Overview

  • Product name

    Recombinant Human HAX1 protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGSSHHHHHH SSGLVPRGSH MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR FHSPQHPPEE FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL PSHPPELPGP ESETPGERLR EGQTLRDSML KYPDSHQPRI FGGVLESDAR SESPQPAPDW GSQRPFHRFD DVWPMDPHPR TREDNDLDSQ VSQEGLGPVL QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV TRHEADSSPR GDPESPRPPA LDDAFSILDL FLGRWFRSR
    • Molecular weight

      34 kDa including tags
    • Amino acids

      1 to 279
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab140544 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • Mass spectrometry

    MALDI-TOF
  • Purity

    > 80 % SDS-PAGE.
    ab140544 is purified using conventional chromatography techniques.
  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 8.00
    Constituents: 0.32% Tris HCl, 10% Glycerol, 0.58% Sodium chloride

General Info

  • Alternative names

    • FLJ17042
    • FLJ18492
    • FLJ93803
    • HAX 1
    • HAX-1
    • HAX1
    • HAX1_HUMAN
    • Hax1a
    • HCLS1 and PKD2 associated protein
    • HCLS1 associated protein
    • HCLS1 associated protein X 1
    • HCLS1-associated protein X-1
    • HCLSBP1
    • HS 1 associated protein X 1
    • HS 1 binding protein
    • HS1 associating protein X 1
    • HS1 binding protein
    • HS1 binding protein 1
    • HS1-associating protein X-1
    • HS1-binding protein 1
    • HS1BP1
    • HSP1BP-1
    • OTTHUMP00000034190
    • SCN3
    see all
  • 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.
  • Tissue specificity

    Ubiquitous. Up-regulated in oral cancers.
  • 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 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. 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.
  • Sequence similarities

    Belongs to the HAX1 family.
  • Post-translational
    modifications

    Proteolytically cleaved by caspase-3 during apoptosis.
  • Cellular localization

    Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle. Sarcoplasmic reticulum.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of ab140544 (3µg).

References

ab140544 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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