COPB1 (coat protein complex I subunit beta 1)

Gene

• Entrez ID: 1315
• Gene name: Coat protein complex I subunit beta 1
• Gene symbol: COPB1
• Synonyms (NCBI Gene): BARMACS, COPB
• Chromosome: 11
• Chromosome location: 11p15.2
• Summary: This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosph

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023931	hsa-miR-1-3p	Proteomics	18668040
MIRT023931	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050181	hsa-miR-26a-5p	CLASH	23622248
MIRT045323	hsa-miR-185-5p	CLASH	23622248
MIRT044867	hsa-miR-195-5p	CLASH	23622248
MIRT038294	hsa-miR-130b-5p	CLASH	23622248
MIRT903813	hsa-miR-4291	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903815	hsa-miR-4330	CLIP-seq
MIRT903816	hsa-miR-4680-5p	CLIP-seq
MIRT903817	hsa-miR-548l	CLIP-seq
MIRT903818	hsa-miR-548n	CLIP-seq
MIRT903819	hsa-miR-647	CLIP-seq
MIRT903820	hsa-miR-944	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903822	hsa-miR-1182	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903824	hsa-miR-1263	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903826	hsa-miR-193a-5p	CLIP-seq
MIRT903827	hsa-miR-208a	CLIP-seq
MIRT903828	hsa-miR-208b	CLIP-seq
MIRT903829	hsa-miR-3617	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903831	hsa-miR-410	CLIP-seq
MIRT903813	hsa-miR-4291	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903832	hsa-miR-4318	CLIP-seq
MIRT903815	hsa-miR-4330	CLIP-seq
MIRT903833	hsa-miR-4528	CLIP-seq
MIRT903816	hsa-miR-4680-5p	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903835	hsa-miR-4693-5p	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT903837	hsa-miR-4775	CLIP-seq
MIRT903838	hsa-miR-494	CLIP-seq
MIRT903839	hsa-miR-499-5p	CLIP-seq
MIRT903817	hsa-miR-548l	CLIP-seq
MIRT903818	hsa-miR-548n	CLIP-seq
MIRT903840	hsa-miR-590-3p	CLIP-seq
MIRT903841	hsa-miR-641	CLIP-seq
MIRT903819	hsa-miR-647	CLIP-seq
MIRT903842	hsa-miR-892a	CLIP-seq
MIRT903820	hsa-miR-944	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903833	hsa-miR-4528	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT903838	hsa-miR-494	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903831	hsa-miR-410	CLIP-seq
MIRT903813	hsa-miR-4291	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903815	hsa-miR-4330	CLIP-seq
MIRT903816	hsa-miR-4680-5p	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT2427939	hsa-miR-1289	CLIP-seq
MIRT2427940	hsa-miR-3198	CLIP-seq
MIRT2427941	hsa-miR-4294	CLIP-seq
MIRT2427942	hsa-miR-4309	CLIP-seq
MIRT2427943	hsa-miR-4712-5p	CLIP-seq
MIRT2427944	hsa-miR-4781-3p	CLIP-seq
MIRT2427945	hsa-miR-770-5p	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903827	hsa-miR-208a	CLIP-seq
MIRT903828	hsa-miR-208b	CLIP-seq
MIRT903829	hsa-miR-3617	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT903833	hsa-miR-4528	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT903837	hsa-miR-4775	CLIP-seq
MIRT903838	hsa-miR-494	CLIP-seq
MIRT903839	hsa-miR-499-5p	CLIP-seq
MIRT903840	hsa-miR-590-3p	CLIP-seq
MIRT903841	hsa-miR-641	CLIP-seq
MIRT903821	hsa-miR-1179	CLIP-seq
MIRT903823	hsa-miR-1224-5p	CLIP-seq
MIRT903825	hsa-miR-1304	CLIP-seq
MIRT903827	hsa-miR-208a	CLIP-seq
MIRT903828	hsa-miR-208b	CLIP-seq
MIRT2678452	hsa-miR-3153	CLIP-seq
MIRT903829	hsa-miR-3617	CLIP-seq
MIRT903830	hsa-miR-3915	CLIP-seq
MIRT903814	hsa-miR-4310	CLIP-seq
MIRT2678453	hsa-miR-4475	CLIP-seq
MIRT2678454	hsa-miR-4477b	CLIP-seq
MIRT903833	hsa-miR-4528	CLIP-seq
MIRT903834	hsa-miR-4689	CLIP-seq
MIRT903836	hsa-miR-4751	CLIP-seq
MIRT903837	hsa-miR-4775	CLIP-seq
MIRT903838	hsa-miR-494	CLIP-seq
MIRT903839	hsa-miR-499-5p	CLIP-seq
MIRT903840	hsa-miR-590-3p	CLIP-seq
MIRT903841	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS	1840503
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	10199403, 11520457, 12582157, 16189514, 17500595, 18556652, 20551905, 22555292, 24806965, 25036637, 29021621, 30352685, 30670146, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IDA	7573041
GO:0005794	Component	Golgi apparatus	IEA
GO:0005798	Component	Golgi-associated vesicle	IEA
GO:0005798	Component	Golgi-associated vesicle	TAS	1840503
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	1840503
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	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:0006891	Process	Intra-Golgi vesicle-mediated transport	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
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	TAS
GO:0030137	Component	COPI-coated vesicle	IEA
GO:0030663	Component	COPI-coated vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 600959
• HGNC: 2231
• e!Ensembl: ENSG00000129083

Protein

• UniProt ID: P53618
• Protein name: Coatomer subunit beta (Beta-coat protein) (Beta-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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01602	Adaptin_N	18 → 533	Adaptin N terminal region	Family
  PF07718	Coatamer_beta_C	667 → 807	Coatomer beta C-terminal region	Domain
  PF14806	Coatomer_b_Cpla	813 → 944	Coatomer beta subunit appendage platform	Domain

• Sequence:

  MTAAENVCYTLINVPMDSEPPSEISLKNDLEKGDVKSKTEALKKVIIMILNGEKLPGLLM
  TIIRFVLPLQDHTIKKLLLVFWEIVPKTTPDGRLLHEMILVCDAYRKDLQHPNEFIRGST
  LRFLCKLKEAELLEPLMPAIRACLEHRHSYVRRNAVLAIYTIYRNFEHLIPDAPELIHDF
  LVNEKDASCKRNAFMMLIHADQDRALDYLSTCIDQVQTFGDILQLVIVELIYKVCHANPS
  ERARFIRCIYNLLQSSSPAVKYEAAGTLVTLSSAPTAIKAAAQCYIDLIIKESDNNVKLI
  VLDRLIELKEHPAHERVLQDLVMDILRVLSTPDLEVRKKTLQLALDLVSSRNVEELVIVL
  KKEVIKTNNVSEHEDTDKYRQLLVRTLHSCSVRFPDMAANVIPVLMEFLSDNNEAAAADV
  LEFVREAIQRFDNLRMLIVEKMLEVFHAIKSVKIYRGALWILGEYCSTKEDIQSVMTEIR
  RSLGEIPIVESEIKKEAGELKPEEEITVGPVQKLVTEMGTYATQSALSSSRPTKKEEDRP
  PLRGFLLDGDFFVAASLATTLTKIALRYVALVQEKKKQNSFVAEAMLLMATILHLGKSSL
  PKKPITDDDVDRISLCLKVLSECSPLMNDIFNKECRQSLSHMLSAKLEEEKLSQKKESEK
  RNVTVQPDDPISFMQLTAKNEMNCKEDQFQLSLLAAMGNTQRKEAADPLASKLNKVTQLT
  GFSDPVYAEAYVHVNQYDIVLDVLVVNQTSDTLQNCTLELATLGDLKLVEKPSPLTLAPH
  DFANIKANVKVASTENGIIFGNIVYDVSGAASDRNCVVLSDIHIDIMDYIQPATCTDAEF
  RQMWAEFEWENKVTVNTNMVDLNDYLQHILKSTNMKCLTPEKALSGYCGFMAANLYARSI
  FGEDALANVSIEKPIHQGPDAAVTGHIRIRAKSQGMALSLGDKINLSQKKTSI

• Sequence length: 953

Pathways

Reactome:

Neutrophil degranulation
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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Baralle-Macken syndrome	Likely pathogenic; Pathogenic	rs1850695885, rs1850476947	RCV001354045 RCV001354046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract	Likely pathogenic; Pathogenic	rs1850695885, rs1850476947	RCV001290300 RCV001290321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic	rs2493876974	RCV002292384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive	Pathogenic	rs2493876974	RCV002292384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency	Pathogenic	rs1850476947	RCV001290321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs1850695885, rs1850476947	RCV001290300 RCV001290321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs1850695885, rs1850476947	RCV001290300 RCV001290321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Pathogenic	rs2493876974	RCV002292384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Pathogenic	rs2493876974	RCV002292384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-EARLY-ONSET CATARACT-MICROCEPHALY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Fibular hypoplasia and complex brachydactyly	Associate	32986658	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Associate	11415452	★☆☆☆☆ Found in Text Mining only
Infections	Associate	37758692	★☆☆☆☆ Found in Text Mining only
Influenza Human	Associate	37758692	★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Associate	11415452	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	32986658	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Inhibit	25342854	★☆☆☆☆ Found in Text Mining only