GOLPH3 Gene (Protein Coding)

Golgi Phosphoprotein 3

GC05M032124
GIFtS:
40
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 trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these va... See more...

Aliases for GOLPH3 Gene

Aliases for GOLPH3 Gene

  • Golgi Phosphoprotein 3 2 3 3 4 5
  • GPP34 2 3 4
  • MIDAS 2 3 4
  • Golgi Peripheral Membrane Protein 1, 34 KDa 2 3
  • Mitochondrial DNA Absence Factor 3 4
  • Golgi-Associated Protein 2 3
  • Coat Protein GPP34 3 4
  • Golgi Protein 2 3
  • Coat-Protein 2 3
  • GOPP1 2 3
  • Vps74 2 3
  • Golgi Phosphoprotein 3 (Coat-Protein) 2
  • GOLPH3 5

External Ids for GOLPH3 Gene

Previous GeneCards Identifiers for GOLPH3 Gene

  • GC05M031912
  • GC05M032571
  • GC05M032170
  • GC05M032160
  • GC05M032091

Summaries for GOLPH3 Gene

Entrez Gene Summary for GOLPH3 Gene

  • 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 trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GOLPH3 Gene

GOLPH3 (Golgi Phosphoprotein 3) is a Protein Coding gene. Diseases associated with GOLPH3 include Anemia, Congenital Dyserythropoietic, Type Ii and Dyggve-Melchior-Clausen Disease. Gene Ontology (GO) annotations related to this gene include enzyme binding and phosphatidylinositol-4-phosphate binding. An important paralog of this gene is GOLPH3L.

UniProtKB/Swiss-Prot Summary for GOLPH3 Gene

  • 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 could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis.

Additional gene information for GOLPH3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GOLPH3 Gene

Genomics for GOLPH3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GOLPH3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOLPH3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GOLPH3

Top Transcription factor binding sites by QIAGEN in the GOLPH3 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • ATF-2
  • c-Jun

Genomic Locations for GOLPH3 Gene

Latest Assembly
chr5:32,124,711-32,174,319
(GRCh38/hg38)
Size:
49,609 bases
Orientation:
Minus strand

Previous Assembly
chr5:32,124,822-32,174,425
(GRCh37/hg19 by Entrez Gene)
Size:
49,604 bases
Orientation:
Minus strand

chr5:32,124,810-32,174,456
(GRCh37/hg19 by Ensembl)
Size:
49,647 bases
Orientation:
Minus strand

Genomic View for GOLPH3 Gene

Genes around GOLPH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOLPH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOLPH3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GOLPH3 Gene

Proteins for GOLPH3 Gene

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  • Protein details for GOLPH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4A6-GOLP3_HUMAN
    Recommended name:
    Golgi phosphoprotein 3
    Protein Accession:
    Q9H4A6
    Secondary Accessions:
    • Q9UIW5

    Protein attributes for GOLPH3 Gene

    Size:
    298 amino acids
    Molecular mass:
    33811 Da
    Quaternary structure:
    • Homodimer. Interacts with the coatomer complex. Interacts with MYO18A; the interaction is direct and may link Golgi membranes to the actin cytoskeleton. Interacts with GCNT1; may control its retention in the Golgi. Interacts with VPS35.
    Miscellaneous:
    • Modulates sensitivity to rapamycin. Tumors expressing this protein are more sensitive to rapamycin in vivo.

    Three dimensional structures from OCA and Proteopedia for GOLPH3 Gene

neXtProt entry for GOLPH3 Gene

Protein Expression for GOLPH3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GOLPH3 Gene

Other Protein References for GOLPH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GOLPH3 Gene

Domains & Families for GOLPH3 Gene

Gene Families for GOLPH3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GOLPH3 Gene

InterPro:
Blocks:
  • Golgi phosphoprotein 3
ProtoNet:

Suggested Antigen Peptide Sequences for GOLPH3 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial DNA absence factor (GOLP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H4A6

UniProtKB/Swiss-Prot:

GOLP3_HUMAN :
  • Belongs to the GOLPH3/VPS74 family.
Family:
  • Belongs to the GOLPH3/VPS74 family.
genes like me logo Genes that share domains with GOLPH3: view

Function for GOLPH3 Gene

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  6. Cell Lines for research

Molecular function for GOLPH3 Gene

UniProtKB/Swiss-Prot 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 could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis.
UniProtKB/Swiss-Prot Induction:
Activated by depletion of mitochondrial DNA.

Phenotypes From GWAS Catalog for GOLPH3 Gene

Gene Ontology (GO) - Molecular Function for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19553991
GO:0008289 lipid binding IEA --
GO:0019899 enzyme binding IPI 23027862
GO:0070273 phosphatidylinositol-4-phosphate binding IEA,IDA 19837035
genes like me logo Genes that share ontologies with GOLPH3: view
genes like me logo Genes that share phenotypes with GOLPH3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLPH3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GOLPH3 Gene

Localization for GOLPH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOLPH3 Gene

Golgi apparatus, Golgi stack membrane. Peripheral membrane protein. Cytoplasmic side. Golgi apparatus, trans-Golgi network membrane. Peripheral membrane protein. Cytoplasmic side. Mitochondrion intermembrane space. Cell membrane. Endosome. Note=Phosphatidylinositol 4-phosphate-binding and oligomerization participate in the recruitment onto Golgi membranes. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOLPH3 gene
Compartment Confidence
mitochondrion 5
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 4
endosome 4
cytoskeleton 3
endoplasmic reticulum 3
extracellular 2
peroxisome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16263763
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA,IMP 18410729
GO:0005802 trans-Golgi network IBA,IDA 16263763
genes like me logo Genes that share ontologies with GOLPH3: view

Pathways & Interactions for GOLPH3 Gene

PathCards logo

SuperPathways for GOLPH3 Gene

No Data Available

SIGNOR curated interactions for GOLPH3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0007030 Golgi organization IMP 19837035
GO:0009101 glycoprotein biosynthetic process IMP 23027862
GO:0009306 protein secretion IMP 23500462
GO:0010467 gene expression IMP 23500462
genes like me logo Genes that share ontologies with GOLPH3: view

No data available for Pathways by source for GOLPH3 Gene

Drugs & Compounds for GOLPH3 Gene

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No Compound Related Data Available

Transcripts for GOLPH3 Gene

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mRNA/cDNA for GOLPH3 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLPH3

Alternative Splicing Database (ASD) splice patterns (SP) for GOLPH3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for GOLPH3 Gene

GeneLoc Exon Structure for
GOLPH3

Expression for GOLPH3 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GOLPH3 Gene

mRNA expression in normal human tissues for GOLPH3 Gene
mRNA expression by GTEx for GOLPH3 GenemRNA expression by BioGPS for GOLPH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GOLPH3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.9), Salivary gland (7.0), and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOLPH3 Gene



Protein tissue co-expression partners for GOLPH3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GOLPH3

SOURCE GeneReport for Unigene cluster for GOLPH3 Gene:

Hs.408909

mRNA Expression by UniProt/SwissProt for GOLPH3 Gene:

Q9H4A6-GOLP3_HUMAN
Tissue specificity: Detected in muscle fibers of patients with mitochondrial diseases; not detected in normal muscle fibers.

Evidence on tissue expression from TISSUES for GOLPH3 Gene

  • Nervous system(4.7)
  • Liver(4.7)
  • Eye(4.5)
  • Kidney(3.1)
  • Skin(3.1)
  • Blood(3.1)
  • Heart(2.9)
  • Spleen(2.9)
  • Intestine(2.9)
  • Lung(2.8)
  • Muscle(2.7)
  • Lymph node(2.6)
  • Stomach(2.6)
  • Pancreas(2.5)
  • Thyroid gland(2.4)
  • Adrenal gland(2.4)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with GOLPH3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOLPH3 Gene

Orthologs for GOLPH3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GOLPH3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GOLPH3 30 31
  • 99.89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GOLPH3 31
  • 97 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GOLPH3 31
  • 94 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GOLPH3 30 31
  • 93.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Golph3 30
  • 93.18 (n)
Mouse
(Mus musculus)
 Mammalia Golph3 30 17 31
  • 92.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GOLPH3 30 31
  • 92.28 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves GOLPH3 30 31
  • 84.53 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GOLPH3 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia golph3 30
  • 74.71 (n)
Str.3289 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11551 30
Zebrafish
(Danio rerio)
 Actinopterygii golph3 30 31
  • 87 (a)
 OneToOne
si:dkey-27b3.2 30
  • 75.68 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta l(2)s5379 30 31
  • 66.55 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012606 30
  • 64.92 (n)
Worm
(Caenorhabditis elegans)
 Secernentea Y47G6A.18 31 32
  • 68 (a)
 OneToMany
CELE_Y47G6A.18 30
  • 62.06 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS74 31 33
  • 33 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.486 31
  • 64 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.2445 30
Species where no ortholog for GOLPH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GOLPH3 Gene

ENSEMBL:
Gene Tree for GOLPH3 (if available)
TreeFam:
Gene Tree for GOLPH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GOLPH3: view image

Paralogs for GOLPH3 Gene

Paralogs for GOLPH3 Gene

(1) SIMAP similar genes for GOLPH3 Gene using alignment to 3 proteins:

  • GOLP3_HUMAN
  • D6REM1_HUMAN
  • L8ECJ6_HUMAN
genes like me logo Genes that share paralogs with GOLPH3: view

Variants for GOLPH3 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GOLPH3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GOLPH3 Gene

Variant ID Type Subtype PubMed ID
dgv1086e214 CNV gain 21293372
dgv1087e214 CNV gain 21293372
dgv1591e212 CNV gain 25503493
dgv201e55 CNV gain 17911159
dgv202e55 CNV gain 17911159
dgv203e55 CNV gain 17911159
dgv208n111 CNV duplication 26073780
dgv54n64 CNV gain 17921354
dgv5620n100 CNV gain 25217958
dgv5621n100 CNV gain 25217958
dgv5622n100 CNV gain 25217958
dgv5623n100 CNV gain 25217958
dgv5624n100 CNV gain 25217958
dgv698n27 CNV gain 19166990
dgv941n67 CNV gain 20364138
dgv9714n54 CNV gain 21841781
dgv9715n54 CNV gain 21841781
esv2667263 CNV deletion 23128226
esv2759337 CNV gain 17122850
esv2763905 CNV gain 21179565
esv33235 CNV gain 17666407
esv3565765 CNV deletion 23714750
esv3575833 CNV gain 25503493
esv3584528 CNV gain 24956385
esv3604580 CNV gain 21293372
esv3604594 CNV gain 21293372
esv3894170 CNV gain 25118596
nsv1021781 CNV gain 25217958
nsv1027907 CNV gain 25217958
nsv328059 CNV insertion 16902084
nsv441947 CNV gain 18776908
nsv514301 CNV gain 21397061
nsv517387 CNV gain 19592680
nsv597771 CNV gain 21841781
nsv597780 CNV gain 21841781
nsv597781 CNV gain 21841781
nsv597782 CNV gain 21841781
nsv597783 CNV gain 21841781
nsv830251 CNV loss 17160897

Variation tolerance for GOLPH3 Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOLPH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOLPH3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GOLPH3 Gene

Disorders for GOLPH3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for GOLPH3 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GOLPH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GOLPH3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GOLPH3 Gene

Publications for GOLPH3 Gene

  1. MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. (PMID: 16263763) Nakashima-Kamimura N … Ohta S (Journal of cell science 2005) 2 3 4
  2. Proteomics characterization of abundant Golgi membrane proteins. (PMID: 11042173) Bell AW … Bergeron JJ (The Journal of biological chemistry 2001) 2 3 4
  3. Functional characterization of human myosin-18A and its interaction with F-actin and GOLPH3. (PMID: 23990465) Taft MH … Manstein DJ (The Journal of biological chemistry 2013) 3 4
  4. GOLPH3L antagonizes GOLPH3 to determine Golgi morphology. (PMID: 23345592) Ng MM … Field SJ (Molecular biology of the cell 2013) 3 4
  5. GOLPH3 regulates the migration and invasion of glioma cells though RhoA. (PMID: 23500462) Zhou X … Yu R (Biochemical and biophysical research communications 2013) 3 4

ExternalLinks

View latest publications for GOLPH3 gene in Mastermind

Products for GOLPH3 Gene

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