======= HAX1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HAX1
  * **<color #00a2e8>Official Name</color>**: HCLS1 associated protein X-1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10456|10456]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O00165|O00165]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HAX1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HAX1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605998|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:15339924, ECO:0000269|PubMed:16857965, ECO:0000269|PubMed:17545607, ECO:0000269|PubMed:18319618, ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:26997484, ECO:0000269|PubMed:9058808}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|interleukin-1 binding|
|positive regulation of granulocyte differentiation|
|regulation of granulocyte differentiation|
|positive regulation of actin cytoskeleton reorganization|
|regulation of actin cytoskeleton reorganization|
|regulation of autophagy of mitochondrion|
|sarcoplasmic reticulum|
|regulation of protein targeting to mitochondrion|
|positive regulation of myeloid leukocyte differentiation|
|regulation of establishment of protein localization to mitochondrion|
|mitochondrial intermembrane space|
|regulation of protein targeting|
|P-body|
|positive regulation of phosphatidylinositol 3-kinase signaling|
|positive regulation of myeloid cell differentiation|
|positive regulation of peptidyl-serine phosphorylation|
|protein N-terminus binding|
|regulation of myeloid leukocyte differentiation|
|regulation of phosphatidylinositol 3-kinase signaling|
|cell cortex|
|regulation of peptidyl-serine phosphorylation|
|positive regulation of leukocyte differentiation|
|mitochondrial outer membrane|
|positive regulation of protein kinase B signaling|
|regulation of actin filament polymerization|
|lamellipodium|
|nuclear envelope|
|regulation of mitochondrion organization|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|positive regulation of hemopoiesis|
|positive regulation of peptidyl-tyrosine phosphorylation|
|transcription factor complex|
|actin cytoskeleton|
|positive regulation of cytoskeleton organization|
|regulation of protein kinase B signaling|
|regulation of protein polymerization|
|regulation of myeloid cell differentiation|
|regulation of intracellular protein transport|
|nuclear membrane|
|cytoplasmic vesicle|
|regulation of peptidyl-tyrosine phosphorylation|
|regulation of actin filament organization|
|regulation of leukocyte differentiation|
|regulation of autophagy|
|regulation of actin cytoskeleton organization|
|regulation of intracellular transport|
|regulation of supramolecular fiber organization|
|regulation of cellular component size|
|regulation of actin filament-based process|
|mitochondrion organization|
|regulation of hemopoiesis|
|regulation of protein complex assembly|
|regulation of anatomical structure size|
|regulation of cellular protein localization|
|regulation of cytoskeleton organization|
|positive regulation of organelle organization|
|regulation of protein transport|
|regulation of peptide transport|
|regulation of establishment of protein localization|
|regulation of cellular catabolic process|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|regulation of cellular localization|
|regulation of cellular component biogenesis|
|positive regulation of cell differentiation|
|negative regulation of cell death|
|regulation of catabolic process|
|cellular response to cytokine stimulus|
|endoplasmic reticulum|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|regulation of protein localization|
|positive regulation of phosphorylation|
|response to cytokine|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of immune system process|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of protein modification process|
|mitochondrion|
|regulation of organelle organization|
|positive regulation of developmental process|
|regulation of protein phosphorylation|
|positive regulation of transcription, DNA-templated|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of immune system process|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|regulation of transport|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp504|MK2206 4μM R08 exp504]]|-1.74|
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.74|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15676
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HAX1 Expression in NALM6 Cells: 6.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>