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| Cat.No | ACP21669 | Target Name | HAX1 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 2-279 | Protein Length | Full Length of Mature Protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | O00165 |
|---|
Uniprot Id
O00165
Target Species
Human
Target Name
HAX1
Target Full Name
HCLS1-associated protein X-1
Target Function
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. Slows down the rate of inactivation of KCNC3 channels. 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.
Target Involvement
Neutropenia, severe congenital 3, autosomal recessive (SCN3)
Target Subcellular Location
Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle. Cytoplasm, cell cortex. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Sarcoplasmic reticulum. Cytoplasm, P-body.; [Isoform 1]: Cytoplasm. Nucleus.; [Isoform 3]: Cytoplasm. Nucleus.; [Isoform 4]: Cytoplasm. Nucleus.; [Isoform 5]: Cytoplasm.
Target Protein Families
HAX1 family
Target Tissue Specificity
Ubiquitous. Up-regulated in oral cancers.
Target Synonyms
FLJ17042; FLJ18492; FLJ93803; HAX 1; HAX-1; HAX1; HAX1_HUMAN; Hax1a; HCLS1 and PKD2 associated protein; HCLS1 associated protein; HCLS1 associated protein X 1; HCLS1-associated protein X-1; HCLSBP1; HS 1 associated protein X 1; HS 1 binding protein; HS1 associating protein X 1; HS1 binding protein 1; HS1 binding protein; HS1-associating protein X-1; HS1-binding protein 1; HS1BP1; HSP1BP-1; OTTHUMP00000034190 ; SCN3
Target Background
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.
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