background:
RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.
Function:
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.
Subunit:
Interacts with ABCB1, ABCB4 and ABCB11 (By similarity). Directly associates with HCLS1/HS1, through binding to its N-terminal region. Interacts with CTTN. Interacts with PKD2. Interacts with GNA13. Interacts with CASP9. Interacts with ITGB6. Interacts with PLN and ATP2A2; these interactions are inhibited by calcium. Interacts with GRB7. Interacts (via SLCterminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4.
Subcellular Location:
Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle (By similarity). Sarcoplasmic reticulum (By similarity).
Tissue Specificity:
Ubiquitous. Up-regulated in oral cancers.
Post-translational modifications:
Proteolytically cleaved by caspase-3 during apoptosis.
DISEASE:
Defects in HAX1 are the cause of neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738]; also known as Kostmann disease. A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. Note=The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms.
Similarity:
Belongs to the HAX1 family.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
HAX1蛋白在线粒体蛋白广泛表达，是一种抗凋亡蛋白，与bel-2有相似的机制。
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