NUTM1 Gene: NUT Midline Carcinoma Family Member 1
NUTM1 rearrangements in NUT carcinoma and other cancers
Gene Information Card
| Symbol | NUTM1 |
|---|---|
| Full Name | NUT Midline Carcinoma Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 256646 ncbi.nlm.nih.gov/gene/256646 |
| Ensembl ID | ENSG00000188976 |
| UniProt ID | Q86Y26 |
| OMIM ID | 608963 |
| HGNC ID | 29919 |
| Aliases | NUT, C15orf55, FAM22A |
Description
NUTM1 (NUT Midline Carcinoma Family Member 1) encodes a nuclear protein of unknown biochemical function that is normally expressed only in testis. In NUT carcinoma (formerly NUT midline carcinoma), NUTM1 is fused to BRD4 or other chromatin-associated genes, leading to aberrant transcriptional activation and oncogenesis. The gene is located on chromosome 15q14 and spans approximately 35 kb.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NUT carcinoma (NUT midline carcinoma) | BRD4-NUTM1 or BRD3-NUTM1 fusion drives oncogenic transcriptional program via histone acetylation readout | Multiple case series and molecular studies (French CA et al., J Clin Oncol 2004; Haack H et al., PNAS 2007) |
| Other rare NUTM1-rearranged tumors (e.g., porocarcinoma, sarcoma) | Fusion with NSD3, ZNF532, or other partners leads to similar oncogenic mechanism | Case reports and genomic profiling (Stevens TM et al., Mod Pathol 2019; Dickson BC et al., Genes Chromosomes Cancer 2018) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM < 1) |
| All other tissues | 0.0 | Not detected (nTPM < 1) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NUT carcinoma cell lines (e.g., TC-797) | Not applicable (fusion transcript only) | NUTM1 expression is driven by fusion partner promoter |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| BRD4-NUTM1 fusion | Gene fusion | ~70% of NUT carcinoma | Oncogenic; BRD4 brings NUTM1 to acetylated histones, activating MYC and other targets |
| BRD3-NUTM1 fusion | Gene fusion | ~15% of NUT carcinoma | Similar mechanism to BRD4-NUTM1 |
| NSD3-NUTM1 fusion | Gene fusion | Rare | Alternative fusion partner; NSD3 is a histone methyltransferase |
Mutation functional classification
Loss of Function (LOF)
Not applicable; NUTM1 is not a tumor suppressor.
Gain of Function (GOF)
Fusion proteins (e.g., BRD4-NUTM1) acquire ability to bind acetylated histones and activate transcription of oncogenes like MYC.
Dominant Negative (DN)
Not described for NUTM1 fusions.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • transcription cofactor activity (GO:0003712) |
Pathways
• BRD4-NUTM1 transcriptional activation of MYC and downstream targets
Protein Summary
The NUTM1 protein is a nuclear protein of 1132 amino acids with no known enzymatic domains. It contains a conserved NUT domain that mediates interaction with acetylated histones. In normal testis, its function is unknown. In NUT carcinoma, fusion with BRD4 (or other partners) creates a potent oncoprotein that binds acetylated histones via the BRD4 bromodomains and recruits NUTM1 to activate transcription of pro-proliferative genes such as MYC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUTM1 Knockout HEK293 Cell Line | EDJ-KQ11840 | Human | 256646 | Details Get a Quote |
| NUTM1 Knockout HeLa Cell Line | EDJ-KQ59308 | Human | 256646 | Details Get a Quote |
| NUTM1 Knockout A-549 Cell Line | EDJ-KQ67775 | Human | 256646 | Details Get a Quote |
| NUTM1 Knockout HCT 116 Cell Line | EDJ-KQ76157 | Human | 256646 | Details Get a Quote |
