COG1 component of oligomeric golgi complex 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COG1provided by HGNC
Official Full Name: component of oligomeric golgi complex 1provided by HGNC
Primary source: HGNC:HGNC:6545
See related: Ensembl:ENSG00000166685 MIM:606973; AllianceGenome:HGNC:6545
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LDLB; CDG2G
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. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 14.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (73193055..73208507)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (74082780..74098235)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (71189194..71204646)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study reports a novel set of Dengue virus (DENV) NS1-interacting host cell proteins in the HepG2 cell line and proposes possible roles for human NEK2, TAO1, and COG1 in DENV infection.
Title: Mass spectrometric analysis of host cell proteins interacting with dengue virus nonstructural protein 1 in dengue virus-infected HepG2 cells.
Chronic renal patients with more atherogenic lipoprotein LDL B phenotype are in advanced state of oxidative stress compared with control subjects.
Title: Oxidative stress and hemoglobin-cholesterol adduct in renal patients with different LDL phenotypes.
A novel mutation in COG1 was found in two patients with a cerebrocostomandibular-like syndrome.
Title: Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp
Title: Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp.
These findings support the proposal that COG is directly involved in controlling vesicular retrograde transport of Golgi resident proteins throughout the Golgi apparatus.
Title: IntraGolgi distribution of the Conserved Oligomeric Golgi (COG) complex.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
COG1 congenital disorder of glycosylation MedGen: C2931011 OMIM: 611209 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52397 (e-PCR)
- UniSTS:78087

RH66230 (e-PCR)
- UniSTS:53048

A004R48 (e-PCR)
- UniSTS:62279

RH18160 (e-PCR)
- UniSTS:209612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi organization	NAS Non-traceable Author Statement more info	PubMed
involved_in glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intra-Golgi vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, vesicle recycling within Golgi	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of Golgi transport complex	IDA Inferred from Direct Assay more info	PubMed
part_of Golgi transport complex	NAS Non-traceable Author Statement more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: conserved oligomeric Golgi complex subunit 1

Names: COG complex subunit 1; conserved oligomeric Golgi complex protein 1; low density lipoprotein receptor defect B complementing

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.