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

    Gene ID: 3642, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20368104..20370949)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20426632..20429477)
    RS_2024_09 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. Insulinoma-associated protein 1 (INSM1) is a useful marker for pancreatic neuroendocrine tumor. Tanigawa M, et al. Med Mol Morphol, 2018 Mar. PMID 28849340
    2. INSM1 Expression in Peripheral Neuroblastic Tumors and Other Embryonal Neoplasms. Wang H, et al. Pediatr Dev Pathol, 2019 Oct. PMID 30975032
    3. 5'-Iodotubercidin represses insulinoma-associated-1 expression, decreases cAMP levels, and suppresses human neuroblastoma cell growth. Chen C, et al. J Biol Chem, 2019 Apr 5. PMID 30755485, Free PMC Article
    4. Expression of Insulinoma-Associated Protein 1 (INSM1) and Orthopedia Homeobox (OTP) in Tumors with Neuroendocrine Differentiation at Rare Sites. Roy M, et al. Endocr Pathol, 2019 Mar. PMID 30523500
    5. Insulinoma-associated protein 1 immunostaining on cytology specimens: an institutional experience. Rodriguez EF, et al. Hum Pathol, 2019 Mar. PMID 30502379

    See all (82) 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)

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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.

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