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Aliases for INSM1 Gene

Aliases for INSM1 Gene

  • INSM Transcriptional Repressor 1 2 3 5
  • Zinc Finger Protein IA-1 3 4
  • Insulinoma-Associated 1 2 3
  • IA1 3 4
  • Insulinoma-Associated Protein 1 3
  • Insulinoma Associated 1 2
  • IA-1 3

External Ids for INSM1 Gene

Previous GeneCards Identifiers for INSM1 Gene

  • GC20P020336
  • GC20P020343
  • GC20P020296

Summaries for INSM1 Gene

Entrez Gene Summary for INSM1 Gene

  • Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]

GeneCards Summary for INSM1 Gene

INSM1 (INSM Transcriptional Repressor 1) is a Protein Coding gene. Diseases associated with INSM1 include Insulinoma and Neuroendocrine Tumor. Among its related pathways are Regulation of beta-cell development and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is INSM2.

UniProtKB/Swiss-Prot for INSM1 Gene

  • Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5-[TG][TC][TC][TT][GA]GGG[CG]A-3 in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation.

Gene Wiki entry for INSM1 Gene

Additional gene information for INSM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSM1 Gene

Genomics for INSM1 Gene

Regulatory Elements for INSM1 Gene

Enhancers for INSM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H020451 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +84.4 84428 1 PKNOX1 MXI1 FOXA2 JUN SIN3A MAX EBF1 BATF HIC1 ZFHX2 INSM1 CFAP61 NAA20 ENSG00000225417 GC20P020439 GC20M020616
GH20H020392 1 Ensembl ENCODE dbSUPER 11.7 +25.5 25515 1 ZNF316 EGR1 MAFG NFE2 EMSY INSM1 GC20M020389 GC20P020407
GH20H020396 0.7 ENCODE dbSUPER 11.7 +28.3 28281 0 CTBP2 EZH2 INSM1 GC20M020389 GC20P020407
GH20H020412 0.8 FANTOM5 9.6 +44.8 44814 0 ZBTB21 JUN INSM2 FEZF1 ZIC2 ZNF664 ZNF366 ZSCAN5C ZNF600 CREM INSM1 GC20M020408 GC20P020419
GH20H020602 1.2 ENCODE dbSUPER 5.5 +235.5 235507 1 HDGF PKNOX1 INSM2 ZNF76 FEZF1 BATF ZNF366 ZSCAN5C SCRT2 ZNF143 RALGAPA2 INSM1 GC20M020616 GC20P020439
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INSM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for INSM1 Gene

Chromosome:
20
Start:
20,368,121 bp from pter
End:
20,370,949 bp from pter
Size:
2,829 bases
Orientation:
Plus strand

Genomic View for INSM1 Gene

Genes around INSM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSM1 Gene

Proteins for INSM1 Gene

  • Protein details for INSM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01101-INSM1_HUMAN
    Recommended name:
    Insulinoma-associated protein 1
    Protein Accession:
    Q01101

    Protein attributes for INSM1 Gene

    Size:
    510 amino acids
    Molecular mass:
    52923 Da
    Quaternary structure:
    • Interacts (via the SNAG domain) with HDAC1. Interacts (via the SNAG domain) with HDAC2. Interacts (via the SNAG domain) with KDM1A. Interacts (via the SNAG domain) with RCOR1. Interacts with SORBS1 (By similarity). Interacts (via the N-terminal region) with CCND1 (via cyclin N-terminal domain); the interaction competes with the binding of CCND1 to CDK4 during cell cycle progression and increases its transcriptional repressor activity. Interacts with HDAC3; the interaction increases its transcriptional repressor activity. Interacts with HDAC1.

    Three dimensional structures from OCA and Proteopedia for INSM1 Gene

neXtProt entry for INSM1 Gene

Post-translational modifications for INSM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for INSM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for INSM1

No data available for DME Specific Peptides for INSM1 Gene

Domains & Families for INSM1 Gene

Gene Families for INSM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for INSM1 Gene

Suggested Antigen Peptide Sequences for INSM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01101

UniProtKB/Swiss-Prot:

INSM1_HUMAN :
  • The C-terminal region is necessary for NEUROD1 promoter DNA-binding and transcriptional repressor activity.
  • Belongs to the INSM1 family.
Domain:
  • The C-terminal region is necessary for NEUROD1 promoter DNA-binding and transcriptional repressor activity.
Family:
  • Belongs to the INSM1 family.
genes like me logo Genes that share domains with INSM1: view

Function for INSM1 Gene

Molecular function for INSM1 Gene

GENATLAS Biochemistry:
insulinoma and other neuroendocrine tumor cell lines,intron less gene
UniProtKB/Swiss-Prot Function:
Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5-[TG][TC][TC][TT][GA]GGG[CG]A-3 in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation.
UniProtKB/Swiss-Prot Induction:
Up-regulated by transcription factors, such as MASH1, NEUROD1, NEUROG3, NGN3 and TCF3.

Gene Ontology (GO) - Molecular Function for INSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16569215
GO:0001047 core promoter binding IDA 11842116
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 16569215
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with INSM1: view
genes like me logo Genes that share phenotypes with INSM1: view

Animal Models for INSM1 Gene

MGI Knock Outs for INSM1:

Animal Model Products

CRISPR Products

miRNA for INSM1 Gene

miRTarBase miRNAs that target INSM1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for INSM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INSM1 Gene

Localization for INSM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSM1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INSM1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for INSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0017053 transcriptional repressor complex IDA 16569215
genes like me logo Genes that share ontologies with INSM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INSM1 Gene

Pathways & Interactions for INSM1 Gene

genes like me logo Genes that share pathways with INSM1: view

Gene Ontology (GO) - Biological Process for INSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11842116
GO:0001933 negative regulation of protein phosphorylation IDA 19124461
GO:0003309 type B pancreatic cell differentiation IEA,ISS --
GO:0003310 pancreatic A cell differentiation IEA,ISS --
GO:0003323 type B pancreatic cell development IEA --
genes like me logo Genes that share ontologies with INSM1: view

No data available for SIGNOR curated interactions for INSM1 Gene

Drugs & Compounds for INSM1 Gene

(1) Drugs for INSM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with INSM1: view

Transcripts for INSM1 Gene

mRNA/cDNA for INSM1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(77) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for INSM1 Gene

Insulinoma-associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for INSM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for INSM1 Gene

No ASD Table

Relevant External Links for INSM1 Gene

GeneLoc Exon Structure for
INSM1
ECgene alternative splicing isoforms for
INSM1

Expression for INSM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INSM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INSM1 Gene

This gene is overexpressed in Pituitary (x16.2), Brain - Cerebellar Hemisphere (x7.3), and Brain - Cerebellum (x6.9).

Protein differential expression in normal tissues from HIPED for INSM1 Gene

This gene is overexpressed in Heart (64.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for INSM1 Gene



Protein tissue co-expression partners for INSM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of INSM1 Gene:

INSM1

SOURCE GeneReport for Unigene cluster for INSM1 Gene:

Hs.89584

mRNA Expression by UniProt/SwissProt for INSM1 Gene:

Q01101-INSM1_HUMAN
Tissue specificity: Expressed in pancreatic duct cells. Expressed in several tumor cell lines of neuroendocrine origin including pheochromocytoma, medullary thyroid carcinoma, insulinoma, medulloblastoma, retinoblastoma, pheochromacytoma, medullary thyroid carcinoma and small cell lung carcinoma.

Evidence on tissue expression from TISSUES for INSM1 Gene

  • Pancreas(2.8)
  • Lung(2.2)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with INSM1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for INSM1 Gene

Orthologs for INSM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for INSM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INSM1 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia INSM1 33 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Insm1 33 16 34
  • 87.06 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912563 33
  • 84.15 (n)
dog
(Canis familiaris)
Mammalia INSM1 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INSM1 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INSM1 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INSM1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia insm1 33
  • 75.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14733 33
zebrafish
(Danio rerio)
Actinopterygii insm1a 33 34
  • 66.67 (n)
insm1b 34
  • 53 (a)
ManyToMany
wufc13a09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4749 33
fruit fly
(Drosophila melanogaster)
Insecta nerfin-2 35 34
  • 37 (a)
nerfin-1 34
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea egl-46 34
  • 29 (a)
OneToMany
Species where no ortholog for INSM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INSM1 Gene

ENSEMBL:
Gene Tree for INSM1 (if available)
TreeFam:
Gene Tree for INSM1 (if available)

Paralogs for INSM1 Gene

Paralogs for INSM1 Gene

genes like me logo Genes that share paralogs with INSM1: view

Variants for INSM1 Gene

Sequence variations from dbSNP and Humsavar for INSM1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000329102 -- 20,367,536(+) CCACT(A/G)CGCCT upstream-variant-2KB
rs1000489924 -- 20,366,860(+) GCTCA(A/G)TAGCA upstream-variant-2KB
rs1000784945 -- 20,367,770(+) CCCCC(C/G/T)GGAGG upstream-variant-2KB
rs1000840984 -- 20,366,527(+) TGGCT(A/G)TTTGT upstream-variant-2KB
rs1001196034 -- 20,369,578(+) GCGTC(A/C)GCCGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for INSM1 Gene

Variant ID Type Subtype PubMed ID
esv2666074 CNV deletion 23128226
nsv1133501 CNV deletion 24896259

Variation tolerance for INSM1 Gene

Gene Damage Index Score: 0.73; 15.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INSM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSM1 Gene

Disorders for INSM1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for INSM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulinoma
  • islet cell tumor
neuroendocrine tumor
  • neuroendocrine neoplasm
microinvasive cervical squamous cell carcinoma
  • early invasive cervical squamous cell carcinoma
early invasive cervical adenocarcinoma
cervix uteri carcinoma in situ
  • carcinoma in situ of cervix
- elite association - COSMIC cancer census association via MalaCards
Search INSM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for INSM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INSM1
genes like me logo Genes that share disorders with INSM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INSM1 Gene

Publications for INSM1 Gene

  1. INSM1 functions as a transcriptional repressor of the neuroD/beta2 gene through the recruitment of cyclin D1 and histone deacetylases. (PMID: 16569215) Liu WD … Lan MS (The Biochemical journal 2006) 2 3 4 22 60
  2. Genomic organization, 5'-upstream sequence, and chromosomal localization of an insulinoma-associated intronless gene, IA-1. (PMID: 8188699) Lan MS … Notkins AL (The Journal of biological chemistry 1994) 2 3 4 22 60
  3. IA1 is NGN3-dependent and essential for differentiation of the endocrine pancreas. (PMID: 16511571) Mellitzer G … Heimberg H (The EMBO journal 2006) 3 4 22 60
  4. NeuroD1/E47 regulates the E-box element of a novel zinc finger transcription factor, IA-1, in developing nervous system. (PMID: 12890672) Breslin MB … Lan MS (The Journal of biological chemistry 2003) 3 4 22 60
  5. Neuroendocrine differentiation factor, IA-1, is a transcriptional repressor and contains a specific DNA-binding domain: identification of consensus IA-1 binding sequence. (PMID: 11842116) Breslin MB … Lan MS (Nucleic acids research 2002) 3 4 22 60

Products for INSM1 Gene

Sources for INSM1 Gene

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