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 RefSe... See more...

Aliases for COG1 Gene

Aliases for COG1 Gene

  • Component Of Oligomeric Golgi Complex 1 2 3 4 5
  • Low Density Lipoprotein Receptor Defect B Complementing 2 3
  • Conserved Oligomeric Golgi Complex Subunit 1 3 4
  • COG Complex Subunit 1 3 4
  • KIAA1381 2 4
  • LDLB 3 4
  • Conserved Oligomeric Golgi Complex Protein 1 3
  • CDG2G 3
  • COG1 5

External Ids for COG1 Gene

Previous HGNC Symbols for COG1 Gene

  • LDLB

Previous GeneCards Identifiers for COG1 Gene

  • GC17P071074
  • GC17P074229
  • GC17P071653
  • GC17P071786
  • GC17P068700
  • GC17P071189
  • GC17P066598

Summaries for COG1 Gene

Entrez Gene Summary for COG1 Gene

  • 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]

GeneCards Summary for COG1 Gene

COG1 (Component Of Oligomeric Golgi Complex 1) is a Protein Coding gene. Diseases associated with COG1 include Congenital Disorder Of Glycosylation, Type Iig and Cerebrocostomandibular-Like Syndrome. Among its related pathways are Intra-Golgi traffic and Transport to the Golgi and subsequent modification.

UniProtKB/Swiss-Prot Summary for COG1 Gene

Gene Wiki entry for COG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COG1 Gene

Genomics for COG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COG1

Top Transcription factor binding sites by QIAGEN in the COG1 gene promoter:
  • AP-1
  • c-Ets-1
  • E2F
  • E2F-1
  • Evi-1
  • ISGF-3
  • MIF-1
  • POU3F2
  • RP58
  • Tal-1beta

Genomic Locations for COG1 Gene

Genomic Locations for COG1 Gene
chr17:73,192,632-73,208,507
(GRCh38/hg38)
Size:
15,876 bases
Orientation:
Plus strand
chr17:71,189,129-71,204,646
(GRCh37/hg19)
Size:
15,518 bases
Orientation:
Plus strand

Genomic View for COG1 Gene

Genes around COG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG1 Gene

Proteins for COG1 Gene

  • Protein details for COG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTW3-COG1_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 1
    Protein Accession:
    Q8WTW3
    Secondary Accessions:
    • Q9NPV9
    • Q9P2G6

    Protein attributes for COG1 Gene

    Size:
    980 amino acids
    Molecular mass:
    108978 Da
    Quaternary structure:
    • Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.
    SequenceCaution:
    • Sequence=BAA92619.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for COG1 Gene

Post-translational modifications for COG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COG1 Gene

No data available for DME Specific Peptides for COG1 Gene

Domains & Families for COG1 Gene

Gene Families for COG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for COG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG1 Gene

GenScript: Design optimal peptide antigens:
  • Component of oligomeric Golgi complex 1 (COG1_HUMAN)
  • COG1 protein (Q4G0L8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WTW3

UniProtKB/Swiss-Prot:

COG1_HUMAN :
  • Belongs to the COG1 family.
Family:
  • Belongs to the COG1 family.
genes like me logo Genes that share domains with COG1: view

Function for COG1 Gene

Molecular function for COG1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi function.

Phenotypes From GWAS Catalog for COG1 Gene

Gene Ontology (GO) - Molecular Function for COG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15047703
genes like me logo Genes that share ontologies with COG1: view
genes like me logo Genes that share phenotypes with COG1: view

Human Phenotype Ontology for COG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for COG1 Gene

miRTarBase miRNAs that target COG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COG1 Gene

Localization for COG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG1 Gene

Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COG1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
nucleus 2
endosome 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for COG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA,IDA 11980916
GO:0016020 membrane IEA --
GO:0017119 Golgi transport complex IEA,NAS 11980916
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with COG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COG1 Gene

Pathways & Interactions for COG1 Gene

genes like me logo Genes that share pathways with COG1: view

Gene Ontology (GO) - Biological Process for COG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IEA,NAS 11980916
GO:0007030 Golgi organization NAS 11980916
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COG1: view

No data available for SIGNOR curated interactions for COG1 Gene

Drugs & Compounds for COG1 Gene

No Compound Related Data Available

Transcripts for COG1 Gene

mRNA/cDNA for COG1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG1

Alternative Splicing Database (ASD) splice patterns (SP) for COG1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for COG1 Gene

GeneLoc Exon Structure for
COG1

Expression for COG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COG1 Gene

Protein differential expression in normal tissues from HIPED for COG1 Gene

This gene is overexpressed in Bone (58.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COG1 Gene



Protein tissue co-expression partners for COG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COG1

SOURCE GeneReport for Unigene cluster for COG1 Gene:

Hs.103555

Evidence on tissue expression from TISSUES for COG1 Gene

  • Nervous system(4.8)
  • Lung(4.4)
  • Skin(2.3)
  • Muscle(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
Pelvis:
  • ovary
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COG1 Gene

Orthologs for COG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COG1 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COG1 30 31
  • 88.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cog1 30 17 31
  • 84.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cog1 30
  • 84.03 (n)
Cow
(Bos Taurus)
Mammalia COG1 30 31
  • 83.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COG1 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COG1 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COG1 30 31
  • 71.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COG1 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cog1 30
  • 63.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12935 30
Zebrafish
(Danio rerio)
Actinopterygii cog1 30 31
  • 62.15 (n)
OneToOne
wuft63e05 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12436 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4848 30 31
  • 42.34 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001322 30
  • 41.42 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G16300 30
  • 41.68 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0777000 30
  • 42.98 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToOne
Species where no ortholog for COG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COG1 Gene

ENSEMBL:
Gene Tree for COG1 (if available)
TreeFam:
Gene Tree for COG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COG1: view image

Paralogs for COG1 Gene

Pseudogenes.org Pseudogenes for COG1 Gene

genes like me logo Genes that share paralogs with COG1: view

No data available for Paralogs for COG1 Gene

Variants for COG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COG1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
644686 Uncertain Significance: COG1 congenital disorder of glycosylation 73,208,437(+) A/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
648066 Uncertain Significance: COG1 congenital disorder of glycosylation 73,203,109(+) GC/CA MISSENSE_VARIANT
662087 Uncertain Significance: COG1 congenital disorder of glycosylation 73,199,939(+) G/A MISSENSE_VARIANT
697964 Likely Benign: not provided 73,201,739(+) A/C MISSENSE_VARIANT
702106 Benign: COG1 congenital disorder of glycosylation 73,203,642(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COG1 Gene

Variant ID Type Subtype PubMed ID
esv2104946 CNV deletion 18987734
esv2716191 CNV deletion 23290073
nsv833534 CNV loss 17160897

Variation tolerance for COG1 Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COG1 Gene

Human Gene Mutation Database (HGMD)
COG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG1 Gene

Disorders for COG1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for COG1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

COG1_HUMAN
  • Congenital disorder of glycosylation 2G (CDG2G) [MIM:611209]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. {ECO:0000269 PubMed:16537452}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with COG1: view

No data available for Genatlas for COG1 Gene

Publications for COG1 Gene

  1. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. (PMID: 16537452) Foulquier F … Matthijs G (Proceedings of the National Academy of Sciences of the United States of America 2006) 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D … Waters MG (The Journal of cell biology 2002) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. Expression cloning of LDLB, a gene essential for normal Golgi function and assembly of the ldlCp complex. (PMID: 9927668) Chatterton JE … Krieger M (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3

Products for COG1 Gene

Sources for COG1 Gene