Anti-HAX1 Antibody (CAB5551)
- SKU:
- CAB5551
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| Antibody Name: | Anti-HAX1 Antibody |
| Antibody SKU: | CAB5551 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB IHC IF |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-279 of human HAX1 (NP_006109.2). |
| Application: | WB IHC IF |
| Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:10 - 1:100 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | K-562, MCF7, NCI-H460, SH-SY5Y, HepG2, 293T, Mouse kidney, Mouse brain, Rat testis |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-279 of human HAX1 (NP_006109.2). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MSLF DLFR GFFG FPGP RSHR DPFF GGMT RDED DDEE EEEE GGSW GRGN PRFH SPQH PPEE FGFG FSFS PGGG IRFH DNFG FDDL VRDF NSIF SDMG AWTL PSHP PELP GPES ETPG ERLR EGQT LRDS MLKY PDSH QPRI FGGV LESD ARSE SPQP APDW GSQR PFHR FDDV WPMD PHPR TRED NDLD SQVS QEGL GPVL QPQP KSYF KSIS VTKI TKPD GIVE ERRT VVDS EGRT ETTV TRHE ADSS PRGD PESP RPPA LDDA FSIL DLFL GRWF RSR |
| Gene ID: | 10456 |
| Uniprot: | O00165 |
| Cellular Location: | Cytoplasmic vesicle, Endoplasmic reticulum, Mitochondrion, Nucleus membrane, Sarcoplasmic reticulum |
| Calculated MW: | 14kDa/21kDa/26kDa/28kDa/31kDa/32kDa |
| Observed MW: | 36kDa |
| Synonyms: | HAX1, HCLSBP1, HS1BP1, SCN3 |
| Background: | 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. |
| UniProt Protein Function: | HAX1: 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. Defects in HAX1 are the cause of neutropenia severe congenital autosomal recessive type 3 (SCN3); 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 10(9)/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. 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. Belongs to the HAX1 family. 6 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Endoplasmic reticulum; Apoptosis; Vesicle; Mitochondrial Chromosomal Location of Human Ortholog: 1q21.3 Cellular Component: transcription factor complex; nuclear membrane; mitochondrion; clathrin-coated vesicle; sarcoplasmic reticulum; lamellipodium; endoplasmic reticulum; apical plasma membrane; nuclear envelope; actin cytoskeleton Molecular Function:protein domain specific binding; protein binding; protein N-terminus binding; interleukin-1 binding Biological Process: regulation of apoptosis; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein kinase B signaling cascade; regulation of actin filament polymerization; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of granulocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of peptidyl-serine phosphorylation Disease: Neutropenia, Severe Congenital, 3, Autosomal Recessive |
| 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 Code: | O00165 |
| NCBI GenInfo Identifier: | 20141308 |
| NCBI Gene ID: | 10456 |
| NCBI Accession: | O00165.2 |
| UniProt Secondary Accession: | O00165,Q5VYD5, Q5VYD7, Q96AU4, Q9BS80, A8W4W9, A8W4X0 B4DUJ7, |
| UniProt Related Accession: | O00165 |
| Molecular Weight: | 279 |
| NCBI Full Name: | HCLS1-associated protein X-1 |
| NCBI 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 |
| UniProt Synonym Protein Names: | HS1-associating protein X-1; HAX-1; HS1-binding protein 1; HSP1BP-1 |
| Protein Family: | HCLS1-associated protein |
| UniProt Gene Name: | HAX1 |
| UniProt Entry Name: | HAX1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using HAX1 antibody (CAB5551) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s. |
 | Immunohistochemistry of paraffin-embedded mouse heart using HAX1 antibody (CAB5551) at dilution of 1:100 (40x lens). |
 | Immunofluorescence analysis of A549 cells using HAX1 antibody (CAB5551). Blue: DAPI for nuclear staining. |
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