| 简介 | 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]
Diseases associated with HAX1 include Neutropenia, Severe Congenital, 3, Autosomal Recessive and Severe Congenital Neutropenia 3. Among its related pathways is Primary ovarian insufficiency. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and interleukin-1 binding.
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.
Mitochondrion matrix {ECO:0000269 PubMed:18971376, 9058808}
Endoplasmic reticulum {ECO:0000269 PubMed:18971376, 9058808}
Nucleus membrane {ECO:0000269 PubMed:9058808}
Cytoplasmic vesicle {ECO:0000250 UniProtKB:O35387}
Cytoplasm, cell cortex {ECO:0000269 PubMed:26997484}
Cell membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000269 PubMed:26997484}
Sarcoplasmic reticulum {ECO:0000250 UniProtKB:Q7TSE9}
Cytoplasm, P-body {ECO:0000269 PubMed:23164465}
[Isoform 1]
Cytoplasm {ECO:0000269 PubMed:23164465, 25298122}
Nucleus {ECO:0000269 PubMed:23164465}
Note: Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited, and in response to cellular stress caused by arsenite (in vitro) {ECO:0000269 PubMed:23164465}
[Isoform 3]
Cytoplasm {ECO:0000269 PubMed:23164465}
Nucleus {ECO:0000269 PubMed:23164465}
Note: Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited (in vitro) {ECO:0000269 PubMed:23164465}
[Isoform 4]
Cytoplasm {ECO:0000269 PubMed:23164465}
Nucleus {ECO:0000269 PubMed:23164465}
Note: Shuttles between nucleus and cytoplasm {ECO:0000269 PubMed:23164465}
[Isoform 5]
Cytoplasm {ECO:0000269 PubMed:23164465}
Note: Predominantly cytoplasmic {ECO:0000269 PubMed:23164465}
Quaternary structure:
Interacts with ABCB1, ABCB4 and ABCB11 (By similarity).
Directly associates with HCLS1/HS1, through binding to its N-terminal region (PubMed:9058808).
Interacts with CTTN (By similarity).
Interacts with PKD2 (PubMed:10760273).
Interacts with GNA13 (PubMed:15339924).
Interacts with CASP9 (PubMed:16857965).
Interacts with ITGB6 (PubMed:17545607).
Interacts with PLN and ATP2A2; these interactions are inhibited by calcium (PubMed:17241641, 18971376).
Interacts with GRB7 (PubMed:20665473).
Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4 (PubMed:20171186).
Interacts with TPC2 (PubMed:24188827).
Interacts with KCNC3 (PubMed:26997484).
Interacts with XPO1 (PubMed:23164465).
Interacts with RNF217 (PubMed:25298122).
Interacts with UCP3; the interaction is direct and calcium-dependent (PubMed:26915802). |
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