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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
General
mitochondrial protein
Properties
SIZE: entity length = 279 aa
MW = 32 kD
COMPARTMENT: mitochondria
cytoplasm
cell nucleus
endoplasmic reticulum
MOTIF: mitochondrial localization {2-41}
acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
acidic region {30-40}
MOTIF: acidic residue (SEVERAL)
HCLS1 binding {114-279}
MOTIF: proteolytic site {127-128}
CASP9 binding {175-206}
GNA13 binding {176-247}
SR localization {183-279}
PKD2 binding {184-279}
ATP2A2 binding {203-245}
PLN binding {203-225}
ITGB6 binding {270-279}
Database Correlations
OMIM correlations
MORBIDMAP 605998
UniProt O00165
Entrez Gene 10456
Kegg hsa:10456
References
- UniProt :accession O00165
- HAX1base; Note: HAX1 mutation db
http://bioinf.uta.fi/HAX1base/