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INSM1 INSM transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 3642, updated on 5-Mar-2024

Summary

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Official Symbol
INSM1provided by HGNC
Official Full Name
INSM transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:6090
See related
Ensembl:ENSG00000173404 MIM:600010; AllianceGenome:HGNC:6090
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IA1; IA-1
Summary
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]
Orthologs
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Genomic context

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See INSM1 in Genome Data Viewer
Location:
20p11.23
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20368104..20370949)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20426632..20429477)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20348748..20351593)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 61 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20247710-20248210 Neighboring gene CFAP61 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12710 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene Sharpr-MPRA regulatory region 956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene Ral GTPase activating protein catalytic subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12711 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12712 Neighboring gene Sharpr-MPRA regulatory region 2040 Neighboring gene LLPH pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions. Lenz J, et al. Hum Pathol, 2023 Apr. PMID 36563884
  2. INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance. Zhang Q, et al. Biomed Res Int, 2022. PMID 36531655, Free PMC Article
  3. Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma. Kashima J, et al. Virchows Arch, 2022 Dec. PMID 36305944
  4. Immunosensitivity and specificity of insulinoma-associated protein 1 (INSM1) for neuroendocrine neoplasms of the uterine cervix. Kuji S, et al. J Gynecol Oncol, 2023 Jan. PMID 36245222, Free PMC Article
  5. Cross-talk among MEN1, p53 and Notch regulates the proliferation of pancreatic neuroendocrine tumor cells by modulating INSM1 expression and subcellular localization. Capodanno Y, et al. Neoplasia, 2021 Sep. PMID 34352404, Free PMC Article

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. INSM1 expression in primary and metastatic neuroendocrine neoplasms at distinct locations.
    Title: INSM1 expression in primary and metastatic neuroendocrine neoplasms at distinct locations.
  2. Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions.
    Title: Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions.
  3. Immunosensitivity and specificity of insulinoma-associated protein 1 (INSM1) for neuroendocrine neoplasms of the uterine cervix.
    Title: Immunosensitivity and specificity of insulinoma-associated protein 1 (INSM1) for neuroendocrine neoplasms of the uterine cervix.
  4. Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma.
    Title: Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma.
  5. INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance.
    Title: INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance.
  6. Next-generation sequencing analysis suggests varied multistep mutational pathogenesis for endocrine mucin-producing sweat gland carcinoma with comments on INSM1 and MUC2 suggesting a conjunctival origin.
    Title: Next-generation sequencing analysis suggests varied multistep mutational pathogenesis for endocrine mucin-producing sweat gland carcinoma with comments on INSM1 and MUC2 suggesting a conjunctival origin.
  7. Exploration of INSM1 and hASH1 as additional markers in lung cytology samples of high-grade neuroendocrine carcinoma with indeterminate neuroendocrine differentiation.
    Title: Exploration of INSM1 and hASH1 as additional markers in lung cytology samples of high-grade neuroendocrine carcinoma with indeterminate neuroendocrine differentiation.
  8. Utility of Insulinoma-Associated Protein 1 (INSM1) and Mucin 2 (MUC2) Immunohistochemistry in the Distinction of Endocrine Mucin-Producing Sweat Gland Carcinoma From Morphologic Mimics.
    Title: Utility of Insulinoma-Associated Protein 1 (INSM1) and Mucin 2 (MUC2) Immunohistochemistry in the Distinction of Endocrine Mucin-Producing Sweat Gland Carcinoma From Morphologic Mimics.
  9. INSM1 Expression in Breast Neoplasms with Neuroedocrine Features.
    Title: INSM1 Expression in Breast Neoplasms with Neuroedocrine Features.
  10. Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
    Title: Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of insulinoma-associated 1 (INSM1) in peptide-treated PBMCs PubMed
Tat tat HIV-1 Tat downregulates insulinoma-associated 1 in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cyclin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular adaptor activity EXP
Inferred from Experiment
more info
 PubMed 
Process Evidence Code Pubs
involved_in adrenal chromaffin cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in noradrenergic neuron development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in norepinephrine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in pancreatic A cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neural precursor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of protein-containing complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sympathetic ganglion development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transdifferentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in type B pancreatic cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in type B pancreatic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of transcription repressor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription repressor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
insulinoma-associated protein 1
Names
insulinoma-associated 1
zinc finger protein IA-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002196.3 → NP_002187.1  insulinoma-associated protein 1

    See identical proteins and their annotated locations for NP_002187.1

    Status: REVIEWED

    Source sequence(s)
    AL161658
    Consensus CDS
    CCDS13143.1
    UniProtKB/Swiss-Prot
    Q01101
    Related
    ENSP00000312631.1, ENST00000310227.3
    Conserved Domains (2) summary
    sd00017
    Location:269 → 289
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:367 → 389
    zf-C2H2; Zinc finger, C2H2 type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    20368104..20370949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    20426632..20429477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01101.1 GenPept UniProtKB/Swiss-Prot:Q01101

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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