KDM1B (Lysine Demethylase 1B)
A flavin-dependent histone demethylase regulating gene expression and chromatin dynamics
Gene Information Card
| Symbol | KDM1B |
|---|---|
| Full Name | Lysine Demethylase 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 221656 ncbi.nlm.nih.gov/gene/221656 |
| Ensembl ID | ENSG00000165097 |
| UniProt ID | Q8NB78 |
| OMIM ID | 609366 |
| HGNC ID | 21577 |
| Aliases | AOF1, LSD2, FLJ30946 |
Description
KDM1B (lysine demethylase 1B) encodes a flavin-dependent histone demethylase that specifically demethylates mono- and dimethylated lysine 4 of histone H3 (H3K4me1/me2). It acts as a transcriptional repressor by removing activating histone marks and is involved in chromatin regulation, cell differentiation, and genomic imprinting. KDM1B is widely expressed and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of KDM1B may promote tumor growth by altering H3K4 methylation at oncogene promoters | PMID: 23431136 |
| Acute myeloid leukemia | KDM1B interacts with co-repressor complexes to silence tumor suppressor genes | PMID: 27325183 |
| Intellectual disability | Missense mutations in KDM1B impair demethylase activity and neuronal gene regulation | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Testis | 8.9 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.1 | Medium expression |
| MCF7 | 11.7 | Medium expression |
| K562 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Reduced demethylase activity |
| c.567_569del (p.Lys189del) | Deletion | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.05% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the flavin-binding site or catalytic domain reduce or abolish demethylase activity.
Gain of Function (GOF)
Not well documented; no recurrent gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type KDM1B function in dimeric complexes.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K4 demethylation | • Chromatin organization |
| • Transcription corepressor activity | • Flavin adenine dinucleotide binding |
| • Nucleus |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by histone demethylation
Protein Summary
KDM1B is a 822-amino acid flavin-dependent histone demethylase that specifically removes methyl groups from H3K4me1/me2. It contains a SWIRM domain and an amine oxidase domain. The protein localizes to the nucleus and forms complexes with co-repressors to regulate gene expression. KDM1B is essential for normal development and its dysregulation contributes to cancer and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM1B Knockout HEK293 Cell Line | EDJ-KQ2599 | Human | 221656 | Details Get a Quote |
| KDM1B Knockout A-549 Cell Line | EDJ-KQ23302 | Human | 221656 | Details Get a Quote |
| KDM1B Knockout HCT 116 Cell Line | EDJ-KQ23303 | Human | 221656 | Details Get a Quote |
| KDM1B Knockout HeLa Cell Line | EDJ-KQ23304 | Human | 221656 | Details Get a Quote |
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