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Aliases for INSM1 Gene

Aliases for INSM1 Gene

  • Insulinoma Associated 1 2 3 5
  • Zinc Finger Protein IA-1 3 4
  • Insulinoma-Associated 1 2 3
  • IA1 3 4
  • 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 (Insulinoma Associated 1) is a Protein Coding gene. Diseases associated with INSM1 include insulinoma and neuroendocrine tumor. Among its related pathways are Developmental Biology and Regulation of beta-cell development. 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

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

Genomics for INSM1 Gene

Regulatory Elements for INSM1 Gene

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

Proteomics data for INSM1 Gene at MOPED

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

No data available for DME Specific Peptides for INSM1 Gene

Domains & Families for INSM1 Gene

Gene Families for INSM1 Gene

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.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The C-terminal region is necessary for NEUROD1 promoter DNA-binding and transcriptional repressor activity.
Family:
  • Belongs to the INSM1 family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
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:0003700 transcription factor activity, sequence-specific DNA binding IDA 11842116
GO:0005515 protein 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

miRNA for INSM1 Gene

miRTarBase miRNAs that target INSM1

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for INSM1 Gene COMPARTMENTS Subcellular localization image for INSM1 gene
Compartment Confidence
nucleus 5
cytosol 2
chloroplast 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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:0003323 type B pancreatic cell development IEA --
GO:0003358 noradrenergic neuron development IEA,ISS --
GO:0006351 transcription, DNA-templated 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:

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 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



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.
genes like me logo Genes that share expression patterns with INSM1: view

Protein tissue co-expression partners for INSM1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for INSM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for INSM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia INSM1 35
  • 91.57 (n)
  • 92.94 (a)
INSM1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Insm1 35
  • 87.06 (n)
  • 87.65 (a)
Insm1 16
Insm1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia INSM1 35
  • 99.54 (n)
  • 99.41 (a)
INSM1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912563 35
  • 84.15 (n)
  • 85.34 (a)
dog
(Canis familiaris)
Mammalia INSM1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INSM1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INSM1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INSM1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia insm1 35
  • 75.03 (n)
  • 76.05 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14733 35
zebrafish
(Danio rerio)
Actinopterygii insm1a 35
  • 66.67 (n)
  • 65.45 (a)
wufc13a09 35
insm1a 36
  • 61 (a)
ManyToMany
insm1b 36
  • 53 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4749 35
fruit fly
(Drosophila melanogaster)
Insecta nerfin-2 37
  • 37 (a)
nerfin-1 36
  • 21 (a)
ManyToMany
nerfin-2 36
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea egl-46 36
  • 29 (a)
OneToMany
Species with no ortholog for INSM1:
  • 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
rs1051706 -- 20,369,926(+) GGTGA(A/G)AGTGT utr-variant-3-prime
rs6081978 -- 20,370,239(+) GTGAA(A/T)CTTGA utr-variant-3-prime
rs6137006 -- 20,366,424(+) ACTCA(A/G)CAAAA upstream-variant-2KB
rs6137007 -- 20,369,872(+) TGCAC(G/T)CCCCG utr-variant-3-prime
rs7272722 -- 20,370,190(+) CGCCT(A/C)CCAAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2666074 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
INSM1

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

Disorders for INSM1 Gene

MalaCards: The human disease database

(13) 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 W.D. … Lan M.S. (Biochem. J. 2006) 2 3 4 23 67
  2. Genomic organization, 5'-upstream sequence, and chromosomal localization of an insulinoma-associated intronless gene, IA-1. (PMID: 8188699) Lan M.S. … Notkins A.L. (J. Biol. Chem. 1994) 2 3 23
  3. IA1 is NGN3-dependent and essential for differentiation of the endocrine pancreas. (PMID: 16511571) Mellitzer G. … Heimberg H. (EMBO J. 2006) 3 23
  4. NeuroD1/E47 regulates the E-box element of a novel zinc finger transcription factor, IA-1, in developing nervous system. (PMID: 12890672) Breslin M.B. … Lan M.S. (J. Biol. Chem. 2003) 3 23
  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 M.B. … Lan M.S. (Nucleic Acids Res. 2002) 3 23

Products for INSM1 Gene

Sources for INSM1 Gene

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