COPG1 (coat protein complex I subunit gamma 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 22820
• Gene name: Coat protein complex I subunit gamma 1
• Gene symbol: COPG1
• Synonyms (NCBI Gene): COPG, IMD128
• Chromosome: 3
• Chromosome location: 3q21.3

miRNA Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017439	hsa-miR-335-5p	Microarray	18185580
MIRT023687	hsa-miR-1-3p	Proteomics	18668040
MIRT023687	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT032263	hsa-let-7b-5p	Proteomics	18668040
MIRT051586	hsa-let-7e-5p	CLASH	23622248
MIRT049305	hsa-miR-92a-3p	CLASH	23622248
MIRT036123	hsa-miR-1296-5p	CLASH	23622248
MIRT440911	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT389726	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440911	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT389726	hsa-miR-142-3p	HITS-CLIP	22473208

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	14527956, 25036637, 26618866, 29924966, 31324722, 33961781, 35156780, 35271311, 36012204
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0009306	Process	Protein secretion	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030117	Component	Membrane coat	IEA
GO:0030126	Component	COPI vesicle coat	IBA
GO:0030126	Component	COPI vesicle coat	IEA
GO:0030126	Component	COPI vesicle coat	ISS
GO:0030133	Component	Transport vesicle	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030663	Component	COPI-coated vesicle membrane	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0051683	Process	Establishment of Golgi localization	IEA
GO:0051683	Process	Establishment of Golgi localization	ISS
GO:0072384	Process	Organelle transport along microtubule	IBA
GO:0072384	Process	Organelle transport along microtubule	IEA
GO:0072384	Process	Organelle transport along microtubule	ISS

Other IDs

• MIM: 615525
• HGNC: 2236
• e!Ensembl: ENSG00000181789

Protein

• UniProt ID: Q9Y678
• Protein name: Coatomer subunit gamma-1 (Gamma-1-coat protein) (Gamma-1-COP)
• Protein function: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi ne
• PDB: 1R4X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01602	Adaptin_N	23 → 539	Adaptin N terminal region	Family
  PF08752	COP-gamma_platf	611 → 759	Coatomer gamma subunit appendage platform subdomain	Domain
  PF16381	Coatomer_g_Cpla	761 → 873	Coatomer subunit gamma-1 C-terminal appendage platform	Domain

• Sequence:

  MLKKFDKKDEESGGGSNPFQHLEKSAVLQEARVFNETPINPRKCAHILTKILYLINQGEH
  LGTTEATEAFFAMTKLFQSNDPTLRRMCYLTIKEMSCIAEDVIIVTSSLTKDMTGKEDNY
  RGPAVRALCQITDSTMLQAIERYMKQAIVDKVPSVSSSALVSSLHLLKCSFDVVKRWVNE
  AQEAASSDNIMVQYHALGLLYHVRKNDRLAVNKMISKVTRHGLKSPFAYCMMIRVASKQL
  EEEDGSRDSPLFDFIESCLRNKHEMVVYEAASAIVNLPGCSAKELAPAVSVLQLFCSSPK
  AALRYAAVRTLNKVAMKHPSAVTACNLDLENLVTDSNRSIATLAITTLLKTGSESSIDRL
  MKQISSFMSEISDEFKVVVVQAISALCQKYPRKHAVLMNFLFTMLREEGGFEYKRAIVDC
  IISIIEENSESKETGLSHLCEFIEDCEFTVLATRILHLLGQEGPKTTNPSKYIRFIYNRV
  VLEHEEVRAGAVSALAKFGAQNEEMLPSILVLLKRCVMDDDNEVRDRATFYLNVLEQKQK
  ALNAGYILNGLTVSIPGLERALQQYTLEPSEKPFDLKSVPLATAPMAEQRTESTPITAVK
  QPEKVAATRQEIFQEQLAAVPEFRGLGPLFKSSPEPVALTESETEYVIRCTKHTFTNHMV
  FQFDCTNTLNDQTLENVTVQMEPTEAYEVLCYVPARSLPYNQPGTCYTLVALPKEDPTAV
  ACTFSCMMKFTVKDCDPTTGETDDEGYEDEYVLEDLEVTVADHIQKVMKLNFEAAWDEVG
  DEFEKEETFTLSTIKTLEEAVGNIVKFLGMHPCERSDKVPDNKNTHTLLLAGVFRGGHDI
  LVRSRLLLLDTVTMQVTARSLEELPVDIILASVG

• Sequence length: 874

Pathways

Reactome Pathway

COPI-mediated anterograde transport

COPI-dependent Golgi-to-ER retrograde traffic

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40050429	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 128	—	ClinVar, HPO ClinVar, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	26463840	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
non-severe combined immunodeficiency due to COPG1 deficiency	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256, 38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33850477	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25220188		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	26463840		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26463840		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COPE 2 shared pathwaysCOPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic Related via 2 shared pathways including COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic. COPA 2 shared pathwaysCOPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic Related via 2 shared pathways including COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic. COPB1 2 shared pathwaysCOPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic Related via 2 shared pathways including COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic. COPZ1 2 shared pathwaysCOPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic Related via 2 shared pathways including COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic. TMED3 2 shared pathwaysCOPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic Related via 2 shared pathways including COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COPE	0	[]	2	["COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic"]	0	[]
COPA	0	[]	2	["COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic"]	0	[]
COPB1	0	[]	2	["COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic"]	0	[]
COPZ1	0	[]	2	["COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic"]	0	[]
TMED3	0	[]	2	["COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic"]	0	[]

Diseases Linked via Similar Genes

Ankylosing spondylitis Linked via 1 of 5 related genesCOPA Arthritis Linked via 1 of 5 related genesCOPA Autoimmune disease Linked via 1 of 5 related genesCOPA Autoimmune interstitial lung disease-arthritis syndrome Linked via 1 of 5 related genesCOPA Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 Linked via 1 of 5 related genesCOPA

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Ankylosing spondylitis	1	["COPA"]
Arthritis	1	["COPA"]
Autoimmune disease	1	["COPA"]
Autoimmune interstitial lung disease-arthritis syndrome	1	["COPA"]
Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	1	["COPA"]