FertilityOnline | Spermatogenes

Detail Information of SG000466

General information

SG ID

SG000466

Gene Name

Cog7

Gene Synonyms/Alias

Dmel_CG31040, CG31040, CG7880, DmelCG31040

Organism

Drosophila melanogaster

NCBI Taxonomy ID

7227

Ensembl Gene ID

FBgn0051040

Ensembl Protein ID

FBpp0084875

Description

CG31040 gene product from transcript CG31040-RA [Drosophila melanogaster (fruit fly)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Dictyostelium discoideum	Q54LC8	dictyBase:DDB_G0286705	cog7
Arabidopsis thaliana	Q9FGN0	TAIR:AT5G51430	EYE

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage	meiotic
Function in Cell Type	Spermatocyte
The information of related literature	1. Abstract The conserved oligomeric Golgi (COG) complex plays essential roles in Golgi function, vesicle trafficking and glycosylation. Deletions in the human COG7 gene are associated with a rare multisystemic congenital disorder of glycosylation ... PMID: [22946051]
Figures for illustrating the function of this protein/gene	Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051] Belloni, G., Sechi, S., Riparbelli, M. G., Fuller, M. T., Callaini, G. and Giansanti, M. G. (2012) Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis. J Cell Sci 125(Pt 22): 5441-52. PMID: [22946051]
Functional description	The conserved oligomeric Golgi (COG) Complex is required for Golgi integrity, vesicle trafficking and glycosylation in yeast and mammalian cells. Deletions in the human COG7 gene are associated with a rare multisystemic congenital disorder of glycosylation that causes mortality within the first year of life. Cog7 gene product is enriched in the Golgi stacks and in Golgi-derived structures throughout spermatogenesis. During spermiogenesis, loss of the Cog7 protein impairs the assembly of the Golgi-derived acroblast in spermatids and affects axoneme architecture
Protein complex
Pathway	ReactomeID: R-DME-6811438 Intra-Golgi traffic
Human diseases
OMIM
Spermatogenesis failure	N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in thyroid gland
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatocyte
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Golgi apparatus membrane

Mutation in human orthology

Variants founded in public databases

1000G (Phase 3): 1580 ESP6500 (SI-V2): 185 ExAC (r0.3.1): 766 dbSNP(Build 147): 3865

Variants founded in in-house datasets

Chinese health control (254): 9 European health control (283): 4 Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
COG7	0.000036	0.000037899

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:1904355	actomyosin contractile ring contraction	IMP
Biological Process	GO:1904355	intracellular protein transport	IEA
Biological Process	GO:1904355	retrograde vesicle-mediated transport, Golgi to ER	IBA
Biological Process	GO:1904355	intra-Golgi vesicle-mediated transport	ISS
Biological Process	GO:1904355	Golgi organization	IMP
Biological Process	GO:1904355	male meiosis cytokinesis	IMP
Cellular Component	GO:1990023	Golgi membrane	IEA
Cellular Component	GO:1990023	Golgi apparatus	ISS
Cellular Component	GO:1990023	Golgi transport complex	IEA
Cellular Component	GO:1990023	acroblast	IDA

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000058990	Cog7	ENSMUSP00000061317	Vps53	predicted
ENSMUSP00000058990	Cog7	ENSMUSP00000062771	Rasef	predicted
ENSMUSP00000058990	Cog7	ENSMUSP00000063054	Rab33b	experimental

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Protein family and Domain

Q9VAD6