Recombinant human HCLS1-associated protein X-1 | MyBioSource MBS717069 product information

product summary

company name :

MyBioSource

product type :

protein

product name :

Recombinant human HCLS1-associated protein X-1

catalog :

MBS717069

quantity :

0.05 mg

price :

195 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS717069

products type :

Recombinant Protein

products full name :

Recombinant human HCLS1-associated protein X-1

products short name :

HCLS1-associated protein X-1

other names :

Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA; HCLS1-associated protein X-1; HCLS1-associated protein X-1; HAX-1; HSP1BP-1; HS1 binding protein; HS1-binding protein 1; HS1-associating protein X-1; HCLS1 (and PKD2) associated protein; HCLS1 associated protein X-1; HS1-associating protein X-1; HAX-1; HS1-binding protein 1

other gene names :

HAX1; HAX1; SCN3; HS1BP1; HCLSBP1; HS1BP1; HAX-1; HSP1BP-1

uniprot entry name :

HAX1_HUMAN

host :

E Coli

sequence :

SLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEE
GGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNF
GFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGER
LREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPA
PDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGL
GPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGR
TETTVTRHEADSSPR

storage stability :

Store at -20 degree C. For extended storage, conserve at -20 or -80 degree C. Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

products description :

Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools.

ncbi gi num :

66363692

ncbi acc num :

NP_006109.2

ncbi gb acc num :

NM_006118.3

uniprot acc num :

O00165

ncbi mol weight :

53kD

ncbi summary :

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. [provided by RefSeq, Jul 2008]

uniprot summary :

Function: Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools. Ref.1 Ref.10 Ref.11 Ref.12 Ref.16 Ref.17. Subunit structure: Interacts with ABCB1, ABCB4 and ABCB11 . By similarity. 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 and ATP2A2; these interactions are inhibited by calcium. Interacts with GRB7. Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4. Ref.1 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.17 Ref.18 Ref.20. Subcellular location: Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle . By similarity. Sarcoplasmic reticulum . By similarity Ref.1 Ref.17. Tissue specificity: Ubiquitous. Up-regulated in oral cancers. Ref.1 Ref.12. Post-translational modification: Proteolytically cleaved by caspase-3 during apoptosis. Ref.8 Ref.16. Involvement in disease: Defects in HAX1 are the cause of neutropenia severe congenital autosomal recessive type 3 (SCN3) [. MIM:610738]; also known as Kostmann disease. A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 109/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. Note=The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms. Ref.14 Ref.15 Ref.21 Ref.22. Sequence similarities: Belongs to the HAX1 family.

size1 :

0.05 mg

price1 :

195 USD

size2 :

0.2 mg

price2 :

465

size3 :

0.5 mg

price3 :

815

size4 :

1 mg

price4 :

1290

more info or order :

MyBioSource product webpage