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.
Categories
Primary Antibodies
Clonality
polyclonal
Description
Promotes cell survival. Potentiates 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. May regulate intracellular calcium pools.
Host
Rabbit
Immunogen
HCLS1 associated protein X-1
Isotype
IgG
Molecular Weight
36 kDa
Reactivity
Human, Mouse
Regulatory
RUO
Synonyms
FLJ17042, FLJ18492, FLJ93803, HAX 1, HAX1, HCLS1 associated protein X 1, HCLSBP1, HS1 associating protein X 1, HS1 binding protein 1, HS1BP1, HSP1BP 1, SCN3
Uniprot
O00165
Gene Id
10456
Research Area
Cell Division and Proliferation, Epigenetics, Cancer, Metabolism
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)