HCLS1-associated protein X-1; HS1-associating protein X-1; HAX-1; HS1-binding protein 1; HSP1BP-1 (HAX1 HS1BP1)

Function

• promotes cell survival
• potentiates GNA13-mediated cell migration
• role in clathrin-mediated endocytosis pathway
• may be involved in internalization of ABC transporters such as ABCB11
• may inhibit CASP9 & CASP3
• may regulate intracellular Ca+2 pools
• proteolytically cleaved by caspase-3 during apoptosis
• interacts with ABCB1, ABCB4 & ABCB11 (putative)
• 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 & ATP2A2; interactions are inhibited by Ca+2

Structure

belongs to the HAX1 family

Compartment

• mitochondria
• endoplasmic reticulum, sarcoplasmic reticulum (putative)
• nuclear membrane
• cytoplasmic vesicle (putative)

Alternative splicing

• named isoforms=6
• additional isoforms seem to exist

Expression

• ubiquitous
• up-regulated in oral cancers

Pathology

• defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia type 3

More general terms

• mitochondrial protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10456
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10456
• OMIM: https://mirror.omim.org/entry/605998
• OMIM: https://mirror.omim.org/entry/610738
• UniProt: http://www.uniprot.org/uniprot/O00165.html