background:
HS1BP3 is a 392 amino acid protein that contains one PX (phox homology) domain, a leucine zipper, immunoreceptor tyrosine-based inhibitory motif-like motifs and multiple proline-rich regions. Expressed primarily in brain, HS1BP3 is encoded by a gene mapping to human chromosome 2p24.1. The gene encoding HS1BP3 is frequently mutated in familial essential tremor, a disorder characterized by kinetic tremor the the hands, voice or head, though there is no correlation to Parkinson disease. HS1BP3 interacts with HAX-1’s SH3 domain, and may also play a role in the regulation of catecholamine and serotonin metabolism. Acting as a regulator of IL-2 signaling, HS1BP3 is likely involved in lymphocyte activation.
Function:
May be a modulator of IL-2 signaling.
Subunit:
Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro
Similarity:
Contains 1 PX (phox homology) domain.
Database links:
Entrez Gene: 64342 Human
Entrez Gene: 100338217 Rabbit
Omim: 609359 Human
SwissProt: Q53T59 Human
Unigene: 531785 Human
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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