• Gene id: 3642

Gene Summary

• Gene Symbol: INSM1   Gene   UCSC   Ensembl
• Aliases: IA-1, IA1
• Gene name: INSM transcriptional repressor 1
• Alternate names: insulinoma-associated protein 1, insulinoma-associated 1, zinc finger protein IA-1,
• Gene location: 20p11.23 (20368103: 20370948)     Exons: 1     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 600010

Protein Summary

• Protein general information: Q01101  
  • Name: Insulinoma associated protein 1 (Zinc finger protein IA 1)
  • Length: 510  
  • Mass: 52923
  • Tissue specificity: Expressed in pancreatic duct cells. Expressed in several tumor cell lines of neuroendocrine origin including pheochromocytoma, medullary thyroid carcinoma, insulinoma, medulloblastoma, retinoblastoma, pheochromacytoma, medullary thyroi
• Sequence:

  MPRGFLVKRSKKSTPVSYRVRGGEDGDRALLLSPSCGGARAEPPAPSPVPGPLPPPPPAERAHAALAAALACAPG
  PQPPPQGPRAAHFGNPEAAHPAPLYSPTRPVSREHEKHKYFERSFNLGSPVSAESFPTPAALLGGGGGGGASGAG
  GGGTCGGDPLLFAPAELKMGTAFSAGAEAARGPGPGPPLPPAAALRPPGKRPPPPTAAEPPAKAVKAPGAKKPKA
  IRKLHFEDEVTTSPVLGLKIKEGPVEAPRGRAGGAARPLGEFICQLCKEEYADPFALAQHKCSRIVRVEYRCPEC
  AKVFSCPANLASHRRWHKPRPAPAAARAPEPEAAARAEAREAPGGGSDRDTPSPGGVSESGSEDGLYECHHCAKK
  FRRQAYLRKHLLAHHQALQAKGAPLAPPAEDLLALYPGPDEKAPQEAAGDGEGAGVLGLSASAECHLCPVCGESF
  ASKGAQERHLRLLHAAQVFPCKYCPATFYSSPGLTRHINKCHPSENRQVILLQVPVRPAC

• Structural information:
  • Interpro: IPR042972  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 2LV2 3ZMS
  • PDBsum: 2LV2 3ZMS
  • STRING: ENSP00000312631
• Other Databases: GeneCards:  INSM1  Malacards:  INSM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0010564	regulation of cell cycle process	IBA	biological process
GO:0017053	transcription repressor complex	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0043254	regulation of protein-containing complex assembly	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0071158	positive regulation of cell cycle arrest	IDA	biological process
GO:0060290	transdifferentiation	IDA	biological process
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	ISS	biological process
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0045597	positive regulation of cell differentiation	ISS	biological process
GO:0003310	pancreatic A cell differentiation	ISS	biological process
GO:0003309	type B pancreatic cell differentiation	ISS	biological process
GO:0061104	adrenal chromaffin cell differentiation	ISS	biological process
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042421	norepinephrine biosynthetic process	ISS	biological process
GO:0030332	cyclin binding	IPI	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0030332	cyclin binding	IPI	molecular function
GO:0010468	regulation of gene expression	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003358	noradrenergic neuron development	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031018	endocrine pancreas development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:2000179	positive regulation of neural precursor cell proliferation	IEA	biological process
GO:0061549	sympathetic ganglion development	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0035270	endocrine system development	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003310	pancreatic A cell differentiation	IEA	biological process
GO:0003309	type B pancreatic cell differentiation	IEA	biological process
GO:0061104	adrenal chromaffin cell differentiation	IEA	biological process
GO:0042421	norepinephrine biosynthetic process	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003358	noradrenergic neuron development	IEA	biological process
GO:0003323	type B pancreatic cell development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)