COG1 (component of oligomeric golgi complex 1)

Gene

• Entrez ID: 9382
• Gene name: Component of oligomeric golgi complex 1
• Gene symbol: COG1
• Synonyms (NCBI Gene): CDG2G, LDLB
• Chromosome: 17
• Chromosome location: 17q25.1
• 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-ass

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs185592690	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201263432	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs747606976	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs1555725221	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555725363	->CCTGGTAATAAAATGAC	Likely-pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1568296260	G>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045480	hsa-miR-149-5p	CLASH	23622248
MIRT042242	hsa-miR-484	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	NAS	27066481
GO:0000139	Component	Golgi membrane	TAS
GO:0000301	Process	Retrograde transport, vesicle recycling within Golgi	IMP	27066481
GO:0005515	Function	Protein binding	IPI	15047703, 33961781
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	11980916
GO:0005794	Component	Golgi apparatus	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	NAS	11980916
GO:0007030	Process	Golgi organization	IMP	27066481
GO:0007030	Process	Golgi organization	NAS	11980916
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0017119	Component	Golgi transport complex	IEA
GO:0017119	Component	Golgi transport complex	NAS	11980916, 27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070085	Process	Glycosylation	IMP	27066481

Other IDs

• MIM: 606973
• HGNC: 6545
• e!Ensembl: ENSG00000166685

Protein

• UniProt ID: Q8WTW3
• Protein name: Conserved oligomeric Golgi complex subunit 1 (COG complex subunit 1) (Component of oligomeric Golgi complex 1)
• Protein function: Required for normal Golgi function.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08700	Vps51	13 → 93		Family

• Sequence:

  MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLI
  EAADTIGQMRRCAVGLVDAVKATDQYCARLRQAGSAAPRPPRAQQPQQPSQEKFYSMAAQ
  IKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLDSSSSRYSPVLSRFPILIRQV
  AAASHFRSTILHESKMLLKCQGVSDQAVAEALCSIMLLEESSPRQALTDFLLARKATIQK
  LLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITG
  QHPAGKGTGVLQEEMKLCSWFKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNE
  DIKNGITNLLMYVKSMKGLAGIRDAMWELLTNESTNHSWDVLCRRLLEKPLLFWEDMMQQ
  LFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESP
  NDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKLKVKLDDLLAYLPSDD
  SSLPKDVSPTQAKSSAFDRYADAGTVQEMLRTQSVACIKHIVDCIRAELQSIEEGVQGQQ
  DALNSAKLHSVLFMARLCQSLGELCPHLKQCILGKSESSEKPAREFRALRKQGKVKTQEI
  IPTQAKWQEVKEVLLQQSVMGYQVWSSAVVKVLIHGFTQSLLLDDAGSVLATATSWDELE
  IQEEAESGSSVTSKIRLPAQPSWYVQSFLFSLCQEINRVGGHALPKVTLQEMLKSCMVQV
  VAAYEKLSEEKQIKKEGAFPVTQNRALQLLYDLRYLNIVLTAKGDEVKSGRSKPDSRIEK
  VTDHLEALIDPFDLDVFTPHLNSNLHRLVQRTSVLFGLVTGTENQLAPRSSTFNSQEPHN
  ILPLASSQIRFGLLPLSMTSTRKAKSTRNIETKAQVVPPARSTAGDPTVPGSLFRQLVSE
  EDNTSAPSLFKLGWLSSMTK

• Sequence length: 980

Pathways

Reactome:

COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
COG1 congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2145097019, rs1568296260, rs773341615, rs758521897, rs2061375797, rs2061310130, rs771513054, rs2511081455, rs747606976, rs1227032564	RCV002022121 RCV000003840 RCV002650955 RCV002801336 RCV002858696 RCV002876073 RCV003008412 RCV003610058 RCV000990056 RCV001202775
Nephrotic syndrome	Pathogenic	rs1568296260	RCV001849253

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs144989249	RCV005894663
COG1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs117344829, rs146066919, rs117208167, rs755596131, rs141750466, rs764179964, rs759405408, rs533834836, rs748732950, rs781686684, rs773716192	RCV003935064 RCV003905066 RCV003925076 RCV003961310 RCV003909877 RCV003949084 RCV003951758 RCV003934764 RCV003910239 RCV003962828 RCV003950831
Congenital disorder of glycosylation	Uncertain significance; Benign	rs774720405, rs566018587, rs3764359, rs140691967, rs751458075	RCV000358768 RCV000365253 RCV000310547 RCV000402187 RCV000266001
Familial cancer of breast	Benign; Likely benign	rs1010442, rs374132938, rs144989249	RCV005925085 RCV005868555 RCV005894662
Gastric cancer	Benign; Likely benign	rs144989249	RCV005894665
Hepatocellular carcinoma	Benign	rs1010442	RCV005925086
Intellectual disability	Benign; Likely benign	rs117344829	RCV005625284
Lung cancer	Benign; Likely benign	rs144989249	RCV005894667
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs144989249	RCV005894666
Prostate cancer	Uncertain significance	rs193921130, rs193920973	RCV000149258 RCV000149259
Sarcoma	Benign; Likely benign	rs144989249	RCV005894664

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Renal Cell	Associate	34539936
Congenital disorder of glycosylation type 2G	Inhibit	16537452
Congenital disorder of glycosylation type 2G	Associate	16537452
Congenital disorder of glycosylation type II	Associate	16537452
Esophageal Squamous Cell Carcinoma	Associate	37488513
Multiple Organ Failure	Associate	19690088
Nervous System Diseases	Associate	19690088