ID:HAX1_HUMAN DESCRIPTION: RecName: Full=HCLS1-associated protein X-1; AltName: Full=HS1-associating protein X-1; Short=HAX-1; AltName: Full=HS1-binding protein 1; Short=HSP1BP-1; 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 C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4. INTERACTION: P03372:ESR1; NbExp=2; IntAct=EBI-357001, EBI-78473; Q14451:GRB7; NbExp=2; IntAct=EBI-357001, EBI-970191; SUBCELLULAR LOCATION: Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle (By similarity). Sarcoplasmic reticulum (By similarity). TISSUE SPECIFICITY: Ubiquitous. Up-regulated in oral cancers. PTM: 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. WEB RESOURCE: Name=HAX1base; Note=HAX1 mutation db; URL="http://bioinf.uta.fi/HAX1base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00165
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling GO:0030833 regulation of actin filament polymerization GO:0030854 positive regulation of granulocyte differentiation GO:0033138 positive regulation of peptidyl-serine phosphorylation GO:0042981 regulation of apoptotic process GO:0043066 negative regulation of apoptotic process GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation GO:0051897 positive regulation of protein kinase B signaling GO:0071345 cellular response to cytokine stimulus GO:1903146 regulation of mitophagy GO:1903214 regulation of protein targeting to mitochondrion GO:2000251 positive regulation of actin cytoskeleton reorganization GO:0007005 mitochondrion organization
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
