Human Gene GOLPH3 (ENST00000265070.7_7) from GENCODE V47lift37
  Description: golgi phosphoprotein 3 (from RefSeq NM_022130.4)
Gencode Transcript: ENST00000265070.7_7
Gencode Gene: ENSG00000113384.14_9
Transcript (Including UTRs)
   Position: hg19 chr5:32,124,822-32,174,425 Size: 49,604 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr5:32,126,318-32,174,140 Size: 47,823 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:32,124,822-32,174,425)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GOLP3_HUMAN
DESCRIPTION: RecName: Full=Golgi phosphoprotein 3; AltName: Full=Coat protein GPP34; AltName: Full=Mitochondrial DNA absence factor; Short=MIDAS;
FUNCTION: Mediates the cis and medial Golgi localization of mannosyltransferases through direct binding of their cytosolic domains. Involved in modulation of mTOR signaling. Involved in the regulation of mitochondrial lipids, leading to increase of mitochondrial mass. Potential oncogene.
SUBUNIT: Homodimer. Interacts with VPS35.
INTERACTION: Q92614:MYO18A; NbExp=4; IntAct=EBI-2465479, EBI-949059; P12520:vpr (xeno); NbExp=3; IntAct=EBI-2465479, EBI-6164519;
SUBCELLULAR LOCATION: Cell membrane (By similarity). Endosome (By similarity). Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Mitochondrion intermembrane space. Note=Phosphatidylinositol 4-phosphate (PtdIns4P) binding is essential for Golgi localization.
TISSUE SPECIFICITY: Detected in muscle fibers of patients with mitochondrial diseases; not detected in normal muscle fibers.
INDUCTION: Activated by depletion of mitochondrial DNA.
PTM: Phosphorylated (By similarity).
MISCELLANEOUS: Modulates sensitivity to rapamycin. Tumors expressing this protein are more sensitive to rapamycin in vivo.
SIMILARITY: Belongs to the GOLPH3/VPS74 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GOLPH3
Diseases sorted by gene-association score: chronic sphenoidal sinusitis (5), migraine with or without aura 1 (3), smith-mccort dysplasia (2), renal pelvis carcinoma (1), sphenoid sinusitis (1), patent foramen ovale (1), cataract 31, multiple types (1), intermittent explosive disorder (1), muscular dystrophy-dystroglycanopathy , type b, 6 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.70 RPKM in Colon - Sigmoid
Total median expression: 1503.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -139.20285-0.488 Picture PostScript Text
3' UTR -340.201496-0.227 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008628 - GPP34

Pfam Domains:
PF05719 - Golgi phosphoprotein 3 (GPP34)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3KN1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H4A6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0019899 enzyme binding
GO:0070273 phosphatidylinositol-4-phosphate binding

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007030 Golgi organization
GO:0008283 cell proliferation
GO:0009101 glycoprotein biosynthetic process
GO:0009306 protein secretion
GO:0010467 gene expression
GO:0010821 regulation of mitochondrion organization
GO:0015031 protein transport
GO:0016477 cell migration
GO:0030032 lamellipodium assembly
GO:0032008 positive regulation of TOR signaling
GO:0043001 Golgi to plasma membrane protein transport
GO:0043066 negative regulation of apoptotic process
GO:0045053 protein retention in Golgi apparatus
GO:0048194 Golgi vesicle budding
GO:0050714 positive regulation of protein secretion
GO:0050901 leukocyte tethering or rolling
GO:0060352 cell adhesion molecule production
GO:0090161 Golgi ribbon formation
GO:0090164 asymmetric Golgi ribbon formation

Cellular Component:
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031985 Golgi cisterna
GO:0032580 Golgi cisterna membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC033725 - Homo sapiens golgi phosphoprotein 3 (coat-protein), mRNA (cDNA clone MGC:44986 IMAGE:4999629), complete cds.
AK075077 - Homo sapiens cDNA FLJ90596 fis, clone PLACE1001229, highly similar to Golgi phosphoprotein 3.
AK092604 - Homo sapiens cDNA FLJ35285 fis, clone PROST2008079, highly similar to Golgi phosphoprotein 3.
AK057544 - Homo sapiens cDNA FLJ32982 fis, clone THYMU1000002, highly similar to Golgi phosphoprotein 3.
BC063586 - Homo sapiens golgi phosphoprotein 3 (coat-protein), mRNA (cDNA clone MGC:74684 IMAGE:4428707), complete cds.
BC012123 - Homo sapiens golgi phosphoprotein 3 (coat-protein), mRNA (cDNA clone MGC:20187 IMAGE:4558305), complete cds.
AK075156 - Homo sapiens cDNA FLJ90675 fis, clone PLACE1005669.
LF385031 - JP 2014500723-A/192534: Polycomb-Associated Non-Coding RNAs.
AK128510 - Homo sapiens cDNA FLJ46665 fis, clone TRACH3007277, highly similar to Golgi phosphoprotein 3.
AL133078 - Homo sapiens mRNA; cDNA DKFZp434P1217 (from clone DKFZp434P1217); partial cds.
AJ296152 - Homo sapiens mRNA for Golgi protein (GPP34 gene).
JD302443 - Sequence 283467 from Patent EP1572962.
JD114111 - Sequence 95135 from Patent EP1572962.
JD564661 - Sequence 545685 from Patent EP1572962.
JD140710 - Sequence 121734 from Patent EP1572962.
JD227759 - Sequence 208783 from Patent EP1572962.
LF336039 - JP 2014500723-A/143542: Polycomb-Associated Non-Coding RNAs.
AK293368 - Homo sapiens cDNA FLJ54589 complete cds, highly similar to Golgi phosphoprotein 3.
AK301588 - Homo sapiens cDNA FLJ55806 complete cds, highly similar to Golgi phosphoprotein 3.
JD239193 - Sequence 220217 from Patent EP1572962.
JD431309 - Sequence 412333 from Patent EP1572962.
JD073297 - Sequence 54321 from Patent EP1572962.
JD098449 - Sequence 79473 from Patent EP1572962.
KJ894524 - Synthetic construct Homo sapiens clone ccsbBroadEn_03918 GOLPH3 gene, encodes complete protein.
LF336038 - JP 2014500723-A/143541: Polycomb-Associated Non-Coding RNAs.
LF336033 - JP 2014500723-A/143536: Polycomb-Associated Non-Coding RNAs.
LF210232 - JP 2014500723-A/17735: Polycomb-Associated Non-Coding RNAs.
JD074833 - Sequence 55857 from Patent EP1572962.
JD129003 - Sequence 110027 from Patent EP1572962.
JD350458 - Sequence 331482 from Patent EP1572962.
MA620608 - JP 2018138019-A/192534: Polycomb-Associated Non-Coding RNAs.
MA571616 - JP 2018138019-A/143542: Polycomb-Associated Non-Coding RNAs.
MA571615 - JP 2018138019-A/143541: Polycomb-Associated Non-Coding RNAs.
MA571610 - JP 2018138019-A/143536: Polycomb-Associated Non-Coding RNAs.
MA445809 - JP 2018138019-A/17735: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000265070.1, ENST00000265070.2, ENST00000265070.3, ENST00000265070.4, ENST00000265070.5, ENST00000265070.6, GOLP3_HUMAN, GPP34, NM_022130, Q9H4A6, Q9UIW5, uc317hyd.1, uc317hyd.2
UCSC ID: ENST00000265070.7_7
RefSeq Accession: NM_022130.4
Protein: Q9H4A6 (aka GOLP3_HUMAN or GOP3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.