COPB1 - COPI coat complex subunit beta 1 Gene

Also Known as COPB; BARMACS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1315

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

Adaptin_N: Adaptin N terminal region (24 - 528)

Coatamer_beta_C

Coatamer_beta_C: Coatomer beta C-terminal region (666 - 808)

Coatomer_b_Cpla

Coatomer_b_Cpla: Coatomer beta subunit appendage platform (813 - 945)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 953 a.a.
Protein Preferred Names Protein Names

coatomer subunit beta

  • beta coat protein

COPB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
COPB1 P53618 SUN2 Homo sapiens Q9UH99 20551905
Intra
COPB1 P53618 GTPBP4 Homo sapiens Q9BZE4 32296183
Intra
COPB1 P53618 GTPBP4 Homo sapiens Q9BZE4 32296183
Intra
COPB1 P53618 GTPBP4 Homo sapiens Q9BZE4 32296183
Intra
COPB1 P53618 LZTS1 Homo sapiens Q9Y250 32296183
Intra
COPB1 P53618 LZTS1 Homo sapiens Q9Y250 32296183
Intra
COPB1 P53618 LZTS1 Homo sapiens Q9Y250 32296183
Intra
COPB1 P53618 KIAA1328 Homo sapiens Q86T90 32296183
Intra
COPB1 P53618 KIAA1328 Homo sapiens Q86T90 32296183
Intra
COPB1 P53618 KIAA1328 Homo sapiens Q86T90 32296183
Intra
COPB1 P53618 HTT Homo sapiens P42858
Y2H
17500595
Intra
COPB1 P53618 BCAR1 Homo sapiens P56945 32296183
Intra
COPB1 P53618 BCAR1 Homo sapiens P56945 32296183
Intra
COPB1 P53618 BCAR1 Homo sapiens P56945 32296183
Intra
COPB1 P53618 TRIM37 Homo sapiens O94972 32296183
Intra
COPB1 P53618 TRIM37 Homo sapiens O94972 16189514
Intra
COPB1 P53618 TRIM37 Homo sapiens O94972 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others COPB1 NCBI