TB2/DP1/HVA22
IPR004345
Definition
This family includes members from a wide variety of eukaryotes and includes Receptor expression-enhancing proteins (REEPs), its homologues from fungi Yop1 and similar sequences from plants. REEP/DP1/Yop1 family of proteins are involved in the control of endoplasmic reticulum organisation and mutations in some members of this family are associated with inherited diseases like Hereditary spastic paraplegias (HSPs) [[cite:PMID:24388663], [cite:PMID:20200447]]. REEP5, also known as TB2/DP1 (deleted in polyposis) protein PMID:8647449, plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes PMID:32075961. In human is deleted in severe forms of familial adenomatous polyposis, an autosomal dominant oncological inherited disease PMID:10805953. The family also includes the plant protein of known similarity to TB2/DP1, the HVA22 abscisic acid-induced protein, which is thought to be a regulatory protein PMID:8226892.
6 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
Loading the interactive Seroatlas explorer...