Family

HS1-associating protein X-1 (IPR017248)

Short name: HAX-1

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

HS1-associating protein X-1 (HAX-1) promotes cell survival [PMID: 9058808] and is involved in the clathrin-mediated endocytosis pathway [PMID: 17545607]. It has been implicated in severe congenital neutropenia (SCN), neurological disorders and cancer [PMID: 21391832]. The voltage-dependent Kv3.3 potassium channel has been shown to bind to HAX-1 to induce Arp2/3 (actin-related protein 2/3 complex) dependent actin filament nucleation at the plasma membrane [PMID: 26997484].

Mutations in HAX-1 gene cause neutropenia, severe congenital 3, autosomal recessive (SCN3), which is a disorder of hematopoiesis characterised 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 [PMID: 17187068].

GO terms

Biological Process

GO:0043066 negative regulation of apoptotic process

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
PIRSF