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FLASH GENE
Symbol SERPINH1 contributors: mct/npt/pgu - updated : 22-10-2016
HGNC name serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
HGNC id 1546
Corresponding disease
OIX osteogenesis imperfecta type X
Location 11q13.5      Physical location : 75.273.169 - 75.283.844
Synonym name
  • colligin-1
  • collagen-binding protein 1 (gp46)
  • gelatin binding protein
  • serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2
  • arsenic-transactivated protein 3
  • rheumatoid arthritis-related antigen RA-A47
  • 47 kDa heat shock protein
  • cell proliferation-inducing gene 14 protein
    • Synonym symbol(s) CBP1, COLBP2, HSP47, CBP2, SERPINH2, AsTP3, RA-A47
    DNA
    TYPE functioning gene
    STRUCTURE 10.75 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2208 47 418 - 2012 2304989
    6 - 2333 - 418 - 2012 2304989
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     intestinesmall intestine  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage constitutively expressed in hepatic stellate cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a serpin site
  • a C terminal RDEL sequence (endoplastic reticulum (ER) retention signal), providing ER anchor
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY serpin family
    CATEGORY chaperone/stress , enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • endoplastic reticulum (ER) retention signal
  • ER-resident chaperone that is essential for the proper assembly of the triple-helical procollagen molecules, which eventually are transported across the Golgi apparatus to the extracellular space
    • basic FUNCTION
  • serine protease inhibitor, chaperone, not functioning as a colligin but essential for the early stages of collagen biosynthesis
  • endoplasmic reticulum-resident chaperone that plays an essential role in normal procollagen folding
  • collagen chaperone protein
  • its function is may be independent of the CRTAP/P3H1/CyPB complex responsible for 3-hydroxylation
  • is indispensable for well-organized cartilage and normal endochondral bone formation
  • procollagen-specific molecular chaperone that, unlike other chaperones, specifically recognizes the folded conformation of its client
  • stabilizes the folded state of the collagen triple helix
  • FKBP10, PLOD2 and SERPINH1, acts during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result
  • may be related to the TGFB1-induced transdifferentiation of human Tenon fibroblasts to myofibroblasts
  • molecular chaperone that is required for the maturation of various types of collagen and has been shown to be a critical modulator of different pathological and physiological processes
  • SERPINH1 and FKBP10 act cooperatively during posttranslational maturation of type I procollagen but fail to properly interact in mutant SERPINH1 cells
  • collagen-specific molecular chaperone that is essential for the maturation and secretion of collagen
  • functions as a nodal hub in regulating an ECM gene transcription network
  • importance of intracellular SERPINH1 retrograde trafficking in bone metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with correctly folded collagen triple-helical regions comprised of Gly-Xaa-Yaa repeats, and Arg residues at Yaa positions have been shown to be important for this interaction
  • interact with type I procollagen
  • crucial role of SERPINH1 in the KDELR2-associated pathogenic mechanism leading to Osteogenesis imperfecta (OI)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    at SERPINH1 binding sites in type I collagen could play an additive role and affect clinical outcome more than mutations in nonbinding sites and might help to explain the marked variation phenotypic of osteogenesis imperfecta
    tumoral       gain of function
    during breast cancer development and progression
    tumoral     --over  
    promotes cancer progression in part by enhancing deposition of ECM proteins
    Susceptibility to preterm premature rupture of membranes
    Variant & Polymorphism SNP -656 T allele in the promoter is the first example of an ancestry-informative marker associated with preterm birth in African Americans
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    could be a promising therapeutic target in liver fibrosis
    ANIMAL & CELL MODELS
  • p.L326P mutation in the canine Serpinh1 gene as the candidate causative mutation for OI in Dachshunds
  • Hsp47 conditional null mutant mice died just before or shortly after birth, and exhibited severe generalized chondrodysplasia and bone deformities with lower levels of type II and type XI collagen