HSPBAP1 gene

HSPB1 associated protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

From UniProt:

May play a role in cellular stress response.

From UniProt:

A chromosomal aberration involving HSPBAP1 has been found in a family with renal carcinoma (PubMed:12939738). Translocation t(2;3)(q35;q21) with the putative pseudogene DIRC3 (PubMed:12939738). Produces a hybrid mRNA encoding a truncated HSPBAP1 lacking the first 36 amino acids (PubMed:12939738).

Cytogenetic Location: 3q21.1, which is the long (q) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 122,739,997 to 122,793,829 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q21.1, which is the long (q) arm of chromosome 3 at position 21.1