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FLASH GENE
Symbol INSM1 contributors: mct/npt - updated : 13-05-2009
HGNC name insulinoma-associated 1
HGNC id 6090
Location 20p11.23      Physical location : 20.348.764 - 20.351.590
Synonym name zinc finger protein IA-1
Synonym symbol(s) IA1, IA-1
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene
text situated on the promoter region of the NEUROD1 gene
STRUCTURE 2.83 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif repetitive sequence
text structure three putative E-boxes (approximately 361 bp) upstream of the transcription start site was sufficient to confer tissue-specific transcriptional activity
MAPPING cloned Y linked N status provisional
Physical map
C20orf12 20p11.23 chromosome 20 open reading frame 12 POLR3F 20p11.23 polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa RBBP9 20p11.2 retinoblastoma binding protein 9 RPS19P1 20p11.23 ribosomal protein S19 pseudogene 1 SEC23B 20pter-p12.3 Sec23 homolog B (S. cerevisiae) LOC388789 20 hypothetical gene supported by AF147354 HARS2 20p11.23 histidyl-tRNA synthetase 2 HSPC072 20p11.23 HSPC072 protein C20orf78 20p11.23 chromosome 20 open reading frame 78 C20orf79 20 chromosome 20 open reading frame 79 SLC24A3 20p13 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 LOC388790 20 LOC388790 RPL12L3 20p11.22 ribosomal protein L12-like 3 RIN2 20p11.22 Ras and Rab interactor 2 NAT5 20p11.22 N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae) CRNKL1 20q12 Crn, crooked neck-like 1 (Drosophila) C20orf26 20p11.23 chromosome 20 open reading frame 26 RPL17P1 20p11.2 ribosomal protein L17 pseudogene 1 INSM1 20p11.21 insulinoma-associated 1 KIAA1272 20p11.22 KIAA1272 protein MRPS11P1 20p11.22 KIAA1272 protein LOC388791 20 LOC388791 C20orf19 20pter-q11.23 chromosome 20 open reading frame 19 RPS15AP1 20p11.22 ribosomal protein S15a pseudogene 1 XRN2 20p11.2-p11.1 5'-3' exoribonuclease 2 LOC391233 20 similar to Homeobox protein Nkx-2.4 (Homeobox protein NKX2.4) (Homeobox protein NK-2 homolog D) GSTM3P 20p11.22 glutathione S-transferase M3 pseudogene NKX2-2 20p11.22 NK2 transcription factor related, locus 2 (Drosophila) LOC388792 20 LOC388792 PAX1 20p11.2 paired box gene 1 SLC25A6P1 20p11 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 RPL41P1 20p11.23-p11.21 ribosomal protein L41, pseudogene 1 ST13P 20p11.22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2838 53 510 - Liu (2006)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas   highly
Nervousbrain   moderately
Respiratorylung   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines insulinoma and other neuroendocrine tumor cell lines, small cells lung cancer
fluid/secretion
at STAGE
physiological period fetal
Text exclusively expressed in the foetal pancreas and nervous system, and in tumours of neuroendocrine origin
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal SNAG motif (repressor motif), proline-rich portion of required for cyclin D1 (CCND1) binding (Zhang 2009)
  • three proline-rich domain
  • a zinc finger DNA-binding domain and a putative prohormone domain
  • five zinc finger protein, class I (Cys2-His2) at the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • SNAG transcriptional repressor family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • recruits cyclin D1 (CCND1) and HDACs, which confer transcriptional repressor activity
  • may be auto-regulated and play a role in pancreas and neuronal development
  • zinc finger transcription factor that plays an important role in pancreatic beta-cell development (Zhang 2009)
  • functions as a transcriptional repressor of the NEUROD1 gene through the recruitment of cyclin D1 and histone deacetylases specifically in the regulation of the NEUROD1 gene
  • binds to cyclin D1, interrupts cell cycle signaling, and inhibits cellular proliferation (Zhang 2009)
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • SORBS1
  • recruits cyclin D1 and HDACs, which confer transcriptional repressor activity
  • interacting with CCND1 (binding to cyclin D1 could inhibit the CDK4 activity) (Zhang 2009)
  • novel HH target
  • cell & other
    REGULATION
    activated by NEUROD1 transcription through the proximal E-box element of the INSM1 promoter
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene marker for neuroendocrine differentiation in human lung tumors
    Marker
    Therapy target
    ANIMAL & CELL MODELS