HSPBP1

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Description

The HSPBP1 (HSPA (Hsp70) binding protein 1) is a protein-coding gene located on chromosome 19.

Hsp70-binding protein 1 is a protein that in humans is encoded by the HSPBP1 gene. HSPBP1 has been shown to interact with HSPA8 and HSPA4.

HSPBP1 inhibits the chaperone activity of HSPA1A by altering the conformation of its ATP-binding domain, hindering ATP binding. It also interferes with ubiquitination mediated by STUB1, preventing the chaperone-assisted degradation of immature CFTR.

HSPBP1 is also known as FES1.

Associated Diseases

• partial chromosome Y deletion
• male infertility with teratozoospermia due to single gene mutation
• spermatogenic failures 50
• spermatogenic failure 25
• spinocerebellar ataxia type 32
• congenital bilateral absence of vas deferens
• isochromosomy Yp
• spermatogenic failure, X-linked, 2
• spermatogenic failure 63
• isochromosomy Yq
• spermatogenic failure 61
• spermatogenic failure 73
• spermatogenic failure 74
• spermatogenic failure 48
• isolated congenital hypogonadotropic hypogonadism
• 46,XX testicular disorder of sex development
• partial androgen insensitivity syndrome