Gene Gene information from NCBI Gene database.
Entrez ID 64083
Gene name Golgi phosphoprotein 3
Gene symbol GOLPH3
Synonyms (NCBI Gene)
GOPP1GPP34MIDASVps74
Chromosome 5
Chromosome location 5p13.3
Summary The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi traffickin
miRNA miRNA information provided by mirtarbase database.
522
miRTarBase ID miRNA Experiments Reference
MIRT020516 hsa-miR-155-5p Proteomics 18668040
MIRT023541 hsa-miR-1-3p Proteomics 18668040
MIRT036246 hsa-miR-320b CLASH 23622248
MIRT714882 hsa-miR-3529-3p HITS-CLIP 19536157
MIRT714881 hsa-miR-106a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 19553991, 19837035, 22190034, 23027862, 24485452, 25416956
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 16263763
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612207 15452 ENSG00000113384
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H4A6
Protein name Golgi phosphoprotein 3 (Coat protein GPP34) (Mitochondrial DNA absence factor) (MIDAS)
Protein function Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and coul
PDB 3KN1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05719 GPP34 62 288 Golgi phosphoprotein 3 (GPP34) Family
Tissue specificity TISSUE SPECIFICITY: Detected in muscle fibers of patients with mitochondrial diseases; not detected in normal muscle fibers.
Sequence
Sequence length 298
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EYE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25104140
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28731960
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28731960
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21499727
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 26461057
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 26461057 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 25760033
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 26375441, 29187903, 31494662, 31714185
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 28144969
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 24867097 Stimulate
★☆☆☆☆
Found in Text Mining only