HCLS1-associated protein X-1 Recombinant Protein | HAX1 recombinant protein

Recombinant human HCLS1-associated protein X-1

Cat. Num. AAA717069

• Gene Names: HAX1; SCN3; HS1BP1; HCLSBP1
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: HCLS1-associated protein X-1; Recombinant human HCLS1-associated protein X-1; HAX1 recombinant protein

• Host: E Coli
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Liquid containing glycerol
• Sequence: SLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPR

• Preparation and Storage: 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.

SDS-PAGE

Related Product Information for HAX1 recombinant protein

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 and Uniprot Product Information

• NCBI GI #: 66363692
• NCBI GeneID: 10456
• NCBI Accession #: NP_006109.2
• NCBI GenBank Nucleotide #: NM_006118.3
• UniProt Accession #: O00165; Q5VYD5; Q5VYD7; Q96AU4; Q9BS80; A8W4W9; A8W4X0; B4DUJ7
• Molecular Weight: 53kD
• NCBI Official Full Name: Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA
• NCBI Official Synonym Full Names: HCLS1 associated protein X-1
• NCBI Official Symbol: HAX1
• NCBI Official Synonym Symbols: SCN3; HS1BP1; HCLSBP1
• NCBI Protein Information: 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
• UniProt Protein Name: HCLS1-associated protein X-1
• Protein Family: HCLS1-associated protein
• UniProt Gene Name: HAX1
• UniProt Synonym Gene Names: HS1BP1; HAX-1; HSP1BP-1
• UniProt Entry Name: HAX1_HUMAN

NCBI Description

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 Description

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.