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; 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: mouse all
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Genomic context

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_000020.11 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?

INSM1 expression in primary and metastatic neuroendocrine neoplasms at distinct locations.
Title: INSM1 expression in primary and metastatic neuroendocrine neoplasms at distinct locations.
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.
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.
Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma.
Title: Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma.
INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance.
Title: INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance.
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.
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.
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.
INSM1 Expression in Breast Neoplasms with Neuroedocrine Features.
Title: INSM1 Expression in Breast Neoplasms with Neuroedocrine Features.
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

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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

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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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