Rabbit anti-Human HAX1 Polyclonal Antibody

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.