NCAPH
Non-SMC Condensin I Complex Subunit H
Gene Information Card
| Symbol | NCAPH |
|---|---|
| Full Name | Non-SMC Condensin I Complex Subunit H |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 23397 ncbi.nlm.nih.gov/gene/23397 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | Q15003 |
| OMIM ID | 602332 |
| HGNC ID | 23292 |
| Aliases | BRRN1, CAP-H, hCAP-H, MCPH21 |
Description
NCAPH encodes a regulatory subunit of the condensin I complex, which is essential for chromosome condensation and segregation during mitosis. The protein localizes to chromosomes during prophase and is required for proper mitotic progression. Mutations in NCAPH are associated with microcephaly and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, primary, autosomal recessive 21 (MCPH21) | Loss-of-function mutations impair condensin I function, leading to defective chromosome condensation and reduced brain size | OMIM #617983; ClinVar |
| Breast cancer | Overexpression and amplification of NCAPH contribute to chromosomal instability and tumor progression | COSMIC; PubMed studies |
| Colorectal cancer | Upregulation of NCAPH correlates with poor prognosis and increased proliferation | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | High expression; consistent with mitotic role |
| K562 | 18.7 | Moderate expression |
| HEK293 | 14.5 | Moderate expression |
| MCF7 | 22.3 | High expression; associated with breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of function |
| c.1072G>A (p.Glu358Lys) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NCAPH cause haploinsufficiency, leading to microcephaly (MCPH21).
Gain of Function (GOF)
Amplification or overexpression of NCAPH in cancers may confer a gain-of-function by promoting hyper-condensation and genomic instability.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with condensin I complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • condensin complex (GO:0000776) | • nucleus (GO:0005634) |
| • chromosome (GO:0005694) | • mitotic chromosome condensation (GO:0007076) |
| • protein binding (GO:0005515) |
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Mitotic Prophase (Reactome: R-HSA-68875)
• Condensation of Prophase Chromosomes (Reactome: R-HSA-2299718)
Protein Summary
NCAPH (CAP-H) is a 720-amino-acid protein that forms part of the condensin I complex. It contains a HEAT repeat domain and is essential for ATP-dependent chromosome compaction. The protein is phosphorylated during mitosis, regulating its association with chromatin. NCAPH is highly expressed in proliferating tissues and is frequently upregulated in cancers.
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