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- Table of Contents
Facts about 40-kDa huntingtin-associated protein.
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Human | |
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Gene Name: | F8A1 |
Uniprot: | P23610 |
Entrez: | 8263 |
Belongs to: |
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No superfamily |
40-kDa huntingtin-associated protein
Mass (kDA):
39.103 kDA
Human | |
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Location: | Xq28 |
Sequence: | X; NC_000023.11 (154886360..154888061) |
Produced abundantly in a wide variety of cell types.
Cytoplasm. Nucleus. Early endosome. Nucleus, nuclear body. Diffuse presence in the cytoplasm and accumulation in the nucleus (PubMed:16476778). In absence of HTT, F8A1/F8A2/F8A3 is concentred in cytoplasm (By similarity). Colocalized with HTT in endosomes (PubMed:16476778). In neuron found in intranuclear structures, the intranuclear rodlets (INRs), also known as rodlets of Roncoroni, in association with ubiquitin (By similarity).
PMID: 2110545 by Levinson B., et al. A transcribed gene in an intron of the human factor VIII gene.
PMID: 16476778 by Pal A., et al. Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease.