COG5 - component of oligomeric golgi complex 5 Gene

Also Known as CDG2I; GTC90; GOLTC1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10466

About COG5

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,201,372-107,563,920 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.2) and 25 other tissues.

Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

COG5 Products (9)

mRNA	Protein	Name
NM_001161520.2	NP_001154992.2	conserved oligomeric Golgi complex subunit 5 isoform 3
NM_001379511.1	NP_001366440.1	conserved oligomeric Golgi complex subunit 5 isoform 4
NM_001379512.1	NP_001366441.1	conserved oligomeric Golgi complex subunit 5 isoform 5
NM_001379513.1	NP_001366442.1	conserved oligomeric Golgi complex subunit 5 isoform 6
NM_001379514.1	NP_001366443.1	conserved oligomeric Golgi complex subunit 5 isoform 7
NM_001379515.1	NP_001366444.1	conserved oligomeric Golgi complex subunit 5 isoform 8
NM_001379516.1	NP_001366445.1	conserved oligomeric Golgi complex subunit 5 isoform 9
NM_006348.5	NP_006339.4	conserved oligomeric Golgi complex subunit 5 isoform 1
NM_181733.4	NP_859422.3	conserved oligomeric Golgi complex subunit 5 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	15047703	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	27066481	GOA
involved in glycosylation	IMP IMP: Inferred from mutant phenotype	27066481	GOA
acts upstream of or within inter-Golgi cisterna vesicle-mediated transport	IDA IDA: Inferred from direct assay	9792665	GOA
involved in retrograde transport, vesicle recycling within Golgi	IMP IMP: Inferred from mutant phenotype	27066481	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9792665	GOA
part of Golgi transport complex	IDA IDA: Inferred from direct assay	15047703	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COG5 Protein Structure

COG5

0
200
400
600
800
839 a.a.

Protein Preferred Names	Protein Names
conserved oligomeric Golgi complex subunit 5	13S golgi transport complex 1 90 kDa subunit

COG5 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	COG5	Q9UP83	COG4	Homo sapiens	Q9H9E3	Anti Tag CoIP	33961781
Intra	COG5	Q9UP83	COG4	Homo sapiens	Q9H9E3	CoIP	15047703
Intra	COG5	Q9UP83	COG7	Homo sapiens	P83436	CoIP	15047703
Intra	COG5	Q9UP83	COG7	Homo sapiens	P83436	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Cog5-Congenital Disorder Of Glycosylation	Carbohydrate Deficient Glycoprotein Syndrome Type Iii Cdg2i Cdgiii Congenital Disorder Of Glycosylation Type Iii Congenital Disorder Of Glycosylation, Type I-Iix Congenital Disorder Of Glycosylation, Type Iii
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
Saul-Wilson Syndrome	Microcephalic Osteodysplastic Dysplasia Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type SWILS Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Congenital Disorder Of Glycosylation, Type Iih	CDG2H Congenital Disorder Of Glycosylation Type Iih Cdg Iih Cdgiih Carbohydrate Deficient Glycoprotein Syndrome Type Iih Congenital Disorder Of Glycosylation Type 2h Cog8-Cdg Cdg-Iih Cdgiidh Cdg Syndrome Type Iih Congenital Disorder Of Glycosylation 2h Glycosylation, Congenital Disorder Of, Type Iih
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iig	CDG2G Congenital Disorder Of Glycosylation Type Iig Cdg Iig Cdgiig Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome Carbohydrate Deficient Glycoprotein Syndrome Type Iig Cdg-Iig Congenital Disorder Of Glycosylation, Type 2g Cog1-Cdg Cdg Syndrome Type Iig Congenital Disorder Of Glycosylation Type 2g Congenital Disorder Of Glycosylation 2g Cdg-Ii Caused By Cog1 Deficiency Glycosylation, Congenital Disorder Of, Type Iig
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Congenital Disorder Of Glycosylation, Type Iil	CDG2L Congenital Disorder Of Glycosylation Type Iil Cdg Iil Cog6-Cgd Cdgiil Cdg Syndrome Type Iil Congenital Disorder Of Glycosylation Type 2l Cdg-Iil Cdgiidl Congenital Disorder Of Glycosylation 2l Glycosylation, Congenital Disorder Of, Type Iil
Cone-Rod Dystrophy, X-Linked, 2	CORDX2 Cod2 X-Linked Cone-Rod Dystrophy 2 Cone Dystrophy 2, X-Linked Cone Dystrophy, Progressive X-Linked, 2 X-Linked Cone Dystrophy 2 Cone-Rod Dystrophy X-Linked 2 Cone Dystrophy X-Linked 2 Cone Dystrophy-2, X-Linked
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02954	COG5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	COG5	VGNC	VGNC:53634
Mus musculus	COG5	MGD	MGI:2145130
Rattus norvegicus	COG5	RGD	RGD:1563296
Macaca mulatta	COG5	VGNC	VGNC:71180
Canis familiaris	COG5	VGNC	VGNC:39451
Felis catus	COG5	VGNC	VGNC:61048
Others	COG5	NCBI