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Aliases for GOLPH3 Gene

Aliases for GOLPH3 Gene

  • Golgi Phosphoprotein 3 2 3 5
  • 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
  • GPP34 3 4
  • MIDAS 3 4
  • Golgi Phosphoprotein 3 (Coat-Protein) 2
  • GOPP1 3
  • Vps74 3

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 Chronic Sphenoidal Sinusitis and Smith-Mccort Dysplasia 1. 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 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 , fRNAdb sequence ontologies and piRNA Summary for GOLPH3 Gene

Genomics for GOLPH3 Gene

GeneHancer (GH) Regulatory Elements for GOLPH3 Gene

Promoters and enhancers for GOLPH3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I032170 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.3 1343 5.2 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 ZNF610 GLIS1 NBN ENSG00000272086 GC05P032175 GOLPH3 MTMR12 DROSHA RPS8P8 RPL27P10 GC05P032142
GH05I031361 Enhancer 1 Ensembl ENCODE 18.1 +810.0 810038 6.5 ZNF302 ZNF354C FOS EGR2 ZNF645 ZNF592 AEBP2 ZNF530 HMBOX1 NR2C1 DROSHA MTMR12 GOLPH3 ENSG00000254138 GC05P031506
GH05I032230 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.5 -58.6 -58564 5.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 ZNF121 GC05M032236 RNU6-1079P GOLPH3 MIR579 ZFR MTMR12 PIR37174 GC05P032221 GC05M032181
GH05I032272 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -101.7 -101676 6.3 ATF1 PKNOX1 FOXA2 ARID4B ETS1 ATF7 RUNX3 JUNB ZNF491 NFIL3 DROSHA GOLPH3 MTMR12 RPL27P10 GC05M032181 GC05P032310
GH05I032329 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 -156.6 -156553 3.2 FOXA2 ARID4B DMAP1 ARID2 ZNF143 RUNX3 DEK RXRA REST PPARG MTMR12 MIR579 ZFR GOLPH3 LOC646616 SUB1 GC05P032360
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GOLPH3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GOLPH3 gene promoter:

Genomic Locations for GOLPH3 Gene

Genomic Locations for GOLPH3 Gene
chr5:32,124,704-32,174,350
(GRCh38/hg38)
Size:
49,647 bases
Orientation:
Minus strand
chr5:32,124,810-32,174,456
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for GOLPH3 Gene

Proteins for GOLPH3 Gene

  • 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

Post-translational modifications for GOLPH3 Gene

Other Protein References for GOLPH3 Gene

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:
ProtoNet:

Suggested Antigen Peptide Sequences for GOLPH3 Gene

GenScript: Design optimal peptide antigens:

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

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 IDA,IEA 19837035
genes like me logo Genes that share ontologies with GOLPH3: view
genes like me logo Genes that share phenotypes with GOLPH3: view

Clone Products

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
endoplasmic reticulum 3
extracellular 2
cytoskeleton 2
lysosome 2
peroxisome 1

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 IMP 18410729
GO:0005802 trans-Golgi network IDA 16263763
genes like me logo Genes that share ontologies with GOLPH3: view

Pathways & Interactions for GOLPH3 Gene

SuperPathways for GOLPH3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA --
GO:0007030 Golgi organization IMP 19837035
GO:0008283 cell proliferation IMP 19553991
GO:0009101 glycoprotein biosynthetic process IMP 23027862
genes like me logo Genes that share ontologies with GOLPH3: view

No data available for Pathways by source and SIGNOR curated interactions for GOLPH3 Gene

Drugs & Compounds for GOLPH3 Gene

No Compound Related Data Available

Transcripts for GOLPH3 Gene

Unigene Clusters for GOLPH3 Gene

Golgi phosphoprotein 3 (coat-protein):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
GOLPH3

Expression for GOLPH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for GOLPH3 Gene



Protein tissue co-expression partners for GOLPH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GOLPH3 Gene:

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

  • Liver(4.6)
  • Nervous system(4.6)
  • Eye(4.4)
  • Blood(2.8)
  • Kidney(2.7)
  • Heart(2.5)
  • Spleen(2.4)
  • Intestine(2.3)
  • Lung(2.3)
  • Skin(2.3)
  • Muscle(2.2)
  • Lymph node(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with GOLPH3: view

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 34 33
  • 99.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GOLPH3 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GOLPH3 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GOLPH3 34 33
  • 93.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Golph3 33
  • 93.18 (n)
mouse
(Mus musculus)
Mammalia Golph3 33 16 34
  • 92.84 (n)
cow
(Bos Taurus)
Mammalia GOLPH3 34 33
  • 92.28 (n)
OneToOne
chicken
(Gallus gallus)
Aves GOLPH3 34 33
  • 84.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GOLPH3 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia golph3 33
  • 74.71 (n)
Str.3289 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11551 33
zebrafish
(Danio rerio)
Actinopterygii golph3 33 34
  • 87 (a)
si:dkey-27b3.2 33
  • 75.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)s5379 33 34
  • 66.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012632 33
  • 64.92 (n)
worm
(Caenorhabditis elegans)
Secernentea Y47G6A.18 35 34
  • 63 (a)
CELE_Y47G6A.18 33
  • 62.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS74 34 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.486 34
  • 64 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2445 33
Species where no ortholog for GOLPH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for GOLPH3 Gene

Paralogs for GOLPH3 Gene

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

genes like me logo Genes that share paralogs with GOLPH3: view

Variants for GOLPH3 Gene

Sequence variations from dbSNP and Humsavar for GOLPH3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000011598 -- 32,137,157(-) C/G intron_variant
rs1000063813 -- 32,139,978(-) G/T intron_variant
rs1000067752 -- 32,143,617(-) T/C intron_variant
rs1000165975 -- 32,131,207(-) G/T intron_variant
rs1000254989 -- 32,152,336(-) A/G intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOLPH3 Gene

Disorders for GOLPH3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GOLPH3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chronic sphenoidal sinusitis
  • sphenoidal sinus-chr.
smith-mccort dysplasia 1
  • smc1
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
renal pelvis carcinoma
  • carcinoma of kidney pelvis
sphenoid sinusitis
  • sphenoidal sinusitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GOLPH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Proteomics characterization of abundant Golgi membrane proteins. (PMID: 11042173) Bell AW … Bergeron JJ (The Journal of biological chemistry 2001) 2 3 4 58
  3. GOLPH3L antagonizes GOLPH3 to determine Golgi morphology. (PMID: 23345592) Ng MM … Field SJ (Molecular biology of the cell 2013) 3 4 58
  4. 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 58
  5. 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 58

Products for GOLPH3 Gene

Sources for GOLPH3 Gene

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