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Rabbit Anti-HIP12/FITC Conjugated antibody
background:
Huntington disease is associated with the expansion of a polyglutamine tract, greater than 35 repeats, in the HD gene product, huntingtin. HIP1, a membrane-associated protein, binds specifically to the N-terminus of human huntingtin. HIP1 is ubiquitously expressed in different brain regions at low levels and exhibits nearly identical subcellular fractionation as huntingtin. The HIP1 gene locates to the human chromosome 7q11.23. The huntingtin-HIP1 interaction is restricted to the brain and is inversely correlated to the polyglutamine length in the huntingtin, suggesting that loss of normal huntingtin-HIP1 interaction may compromise the membrane-cytoskeletal integrity in the brain. HIP1 contains an endocytic multidomain protein with a SLCterminal Actin-binding domain, a central coiled-coil forming region and an N-terminal ENTH domain. HIP1 may be involved in vesicle trafficking; the structural integrity of HIP1 is crucial for maintenance of normal vesicle size in vivo. HIP12 is a non-proapoptotic member of the HIP gene family that is expressed in the brain and shares a similar subcellular distribution pattern with HIP1. However, HIP12 differs from HIP1 in its pattern of expression at both the mRNA and protein level. HIP12 does not directly interact with huntingtin but can interact with HIP1.
Function:
Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis.
Subunit:
Interacts with actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1. Homodimer. Homodimerization promotes actin binding.
Subcellular Location:
Cytoplasm, perinuclear region. Intracytoplasmic membrane. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region.
Tissue Specificity:
Brain, heart, kidney, pancreas, and liver, but not in lung or placenta.
Similarity:
Belongs to the SLA2 family.
Contains 1 ENTH (epsin N-terminal homology) domain.
Contains 1 I/LWEQ domain.
Database links:
Entrez Gene: 9026 Human
Entrez Gene: 29816 Mouse
Entrez Gene: 81917 Rat
Omim: 605613 Human
SwissProt: O75146 Human
SwissProt: Q9JKY5 Mouse
Unigene: 524815 Human
Unigene: 714965 Human
Unigene: 149954 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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