Tbio HAX1 HCLS1-associated protein X-1

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• O00165
• A8W4W9
• A8W4X0
• B4DUJ7
• Q5VYD5
• Q5VYD7
• Q96AU4
• Q9BS80

Gene Name

• HAX1

Ensembl ID

• ENST00000328703
• ENSP00000329002
• ENSG00000143575
• ENST00000447768
• ENSP00000403848
• ENST00000457918
• ENSP00000411448
• ENST00000483970
• ENSP00000435088

Symbol

• HS1BP1
• SCN3
• HS1BP1
• HCLSBP1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
kinase perturbation	0.97
interacting protein	0.96
biological process	0.9
histone modification site profile	0.89

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.33   (req: < 5)

Gene RIFs: 102   (req: <= 3)

Antibodies: 457   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 163.33   (req: >= 5)

Gene RIFs: 102   (req: > 3)

Antibodies: 457   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0