• Gene id: 64083

Gene Summary

• Gene Symbol: GOLPH3   Gene   UCSC   Ensembl
• Aliases: GOPP1, GPP34, MIDAS, Vps74
• Gene name: golgi phosphoprotein 3
• Alternate names: Golgi phosphoprotein 3, coat protein GPP34, coat-protein, golgi peripheral membrane protein 1, 34 kDa, golgi protein, golgi-associated protein, mitochondrial DNA absence factor,
• Gene location: 5p13.3 (32174318: 32124710)     Exons: 6     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 612207

Protein Summary

• Protein general information: Q9H4A6  
  • Name: Golgi phosphoprotein 3 (Coat protein GPP34) (Mitochondrial DNA absence factor) (MIDAS)
  • Length: 298  
  • Mass: 33811
  • Tissue specificity: Detected in muscle fibers of patients with mitochondrial diseases; not detected in normal muscle fibers.
• Sequence:

  MTSLTQRSSGLVQRRTEASRNAADKERAAGGGAGSSEDDAQSRRDEQDDDDKGDSKETRLTLMEEVLLLGLKDRE
  GYTSFWNDCISSGLRGCMLIELALRGRLQLEACGMRRKSLLTRKVICKSDAPTGDVLLDEALKHVKETQPPETVQ
  NWIELLSGETWNPLKLHYQLRNVRERLAKNLVEKGVLTTEKQNFLLFDMTTHPLTNNNIKQRLIKKVQEAVLDKW
  VNDPHRMDRRLLALIYLAHASDVLENAFAPLLDEQYDLATKRVRQLLDLDPEVECLKANTNEVLWAVVAAFTK

• Structural information:
  • Interpro: IPR008628  IPR038261  
  • PDB: 3KN1
  • PDBsum: 3KN1
  • STRING: ENSP00000265070
• Other Databases: GeneCards:  GOLPH3  Malacards:  GOLPH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IMP	cellular component
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0090161	Golgi ribbon formation	IMP	biological process
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0090164	asymmetric Golgi ribbon formation	IMP	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0048194	Golgi vesicle budding	IBA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0007030	Golgi organization	IBA	biological process
GO:0031985	Golgi cisterna	IBA	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IBA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0031985	Golgi cisterna	IDA	cellular component
GO:0060352	cell adhesion molecule production	IMP	biological process
GO:0048194	Golgi vesicle budding	IMP	biological process
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0009101	glycoprotein biosynthetic process	IMP	biological process
GO:0050901	leukocyte tethering or rolling	IMP	biological process
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0045053	protein retention in Golgi apparatus	IMP	biological process
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0010467	gene expression	IMP	biological process
GO:0009306	protein secretion	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0010821	regulation of mitochondrion organization	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0072752	cellular response to rapamycin	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray