COPB1 - COPI coat complex subunit beta 1 Gene

Homo sapiens

Also known as COPB; BARMACS

Gene ID: 1315 | Gene type: protein coding

About COPB1

Cytogenetic location: 11p15.2 Genomic coordinates (GRCh38): 11:14,457,512-14,499,811 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 49.1), prostate (RPKM 35.6) and 25 other tissues.

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 triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

COPB1 Products(6)

mRNA	Protein	Name
NM_001144061.2	NP_001137533.1	coatomer subunit beta
NM_001144062.2	NP_001137534.1	coatomer subunit beta
NM_016451.5	NP_057535.1	coatomer subunit beta
NM_001144061.2	NP_001137533.1	coatomer subunit beta
NM_001144062.2	NP_001137534.1	coatomer subunit beta
NM_016451.5	NP_057535.1	coatomer subunit beta

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10199403	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	7573041	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COPB1 Protein Structure

Adaptin_N

Coatamer_beta_C

Coatomer_b_Cpla

0
200
400
600
800
953 a.a.

Protein Preferred Names

Protein Names

coatomer subunit beta

beta coat protein

Related Diseases

Diseases

Alias

Baralle-Macken Syndrome

BARMACS

Neurodevelopmental Disorder With Cataracts And Variable Microcephaly

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Parainfluenza Virus Type 3

Human Parainfluenza Virus Type 3

Piv3

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Suppurative Otitis Media

Otitis Media With Effusion - Purulent	Purulent Otitis Media
Otitis Media, Suppurative

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03022	COPB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COPB1	RGD	RGD:620861
Canis familiaris	COPB1	VGNC	VGNC:39504
Macaca mulatta	COPB1	VGNC	VGNC:71312
Mus musculus	COPB1	MGD	MGI:1917599
Bos taurus	COPB1	VGNC	VGNC:27593
Felis catus	COPB1	VGNC	VGNC:61082

Name
Email *

	Sorry, but the email address you supplied was invalid.