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FLASH GENE
Symbol SERPINI1 contributors: mct/npt/shn - updated : 09-02-2013
HGNC name serpin peptidase inhibitor, clade I (neuroserpin), member 1
HGNC id 8943
Corresponding disease
FENIB familial encephalopathy with neuroserpin inclusion bodies
Location 3q26.1      Physical location : 167.453.431 - 167.543.356
Synonym name
  • protease inhibitor 12 (neuroserpin)
  • serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1
  • neuroserpin
  • peptidase inhibitor 12
  • serpin I1
  • Synonym symbol(s) PI12, PI-12, DKFZp781N13156
    DNA
    TYPE functioning gene
    STRUCTURE 89.93 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D3S1264 - D3S1253 - SERPINI1 - D3S3622 - D3S1614 - qter
    Physical map
    BCHE 3q26.1-q26.2 butyrylcholinesterase LOC389173 3 similar to phosphoserine aminotransferase isoform 1 LOC285320 3q26.2 similar to heterochromatin-specific nonhistone protein LOC131055 3q26.2 similar to peptidyl-Pro cis trans isomerase FLJ23049 3q26.2 hypothetical protein FLJ23049 SERPINI2 3q26.1-q26.2 serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2 FLJ33620 3q26.2 hypothetical protein FLJ33620 PDCD10 3q26.2 programmed cell death 10 SERPINI1 3q26.31 serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1 GOLPH4 3q26 Golgi phosphoprotein 4 LOC389174 3 LOC389174 LOC253820 3q26.2-q26.31 similar to MEGF6 LOC93556 3q26.31 hypothetical protein BC011266 EVI1 3q26 ecotropic viral integration site 1 MDS1 3q21-q26 myelodysplasia syndrome 1 LOC389175 3 similar to ribosomal protein L22 LOC285262 3q26.31 similar to Succinate dehydrogenase [ubiquinone] cytochrome B small subunit, mitochondrial precursor (CybS) (Succinate-ubiquinone reductase membrane anchor subunit) (QPS2) (CII-4) (Succinate dehydrogenase complex subunit D) (Succinat TERC 3q26 telomerase RNA component ARPM1 3q26.31 actin related protein M1 MYNN 3p21.3-q25.2 myoneurin MGC27085 3q26.31 hypothetical protein MGC27085 LOC344657 3q26.31 similar to RIKEN cDNA 4930558O21 FLJ23259 3q26.31 hypothetical protein FLJ23259 LOC151825 3q26.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) SAMD7 3q26.31 sterile alpha motif domain containing 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 1696 55 410 - -
    9 splicing 1929 55 410 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • high molecular weight, reactive center loop characteristic of serpins
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Serpini1, Mus musculus
    ortholog to Serpini1, Rattus norvegicus
    ortholog to serpini1, Danio rerio
    ortholog to SERPINI1, Pan troglodytes
    Homologene
    FAMILY
  • serpin family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text localised to dense cored secretory vesicles in PC12 cells
    basic FUNCTION
  • implicated in the regulation of proteases involved in processes such as synaptic plasticity, neuronal migration and axogenesis
  • may play an important role in regulating axonal growth
  • a role in axon and dendritic growth
  • a key role as a regulator of neuronal development through a non-inhibitory mechanism
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS nervous system
    text putative regulator of extracellular proteolysis at growth cones or synapses
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • single-chain plasminogen activator, sct-PA and two-chain plasminogen activator, tct-PA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FENIB
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS