HAX1 (HCLS1 associated protein X-1)

2009-06-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
HCLSBP1,HS1BP1,SCN3

Other Information

Locus ID:

NCBI: 10456
MIM: 605998
HGNC: 16915
Ensembl: ENSG00000143575

Variants:

dbSNP: 10456
ClinVar: 10456
TCGA: ENSG00000143575
COSMIC: HAX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143575ENST00000328703O00165
ENSG00000143575ENST00000328703A0A0S2Z591
ENSG00000143575ENST00000435087Q5VYD6
ENSG00000143575ENST00000447768O00165
ENSG00000143575ENST00000457918O00165
ENSG00000143575ENST00000457918A0A0S2Z565
ENSG00000143575ENST00000483970O00165
ENSG00000143575ENST00000532105E9PIQ7

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171870682007HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).105
153399242004Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1.52
168579652006Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition.49
189713762009The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival.34
195246422009HAX-1: a multifunctional protein with emerging roles in human disease.34
169714862006Intracellular IL-1alpha-binding proteins contribute to biological functions of endogenous IL-1alpha in systemic sclerosis fibroblasts.30
183375612008Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.27
201968402010HAX-1 overexpression, splicing and cellular localization in tumors.26
151593852004Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells.25
215187912011Hax1 regulates neutrophil adhesion and motility through RhoA.22

Citation

Dessen P

HAX1 (HCLS1 associated protein X-1)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50953/hax1