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Aliases for GOLPH3 Gene

Aliases for GOLPH3 Gene

  • Golgi Phosphoprotein 3 (Coat-Protein) 2 3
  • GPP34 3 4 6
  • MIDAS 3 4 6
  • Mitochondrial DNA Absence Factor 3 4
  • Golgi-Associated Protein 2 3
  • Coat Protein GPP34 3 4
  • Golgi Protein 2 3
  • Coat-Protein 2 3
  • Golgi Peripheral Membrane Protein 1, 34 KDa 3
  • Golgi Peripheral Membrane Protein 1 2
  • Golgi Phosphoprotein 3 3
  • 34 KDa 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 (Coat-Protein)) is a Protein Coding gene. Diseases associated with GOLPH3 include focal dermal hypoplasia. Among its related pathways are Transcriptional misregulation in cancer. 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOLPH3 Gene

Genomics for GOLPH3 Gene

Regulatory Elements for GOLPH3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GOLPH3 Gene

Start:
32,124,704 bp from pter
End:
32,174,350 bp from pter
Size:
49,647 bases
Orientation:
Minus strand

Genomic View for GOLPH3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GOLPH3 Gene at MOPED

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 for GOLPH3 Gene

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 :
  • Q9H4A6
Family:
  • Belongs to the GOLPH3/VPS74 family.
genes like me logo Genes that share domains with GOLPH3: view

No data available for Gene Families for GOLPH3 Gene

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

Gene Ontology (GO) - Molecular Function for GOLPH3 Gene

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

Phenotypes for GOLPH3 Gene

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

Animal Model Products

CRISPR Products

miRNA for GOLPH3 Gene

miRTarBase miRNAs that target GOLPH3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for GOLPH3 Gene COMPARTMENTS Subcellular localization image for GOLPH3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
mitochondrion 5
nucleus 4
plasma membrane 4
endoplasmic reticulum 3
cytoskeleton 2
endosome 2
extracellular 2
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 16263763
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with GOLPH3: view

Pathways for GOLPH3 Gene

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

Pathways by source for GOLPH3 Gene

1 KEGG pathway for GOLPH3 Gene

Gene Ontology (GO) - Biological Process for GOLPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 19837035
GO:0008283 cell proliferation IMP 19553991
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

Transcripts for GOLPH3 Gene

mRNA/cDNA for GOLPH3 Gene

Unigene Clusters for GOLPH3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GOLPH3

Primer Products

Flow Cytometry 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 for GOLPH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GOLPH3 Gene

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.89 (n)
  • 100 (a)
GOLPH3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GOLPH3 35
  • 92.28 (n)
  • 97.32 (a)
GOLPH3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GOLPH3 35
  • 93.53 (n)
  • 99.51 (a)
GOLPH3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Golph3 35
  • 92.84 (n)
  • 98.66 (a)
Golph3 16
Golph3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GOLPH3 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GOLPH3 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Golph3 35
  • 93.18 (n)
  • 98.66 (a)
chicken
(Gallus gallus)
Aves GOLPH3 35
  • 84.53 (n)
  • 95.9 (a)
GOLPH3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GOLPH3 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11551 35
tropical clawed frog
(Silurana tropicalis)
Amphibia golph3 35
  • 74.71 (n)
  • 84.14 (a)
Str.3289 35
zebrafish
(Danio rerio)
Actinopterygii golph3 35
golph3 36
  • 87 (a)
OneToOne
si:dkey-27b3.2 35
  • 75.68 (n)
  • 86.64 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012632 35
  • 64.92 (n)
  • 73.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)s5379 35
  • 66.55 (n)
  • 72.92 (a)
l(2)s5379 36
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y47G6A.18 35
  • 62.06 (n)
  • 70.18 (a)
Y47G6A.18 36
  • 68 (a)
OneToMany
Y47G6A.18 37
  • 63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS74 36
  • 33 (a)
OneToMany
VPS74 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2445 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.486 36
  • 64 (a)
OneToMany
Species with no ortholog for GOLPH3:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs9645 -- 32,124,849(+) AACAA(A/C)AAAAA utr-variant-3-prime
rs15454 -- 32,125,459(-) CCCCT(C/T)GCTTG utr-variant-3-prime
rs149369 -- 32,142,815(-) cctcc(C/T)ggacg intron-variant
rs157490 -- 32,127,403(+) TAAAT(C/T)AGAAT intron-variant
rs157491 -- 32,127,828(+) ATATA(C/T)GAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1789e1 CNV Complex 17122850
nsv830251 CNV Loss 17160897
nsv881577 CNV Gain 21882294
dgv6027n71 CNV Gain 21882294
essv2103 CNV CNV 17122850
dgv698n27 CNV Gain 19166990
dgv1790e1 CNV Complex 17122850
dgv6028n71 CNV Gain 21882294
nsv517387 CNV Gain 19592680
dgv201e55 CNV Gain 17911159
nsv880824 CNV Gain 21882294
dgv941n67 CNV Gain 20364138
esv33235 CNV Gain 17666407
nsv441947 CNV CNV 18776908
dgv54n64 CNV Gain 17921354
nsv514301 CNV Gain 21397061
dgv202e55 CNV Gain 17911159
dgv203e55 CNV Gain 17911159
dgv1791e1 CNV Complex 17122850
dgv6029n71 CNV Gain 21882294
nsv328059 CNV Insertion 16902084
esv2667263 CNV Deletion 23128226

Relevant External Links for GOLPH3 Gene

HapMap Linkage Disequilibrium report
GOLPH3

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

Disorders for GOLPH3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for GOLPH3 Gene including...

Search for GOLPH3 Gene in MalaCards »

Relevant External Links for GOLPH3

Genetic Association Database (GAD)
GOLPH3
Human Genome Epidemiology (HuGE) Navigator
GOLPH3
genes like me logo Genes that share disorders with GOLPH3: view

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

Publications for GOLPH3 Gene

  1. Proteomics characterization of abundant Golgi membrane proteins. (PMID: 11042173) Bell A.W. … Bergeron J.J.M. (J. Biol. Chem. 2001) 2 3 4
  2. MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. (PMID: 16263763) Nakashima-Kamimura N. … Ohta S. (J. Cell Sci. 2005) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. GOLPH3 bridges phosphatidylinositol-4- phosphate and actomyosin to stretch and shape the Golgi to promote budding. (PMID: 19837035) Dippold H.C. … Field S.J. (Cell 2009) 3 4

Products for GOLPH3 Gene

Sources for GOLPH3 Gene

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