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

Summary

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
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: mouse all

Genomic context

Location:: 20p11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	20	NC_000020.11 (20368104..20370949)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (20348765..20351593)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NSM1 immunocytochemistry of cytological specimens obtained from endoscopic ultrasound-guided fine needle aspiration cytology can accurately diagnose pancreatic neuroendocrine tumours; therefore, INSM1 could be an important diagnostic tool in assessing therapeutic strategies, including molecular-targeted therapy.
Title: Insulinoma-associated protein 1 expression in pancreatic neuroendocrine tumours in endoscopic ultrasound-guided fine-needle aspiration cytology: An analysis of 14 patients.
we find that the expression of INSM1 is variable among peripheral neuroblastic tumors, with absence of expression in a subset of undifferentiated and poorly differentiated neuroblastomas, as well as in mature ganglioneuromas
Title: INSM1 Expression in Peripheral Neuroblastic Tumors and Other Embryonal Neoplasms.
INSM1 is a reliable marker of neuroendocrine differentiation in primary lung neoplasms
Title: Insulinoma-associated protein 1 (INSM1) is a sensitive and highly specific marker of neuroendocrine differentiation in primary lung neoplasms: an immunohistochemical study of 345 cases, including 292 whole-tissue sections.
INSM1 is a sensitive and specific marker for detection of neuroendocrine tumors in cytology samples independent of primary site.
Title: Insulinoma-associated protein 1 immunostaining on cytology specimens: an institutional experience.
5'-Iodotubercidin treatment and INSM1 inhibition suppressed extracellular signal-regulated kinase 1/2 (ERK1/2) activity and the AKT signaling pathways required for neuroblastoma cell proliferation.
Title: 5'-Iodotubercidin represses <i>insulinoma-associated-1</i> expression, decreases cAMP levels, and suppresses human neuroblastoma cell growth.
INSM1 holds promise as a neuroendocrine marker that can distinguish Merkel cell carcinoma from its mimickers in the skin.
Title: INSM1 Is More Sensitive and Interpretable than Conventional Immunohistochemical Stains Used to Diagnose Merkel Cell Carcinoma.
INSM1 functions as a key player in neuroendocrine lung cancer via sonic hedgehog (Shh) signaling that crosstalk with PI3K/AKT and MEK/ERK(1/2) pathway to enhance N-myc stability in neuroendocrine lung cancer.
Title: Sonic hedgehog signaling pathway promotes INSM1 transcription factor in neuroendocrine lung cancer.
INSM1 is expressed in most of the tumors with neuroendocrine and neuroepithelial differentiation in this study, confirming the diagnostic utility of INSM1 as a novel and sensitive marker of NE/neuroepithelial differentiation.
Title: Expression of Insulinoma-Associated Protein 1 (INSM1) and Orthopedia Homeobox (OTP) in Tumors with Neuroendocrine Differentiation at Rare Sites.
nuclear INSM1 immunostaining may serve as a strong nuclear marker in the brain for neoplasms of neuroendocrine or immature neuronal differentiation, when used in concert with other immunostains
Title: INSM1 Expression Is Frequent in Primary Central Nervous System Neoplasms but Not in the Adult Brain Parenchyma.
INSM1 is a novel sensitive and specific marker for detection of small cell carcinoma of the prostate.
Title: Insulinoma-associated protein 1 is a novel sensitive and specific marker for small cell carcinoma of the prostate.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

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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

D20S1101 (e-PCR)
- UniSTS:40202

RH67943 (e-PCR)
- UniSTS:27264

STS-M93119 (e-PCR)
- UniSTS:28037

PMC100352P1 (e-PCR)
- UniSTS:270058

NoName (e-PCR)
- UniSTS:482301

Homology

Homologs of the INSM1 gene: The INSM1 gene is conserved in chimpanzee, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 220 organisms have orthologs with human gene INSM1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adrenal chromaffin cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
cell cycle	IEA Inferred from Electronic Annotation more info
endocrine pancreas development	TAS Traceable Author Statement more info
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
noradrenergic neuron development	ISS Inferred from Sequence or Structural Similarity more info
norepinephrine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
pancreatic A cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
positive regulation of neural precursor cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell cycle process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
regulation of protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
sympathetic ganglion development	ISS Inferred from Sequence or Structural Similarity more info
transdifferentiation	IDA Inferred from Direct Assay more info	PubMed
type B pancreatic cell development	IEA Inferred from Electronic Annotation more info
type B pancreatic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	ISS Inferred from Sequence or Structural Similarity more info
transcriptional repressor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transcriptional 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)

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