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
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Genomic context

Location:: 20p11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	20	NC_000020.11 (20368104..20370949)
105.20201022	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?

Neuroendocrine differentiation in a large series of genetically-confirmed Ewing's sarcoma family tumor: Does it provide any diagnostic or prognostic information?
Title: Neuroendocrine differentiation in a large series of genetically-confirmed Ewing's sarcoma family tumor: Does it provide any diagnostic or prognostic information?
[Expression of CD200 and INSM1 in gastrointestinal and pancreatic neuroendocrine neoplasms and its diagnostic values].
Title: [Expression of CD200 and INSM1 in gastrointestinal and pancreatic neuroendocrine neoplasms and its diagnostic values].
INSM1 Expression in Chordomas.
Title: INSM1 Expression in Chordomas.
Insulinoma-associated protein 1 (INSM1) expression in breast carcinomas with neuroendocrine morphologies: application and future prospective.
Title: Insulinoma-associated protein 1 (INSM1) expression in breast carcinomas with neuroendocrine morphologies: application and future prospective.
Well-differentiated rectal neuroendocrine tumors: analysis of histology, including insulinoma-associated protein 1 expression, and biologic behavior, involving a large cohort of 94 cases.
Title: Well-differentiated rectal neuroendocrine tumors: analysis of histology, including insulinoma-associated protein 1 expression, and biologic behavior, involving a large cohort of 94 cases.
Expression of novel neuroendocrine marker insulinoma-associated protein 1 (INSM1) in genitourinary high-grade neuroendocrine carcinomas: An immunohistochemical study with specificity analysis and comparison to chromogranin, synaptophysin, and CD56.
Title: Expression of novel neuroendocrine marker insulinoma-associated protein 1 (INSM1) in genitourinary high-grade neuroendocrine carcinomas: An immunohistochemical study with specificity analysis and comparison to chromogranin, synaptophysin, and CD56.
Insulinoma-associated protein 1 immunostaining for various types of neuroendocrine tumors on FNA smears.
Title: Insulinoma-associated protein 1 immunostaining for various types of neuroendocrine tumors on FNA smears.
Insulinoma-associated Protein 1 (INSM1) Is a Better Marker for the Diagnosis and Prognosis Estimation of Small Cell Lung Carcinoma Than Neuroendocrine Phenotype Markers Such as Chromogranin A, Synaptophysin, and CD56.
Title: Insulinoma-associated Protein 1 (INSM1) Is a Better Marker for the Diagnosis and Prognosis Estimation of Small Cell Lung Carcinoma Than Neuroendocrine Phenotype Markers Such as Chromogranin A, Synaptophysin, and CD56.
Insulinoma-associated protein 1 (INSM1) is a robust marker for identifying and grading pancreatic neuroendocrine tumors.
Title: Insulinoma-associated protein 1 (INSM1) is a robust marker for identifying and grading pancreatic neuroendocrine tumors.
Insulinoma-associated protein 1 controls nasopharyngeal carcinoma to radiotherapy by modulating cyclin D1-dependent DNA repair machinery.
Title: Insulinoma-associated protein 1 controls nasopharyngeal carcinoma to radiotherapy by modulating cyclin D1-dependent DNA repair machinery.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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: 312 organisms have orthologs with human gene INSM1
Orthologs

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	PubMed
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	PubMed
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

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 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	PubMed
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	PubMed
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	PubMed
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	PubMed
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	PubMed
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