GeneID: 160



Names

Common Name: GOLGB1 Type: Gene
Chromosome: 3 (NC_000003.12) Locus: N/A
HUGO Symbol: GOLGB1 Full Name: golgin B1
Exons: 21 Introns: 20

Description:
The encoded protein belongs to a family of coiled-coil proteins known as giantins, which play an important role in the regulation of Golgi apparatus structure and function. GOLGB1 is localised to the Golgi apparatus via a C-terminal membrane-anchoring domain (CMD). It mediates tethering of vesicles at the Golgi membrane and subsequent transport of their cargo through the Golgi stacks. The Y1212C mutation, located in a highly conserved coiled-coil region of the N-terminus, was shown to confer a protective effect against ischemic stroke in individuals with sickle cell disease. Other mutations in this gene associated with osteochondrodysplasia.

Synonyms: GCP , GCP372 , GOLIM1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Katayama K, Sasaki T, Goto S, Ogasawara K, Maru H, Suzuki K, Suzuki H, Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat., Bone , 49(5), 1027-36, 2011 PubMed
  2. Koreishi M, Gniadek TJ, Yu S, Masuda J, Honjo Y, Satoh A, The golgin tether giantin regulates the secretory pathway by controlling stack organization within Golgi apparatus., PLoS ONE , 8(3), e59821, 2013 PubMed
  3. Flanagan JM, Sheehan V, Linder H, Howard TA, Wang YD, Hoppe CC, Aygun B, Adams RJ, Neale GA, Ware RE, Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia., Blood , 121(16), 3237-45, 2013 PubMed
Created on 2016-07-20 13:02:37, Last reviewed on 2016-07-21 09:07:27 (Show full history)


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