puratrophin-1 (pleckstrin homology domain-containing family G member 4, purkinje cell atrophy-associated protein 1, PLEKHG4, PRTPHN1)

Function: - role in intracellular signaling & cytoskeleton dynamics at the Golgi (putative) Structure: - contains 1 DH domain (DBL-homology domain) - contains 1 PH domain Alternative splicing: named isoforms=3 Expression: - expressed in kidney, Leydig cells in testis, epithelial cells in prostate & Langerhans islet in the pancreas - isoform 1 & isoform 3 are expressed in Purkinje cells > other neurons - widely expressed at low levels Pathology: - defects in PLEKHG4 are initially thought to be associated with spinocerebellar ataxia, Holmes type (SCA31) but it is not; but rather associated with the BEAN gene

Properties

SIZE: MW = 131 kD entity length = 1191 aa COMPARTMENT: cytoplasm MOTIF: Dbl homology domain {732-908} PH domain {920-1027}

Database Correlations

OMIM 117210 UniProt Q58EX7 PFAM correlations

References

UniProt :accession Q58EX7