| Tbio | HCLS1-associated protein X-1 |
Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| NCBI Gene PubMed Count | 76 |
| Grant Count | 38 |
| R01 Count | 31 |
| Funding | $2,378,110.21 |
| PubMed Score | 99.20 |
| PubTator Score | 128.48 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | -1.300 | 0.000 |
| glioblastoma | -1.400 | 0.000 |
| medulloblastoma, large-cell | -1.500 | 0.000 |
| diabetes mellitus | -1.200 | 0.004 |
| adult high grade glioma | -1.500 | 0.000 |
| group 4 medulloblastoma | -1.100 | 0.008 |
| non primary Sjogren syndrome sicca | 1.200 | 0.039 |
| PMID | Text |
|---|---|
| 26997484 | Kv3.3 regulates Arp2/3-dependent cortical actin nucleation mediated by Hax-1; resulting cortical actin structures interact with the channel's gating machinery to slow its inactivation rate during sustained membrane depolarizations; a mutation that leads to late-onset spinocerebellar ataxia type 13. |
| 26339377 | HAX-1 is overexpressed in hepatocellular carcinoma and promotes cell proliferation. |
| 26323553 | Results show that mRNA and protein levels of HAX-1 in prostate cancer cell lines were significantly higher and inhibits cell apoptosis through caspase-9 inactivation. |
| 26062578 | HAX1 knockdown significantly decreased the proliferation. In addition, the expression levels of ki67 and phosphorylatedakt were inhibited following HAX1 knockdown. |
| 25554539 | HAX-1 was significantly elevated in laryngeal carcinoma. |
| 25419709 | HAX1 is a proto-oncogene in mantle cell lymphoma. |
| 25289648 | HAX-1 is involved in mRNA processing as an element of P-body interaction network. |
| 25284454 | HAX1 mutation is associated with severe congenital neutropenia. |
| 25275296 | Authors showed that HAX1 promotes auto-ubiquitination and degradation of cIAPs by facilitating the intermolecular homodimerization of RING finger domain. |
| 24910348 | anti-apoptotic role of HAX-1 versus BCL-XL in cytokine-dependent bone marrow-derived cells |
| More... |
MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPG 1 - 70 GGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRI 71 - 140 FGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKS 141 - 210 ISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR 211 - 279 //
| PMID | Year | Title |
|---|---|---|
| 26997484 | 2016 | Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating. |
| 26871637 | 2016 | Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. |
| 26339377 | 2015 | HAX-1 is overexpressed in hepatocellular carcinoma and promotes cell proliferation. |
| 26323553 | 2015 | HAX-1 inhibits apoptosis in prostate cancer through the suppression of caspase-9 activation. |
| 26062578 | 2015 | Expression of HAX-1 in colorectal cancer and its role in cancer cell growth. |
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 25554539 | 2015 | Clinical significance of HAX-1 expression in laryngeal carcinoma. |
| 25419709 | 2014 | Disruption of the PRKCD-FBXO25-HAX-1 axis attenuates the apoptotic response and drives lymphomagenesis. |
| 25289648 | 2015 | HAX-1: a novel p-body protein. |
| 25284454 | 2015 | Genetic analysis and clinical picture of severe congenital neutropenia in Israel. |
| More... |
