Giantin

GOLGB1
Identifiers
AliasesGOLGB1, GCP, GCP372, GOLIM1, golgin B1
External IDsOMIM: 602500; MGI: 1099447; HomoloGene: 68401; GeneCards: GOLGB1; OMA:GOLGB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

2804

224139

Ensembl

ENSG00000173230

ENSMUSG00000034243

UniProt

Q14789

n/a

RefSeq (mRNA)

NM_030035

RefSeq (protein)

n/a

Location (UCSC)Chr 3: 121.66 – 121.75 MbChr 16: 36.7 – 36.75 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Giantin or Golgin subfamily B member 1 is a protein that in humans is encoded by the GOLGB1 gene. Giantin is located at the cis-medial rims of the Golgi apparatus and is part of the Golgi matrix that is responsible for membrane trafficking in secretory pathway of proteins. This function is key for proper localisation of proteins at the plasma membrane and outside the cell (extracellular region) which is important for cell function that is dependent on for example receptors and the extracellular matrix function. Recent animal model knockout studies of GOLGB1 in mice, rat, and zebrafish have shown that phenotypes are different between species ranging from mild to severe craniofacial defects in the rodent models to just minor size defects in zebrafish. However, in adult zebrafish a tumoral calcinosis-like phenotype was observed, and in humans such phenotype has been linked to defective glycosyltransferase function (e.g. GALNT3 protein).