Gene table of HAX1 : HCLS1 associated protein X-1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HAX1	OMIM link	Number of associated genes	genes
PS202700	NEUTROPENIA, SEVERE CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	ELANE, HAX1, WAS, GFI1, JAGN1, VPS45, G6PC3

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Annotation of the gene HAX1

Associated genes in ENSEMBL

ENSG00000143575

Associated proteins - SwissProt Accession ID

O00165

Associated PDB IDs

Cytogenetic Band

1q21.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

ATP2A2

It is regulated by the following TF:

NFKB1

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
interleukin-1 binding	GO:0019966	7.79
protein N-terminus binding	GO:0047485	5.11
cytokine binding	GO:0019955	5.21
growth factor binding	GO:0019838	4.89
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46