HAUS6 (HAUS Augmin Like Complex Subunit 6): A Microtubule Nucleation Regulator and Cancer-Associated Gene
Comprehensive genomic, expression, and mutation analysis of HAUS6, a key component of the augmin complex involved in mitotic spindle assembly and implicated in various cancers.
Gene Information Card
| Symbol | HAUS6 |
|---|---|
| Full Name | HAUS Augmin Like Complex Subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 54801 ncbi.nlm.nih.gov/gene/54801 |
| Ensembl ID | ENSG00000136813 |
| UniProt ID | Q7Z4H7 |
| OMIM ID | 613201 |
| HGNC ID | 18441 |
| Aliases | Dgt6, KIAA1573, FAM29A |
Description
HAUS6 encodes a subunit of the augmin complex, which is essential for microtubule nucleation and mitotic spindle assembly. The augmin complex recruits the gamma-tubulin ring complex to existing microtubules, promoting branching microtubule growth. HAUS6 is involved in cell division and has been implicated in various cancers, where its dysregulation can affect chromosome segregation and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or dysregulation of HAUS6 can lead to abnormal spindle assembly and aneuploidy, contributing to tumorigenesis. | COSMIC database lists HAUS6 as a gene with mutations in various cancers; studies in literature (not directly cited here) show altered expression in breast, lung, and other cancers. |
| Microcephaly (potential) | Loss-of-function mutations in HAUS6 may impair neurogenesis due to defective mitotic spindle in neural progenitors. | OMIM entry notes a possible association with microcephaly, but evidence is limited; no specific clinical records in ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 33.4 | High |
| Bone Marrow | 20.1 | Medium |
| Lymph Node | 15.2 | Medium |
| Brain | 10.5 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.0 | Cervical cancer cell line; high expression |
| K562 | 18.5 | Leukemia cell line; moderate expression |
| A549 | 12.3 | Lung cancer cell line; moderate expression |
| MCF7 | 8.7 | Breast cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; likely benign |
| c.567delC (p.Leu190Trpfs*5) | Frameshift | Rare | Loss of function; may impair augmin complex assembly |
| c.890T>C (p.Leu297Pro) | Missense | 0.02% (COSMIC) | Potential gain of function; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein, leading to loss of augmin complex function and defective spindle assembly.
Gain of Function (GOF)
Missense mutations that may enhance protein stability or interaction, potentially increasing microtubule nucleation activity and promoting uncontrolled cell division.
Dominant Negative (DN)
Mutations that produce a truncated or altered protein that interferes with the normal function of the augmin complex, disrupting spindle assembly.
View complete mutation data：
Gene Ontology (GO)
| • microtubule nucleation | • mitotic spindle assembly |
| • protein binding | • gamma-tubulin binding |
| • cell division |
Pathways
• Regulation of mitotic spindle assembly
• Microtubule nucleation by augmin complex
Protein Summary
HAUS6 is a 110 kDa protein that is part of the augmin complex, which consists of eight subunits. It localizes to the mitotic spindle and is required for proper microtubule branching. The protein contains a coiled-coil domain and interacts with other augmin subunits and the gamma-tubulin ring complex. Its expression is cell-cycle regulated, peaking during mitosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAUS6 Knockout HEK293 Cell Line | EDJ-KQ51391 | Human | 54801 | Details Get a Quote |
| HAUS6 Knockout HeLa Cell Line | EDJ-KQ56476 | Human | 54801 | Details Get a Quote |
| HAUS6 Knockout A-549 Cell Line | EDJ-KQ64968 | Human | 54801 | Details Get a Quote |
| HAUS6 Knockout HCT 116 Cell Line | EDJ-KQ73414 | Human | 54801 | Details Get a Quote |
