UNIPROT #

Q9H4A6

PROTEIN NAME

GOLPH3

SYNONYMS

Coat protein antibody; Coat protein GPP34 antibody; FLJ90675 antibody; Golgi associated protein antibody; Golgi peripheral membrane protein 1, 34 kDa antibody; Golgi phosphoprotein 3 (coat protein) antibody; Golgi phosphoprotein 3 antibody; Golgi protein antibody; GOLP3_HUMAN antibody; Golph3 antibody; GOPP1 antibody; GPP34 antibody; MIDAS antibody; Mitochondrial DNA absence factor antibody

SEQUENCE SIMILARITIES

Belongs to the GOLPH3/VPS74 family.

TISSUE SPECIFICITY

Detected in muscle fibers of patients with mitochondrial diseases; not detected in normal muscle fibers.

POST-TRANSLATIONAL MODIFICATION

Phosphorylated.

SUBCELLULAR LOCATION

Cell membrane. Endosome. Cytoplasm.

FUNCTION

GOLPH3 (golgi phosphoprotein 3), also known as GOPP1, GPP34 or MIDAS, is a 298 amino acid protein that localizes to both the cytoplasm and the Golgi stack membrane where it is thought to play a regulatory role in protein trafficking within the Golgi. GOLPH3 is subject to post-translational phosphorylation and is encoded by a gene which maps to human chromosome 5. Chromosome 5 contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.