ER
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding with SEC62 to ribosome-free SEC61 complex
  • binding to heat shock protein
  • binding to unfolded protein
  • NXN is an interaction partner of SEC63
  • is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to PCLD
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCLD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS