INSM1 (INSM transcriptional repressor 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3642
Gene name Gene Name - the full gene name approved by the HGNC.
INSM transcriptional repressor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INSM1
Synonyms (NCBI Gene) Gene synonyms aliases
IA-1, IA1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
miRTarBase ID miRNA Experiments Reference
MIRT001751 hsa-miR-375 Other 15806104
MIRT1067752 hsa-miR-33a CLIP-seq
MIRT1067753 hsa-miR-33b CLIP-seq
MIRT1067754 hsa-miR-4311 CLIP-seq
MIRT1067755 hsa-miR-548a-5p CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
CREBBP Activation 17300785
POU1F1 Unknown 8188699
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11842116, 16569215, 18417529, 19124461
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 11842116, 16569215, 18417529
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600010 6090 ENSG00000173404
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q01101
Protein name Insulinoma-associated protein 1 (Zinc finger protein IA-1)
Protein function Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' i
PDB 2LV2 , 3ZMS , 8JPY , 8JQ1 , 8K81
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 295 → 317 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 367 → 390 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 440 → 464 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 469 → 492 Zinc finger, C2H2 type Domain
Tissue specificity 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 
MPRGFLVKRSKKSTPVSYRVRGGEDGDRALLLSPSCGGARAEPPAPSPVPGPLPPPPPAE
RAHAALAAALACAPGPQPPPQGPRAAHFGNPEAAHPAPLYSPTRPVSREHEKHKYFERSF
NLGSPVSAESFPTPAALLGGGGGGGASGAGGGGTCGGDPLLFAPAELKMGTAFSAGAEAA
RGPGPGPPLPPAAALRPPGKRPPPPTAAEPPAKAVKAPGAKKPKAIRKLHFEDEVTTSPV
LGLKIKEGPVEAPRGRAGGAARPLGEFICQLCKEEYADPFALAQHKCSRIVRVEYRCPEC
AKVFSCPANLASHRRWHKPRPAPAAARAPEPEAAARAEAREAPGGGSDRDTPSPGGVSES
GSEDGLYECHHCAKKFRRQAYLRKHLLAHHQALQAKGAPLAPPAEDLLALYPGPDEKAPQ
EAAGDGEGAGVLGLSASAECHLCPVCGESFASKGAQERHLRLLHAAQVFPCKYCPATFYS
SPGLTRHINKCHPSENRQVILLQVPVRPAC
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Lung carcinoma Small cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)		 23582323
Show/Hide Text Mining Associations (36)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32203089
Breast Neoplasms Associate 34008122, 34764822, 35690220, 38041048
Carcinoid Tumor Associate 32203089
Carcinoma Adenoid Cystic Associate 32203089
Carcinoma Large Cell Associate 32203089, 34996493, 35608806
Carcinoma Merkel Cell Associate 34667274
Carcinoma Neuroendocrine Associate 29327709, 34401980, 35608806, 35690220, 37027114, 37951531, 39472993
Carcinoma Small Cell Associate 31436913, 32203089, 36008402
Carcinoma Squamous Cell Associate 32203089
Chondrosarcoma Extraskeletal Myxoid Associate 29327709, 38447752