HAX1
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Official Full Name
HCLS1 associated protein X-1 -
Overview
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. -
Synonyms
HAX1;HCLS1 associated protein X-1;HCLS1-associated protein X-1;HCLS1 (and PKD2) associated protein;HCLSBP1;HS1BP1;FLJ17042;FLJ18492;FLJ93803;HAX 1;Hax1a;HCLS1 and PKD2 associated protein;HCLS1 associated protein;HCLS1 associated protein X 1;HS 1 associated protein X 1;HS 1 binding protein;HS1 associating protein X 1;HS1 binding protein 1;HS1 binding protein;OTTHUMP00000034190;SCN3;HAX-1;HSP1BP-1;HS1-binding protein 1;HS1-associating protein X-1
Recombinant Proteins
- Human
- Rhesus macaque
- Rat
- Zebrafish
- Mouse
- E.coli
- Mammalian Cell
- Wheat Germ
- HEK293
- HEK293T
- In Vitro Cell Free System
- GST
- His
- Non
- His&Fc&Avi
- Myc&DDK
Involved Pathway
HAX1 involved in several pathways and played different roles in them. We selected most pathways HAX1 participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with HAX1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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Protein Function
HAX1 has several biochemical functions, for example, interleukin-1 binding,protein N-terminus binding,protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by HAX1 itself. We selected most functions HAX1 had, and list some proteins which have the same functions with HAX1. You can find most of the proteins on our site.
Function | Related Protein |
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protein N-terminus binding | CSNK2A1,ZWINT,LACRT,NPAT,PPP1CC,KCNB1,TAF11,ERCC3,STX5A,SERPINB1A |
protein binding | CTSG,PPP1R16B,GM5506,PPP3R2,ACAA2,SIL1,PSEN2,SERPINA3K,SEPT10,ADARB1 |
interleukin-1 binding | TRIM16,A2M |
Interacting Protein
HAX1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with HAX1 here. Most of them are supplied by our site. Hope this information will be useful for your research of HAX1.
vpr;TPCN2;MAPK10;ESR1;TPCN1;GRB7;a8k1f4_human;XPO1;Abcb11
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References
- Laffleur, B; Duchez, S; et al. Self-Restrained B Cells Arise following Membrane IgE Expression. CELL REPORTS 10:900-909(2015).
- Wortmann, SB; Zietkiewicz, S; et al. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. AMERICAN JOURNAL OF HUMAN GENETICS 96:245-257(2015).