HAUS8: Augmin Complex Component and Microtubule Regulator
Essential for mitotic spindle assembly and centrosome integrity
Gene Information Card
| Symbol | HAUS8 |
|---|---|
| Full Name | HAUS Augmin Like Complex Subunit 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 93323 ncbi.nlm.nih.gov/gene/93323 |
| Ensembl ID | ENSG00000131351 |
| UniProt ID | Q9BT25 |
| OMIM ID | 613183 |
| HGNC ID | 25162 |
| Aliases | HICE1, DKFZp434B0411 |
Description
HAUS8 (HAUS Augmin Like Complex Subunit 8) encodes a component of the augmin complex, which is essential for microtubule nucleation from the mitotic spindle. The augmin complex recruits the γ-tubulin ring complex to non-centrosomal microtubules, promoting spindle assembly and stability. HAUS8 is required for proper chromosome segregation and cell division. Defects in this gene are associated with microcephaly and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly | Loss-of-function mutations impair mitotic spindle formation, leading to reduced neuronal progenitor proliferation | PMID: 28886341 |
| Breast cancer | Overexpression contributes to chromosomal instability and aneuploidy | PMID: 23431136 |
| Colorectal cancer | Amplification and overexpression linked to poor prognosis | PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 7.1 | Low |
| Brain | 6.4 | Low |
| Ovary | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 10.8 | Leukemia cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| HCT116 | 7.3 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1550A>G (p.Tyr517Cys) | Missense | Rare | Unknown significance; reported in cancer |
| c.1843G>A (p.Glu615Lys) | Missense | Rare | Unknown significance; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg358*) cause premature truncation, impairing augmin complex assembly and microtubule nucleation.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Augmin-mediated microtubule nucleation (Reactome: R-HSA-380259)
• Mitotic spindle assembly (Reactome: R-HSA-68877)
Protein Summary
HAUS8 is a 684-amino acid protein that localizes to the mitotic spindle and centrosome. It is a core subunit of the augmin complex, which binds to existing microtubules and recruits the γ-tubulin ring complex to generate new microtubules. This process is critical for spindle bipolarity and chromosome congression. HAUS8 contains a conserved N-terminal domain and a C-terminal region involved in complex interactions.
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