Giantin

GOLGB1
Identifiers
Aliases	GOLGB1 , GCP, GCP372, GOLIM1, golgin B1
External IDs	OMIM: 602500 MGI: 1099447 HomoloGene: 68401 GeneCards: GOLGB1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q13.33 Start 121,663,199 bp [1] End 121,749,767 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 B3 Start 36,875,140 bp [2] End 36,933,085 bp [2]
RNA expression pattern Bgee Top expressed in Achilles tendon colon corpus callosum stomach parotid gland lung sural nerve kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001948 protein binding sequence-specific DNA binding GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity RNA binding Cellular component integral component of membrane Golgi membrane Golgi stack cis-Golgi network Golgi apparatus membrane endoplasmic reticulum-Golgi intermediate compartment Biological process endoplasmic reticulum to Golgi vesicle-mediated transport Golgi organization regulation of transcription, DNA-templated protein localization to pericentriolar material Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2804	224139
Ensembl	ENSG00000173230	ENSMUSG00000034243
UniProt	Q14789	n/a
RefSeq (mRNA)	NM_001256486 NM_001256487 NM_001256488 NM_004487 NM_001366282 NM_001366283 NM_001366284 NM_001389631	NM_030035
RefSeq (protein)	NP_001243415 NP_001243416 NP_001243417 NP_004478 NP_001353211 NP_001353212 NP_001353213	n/a
Location (UCSC)	Chr 3: 121.66 – 121.75 Mb	Chr 16: 36.88 – 36.93 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Giantin or Golgin subfamily B member 1 is a protein that in humans is encoded by the GOLGB1 gene. ^{[5] [6] [7]} 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, ^[8] rat, ^[9] and zebrafish ^[10] 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). ^[11]

Function and Interactions

Giantin is a disulfide-linked homodimer which contains several (around 37) coiled-coiled domains. GOLGB1 protein is has been shown to interact with ACBD3 and with PLK3 ^[12] and vesicle tethering small GTPases Rab1 and Rab6. ^[13] Giantin also interacts with P115 at the N-terminal coils facilitating binding to the other Golgi matrix protein GM130 ^[14] that is thought to be important for Golgi secretory function. Loss-of function studies of giantin have also suggested a role in primary cilia ^{[15] [16]} function and defective regulation of glycosyltransferase expression and calcineurin signalling in tissue culture cells. ^{[17] [18]}

References

1. GRCh38: Ensembl release 89: ENSG00000173230 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034243 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Linstedt AD, Hauri HP (Nov 1993). "Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa". Mol Biol Cell. 4 (7): 679–93. doi:10.1091/mbc.4.7.679. PMC   300978 . PMID   7691276.
6. Oka T, Ungar D, Hughson FM, Krieger M (Apr 2004). "The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins". Mol Biol Cell. 15 (5): 2423–35. doi:10.1091/mbc.E03-09-0699. PMC   404034 . PMID   15004235.
7. "Entrez Gene: GOLGB1 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1".
8. Lan, Yu; Zhang, Nian; Liu, Han; Xu, Jingyue; Jiang, Rulang (2016-07-01). "Golgb1 regulates protein glycosylation and is crucial for mammalian palate development". Development. 143 (13): 2344–2355. doi:10.1242/dev.134577. ISSN   0950-1991. PMC   4958322 . PMID   27226319.
9. Katayama, Kentaro; Sasaki, Tetsu; Goto, Syo; Ogasawara, Kei; Maru, Hiromi; Suzuki, Katsushi; Suzuki, Hiroetsu (November 2011). "Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat". Bone. 49 (5): 1027–1036. doi:10.1016/j.bone.2011.08.001. PMID   21851869.
10. Bergen, Dylan J. M.; Stevenson, Nicola L.; Skinner, Roderick E. H.; Stephens, David J.; Hammond, Christina L. (2017-08-15). "The Golgi matrix protein giantin is required for normal cilia function in zebrafish". Biology Open. 6 (8): 1180–1189. doi:10.1242/bio.025502. ISSN   2046-6390. PMC   5576078 . PMID   28546340.
11. Stevenson, Nicola L.; Bergen, Dylan J. M.; Skinner, Roderick E. H.; Kague, Erika; Martin-Silverstone, Elizabeth; Robson Brown, Kate A.; Hammond, Chrissy L.; Stephens, David J. (2017-12-15). "Giantin-knockout models reveal a feedback loop between Golgi function and glycosyltransferase expression". Journal of Cell Science. 130 (24): 4132–4143. doi:10.1242/jcs.212308. ISSN   0021-9533. PMC   5769581 . PMID   29093022.
12. Sohda, M; Misumi Y; Yamamoto A; Yano A; Nakamura N; Ikehara Y (Nov 2001). "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin". J. Biol. Chem. 276 (48): 45298–306. doi: 10.1074/jbc.M108961200 . ISSN   0021-9258. PMID   11590181.
13. Rosing, Mechthild; Ossendorf, Edith; Rak, Alexey; Barnekow, Angelika (July 2007). "Giantin interacts with both the small GTPase Rab6 and Rab1". Experimental Cell Research. 313 (11): 2318–2325. doi:10.1016/j.yexcr.2007.03.031. PMID   17475246.
14. Brandon, Elizabeth; Gao, Yasheng; Garcia-Mata, Rafael; Alvarez, Cecilia; Sztul, Elizabeth (August 2003). "Membrane targeting of p115 phosphorylation mutants and their effects on Golgi integrity and secretory traffic". European Journal of Cell Biology. 82 (8): 411–420. doi:10.1078/0171-9335-00327. PMID   14533739.
15. Bergen, Dylan J. M.; Stevenson, Nicola L.; Skinner, Roderick E. H.; Stephens, David J.; Hammond, Christina L. (2017-08-15). "The Golgi matrix protein giantin is required for normal cilia function in zebrafish". Biology Open. 6 (8): 1180–1189. doi:10.1242/bio.025502. ISSN   2046-6390. PMC   5576078 . PMID   28546340.
16. Asante, D.; MacCarthy-Morrogh, L.; Townley, A. K.; Weiss, M. A.; Katayama, K.; Palmer, K. J.; Suzuki, H.; Westlake, C. J.; Stephens, D. J. (2013-11-15). "A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2". Journal of Cell Science. 126 (22): 5189–5197. doi:10.1242/jcs.131664. ISSN   0021-9533. PMC   3828591 . PMID   24046448.
17. Stevenson, Nicola L.; Bergen, Dylan J. M.; Skinner, Roderick E. H.; Kague, Erika; Martin-Silverstone, Elizabeth; Robson Brown, Kate A.; Hammond, Chrissy L.; Stephens, David J. (2017-12-15). "Giantin-knockout models reveal a feedback loop between Golgi function and glycosyltransferase expression". Journal of Cell Science. 130 (24): 4132–4143. doi:10.1242/jcs.212308. ISSN   0021-9533. PMC   5769581 . PMID   29093022.
18. Stevenson, Nicola L.; Bergen, Dylan J. M.; Xu, Amadeus; Wyatt, Emily; Henry, Freya; McCaughey, Janine; Vuolo, Laura; Hammond, Chrissy L.; Stephens, David J. (2018-05-01). "Regulator of calcineurin-2 is a centriolar protein with a role in cilia length control". Journal of Cell Science. 131 (9): jcs212258. doi:10.1242/jcs.212258. ISSN   0021-9533. PMC   5992583 . PMID   29643119.

Further reading

• Sohda M, Misumi Y, Fujiwara T, et al. (1995). "Molecular cloning and sequence analysis of a human 372-kDA protein localized in the Golgi complex". Biochem. Biophys. Res. Commun. 205 (2): 1399–408. doi:10.1006/bbrc.1994.2821. PMID   7802676.
• Seelig HP, Schranz P, Schröter H, et al. (1994). "Macrogolgin--a new 376 kD Golgi complex outer membrane protein as target of antibodies in patients with rheumatic diseases and HIV infections". J. Autoimmun. 7 (1): 67–91. doi:10.1006/jaut.1994.1006. PMID   8198703.
• Sönnichsen B, Lowe M, Levine T, et al. (1998). "A role for giantin in docking COPI vesicles to Golgi membranes". J. Cell Biol. 140 (5): 1013–21. doi:10.1083/jcb.140.5.1013. PMC   2132694 . PMID   9490716.
• Linstedt AD, Jesch SA, Mehta A, et al. (2000). "Binding relationships of membrane tethering components. The giantin N terminus and the GM130 N terminus compete for binding to the p115 C terminus". J. Biol. Chem. 275 (14): 10196–201. doi: 10.1074/jbc.275.14.10196 . PMID   10744704.
• Dirac-Svejstrup AB, Shorter J, Waters MG, Warren G (2000). "Phosphorylation of the vesicle-tethering protein p115 by a casein kinase II-like enzyme is required for Golgi reassembly from isolated mitotic fragments". J. Cell Biol. 150 (3): 475–88. doi:10.1083/jcb.150.3.475. PMC   2175190 . PMID   10931861.
• Alvarez C, Garcia-Mata R, Hauri HP, Sztul E (2001). "The p115-interactive proteins GM130 and giantin participate in endoplasmic reticulum-Golgi traffic". J. Biol. Chem. 276 (4): 2693–700. doi: 10.1074/jbc.M007957200 . PMID   11035033.
• Sohda M, Misumi Y, Yamamoto A, et al. (2002). "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin". J. Biol. Chem. 276 (48): 45298–306. doi: 10.1074/jbc.M108961200 . PMID   11590181.
• Shorter J, Beard MB, Seemann J, et al. (2002). "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". J. Cell Biol. 157 (1): 45–62. doi:10.1083/jcb.200112127. PMC   2173270 . PMID   11927603.
• Gillingham AK, Pfeifer AC, Munro S (2003). "CASP, the alternatively spliced product of the gene encoding the CCAAT-displacement protein transcription factor, is a Golgi membrane protein related to giantin". Mol. Biol. Cell. 13 (11): 3761–74. doi:10.1091/mbc.E02-06-0349. PMC   133590 . PMID   12429822.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Anderson NL, Polanski M, Pieper R, et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell. Proteomics. 3 (4): 311–26. doi: 10.1074/mcp.M300127-MCP200 . PMID   14718574.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• Breuza L, Halbeisen R, Jenö P, et al. (2004). "Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46". J. Biol. Chem. 279 (45): 47242–53. doi: 10.1074/jbc.M406644200 . PMID   15308636.
• Malsam J, Satoh A, Pelletier L, Warren G (2005). "Golgin tethers define subpopulations of COPI vesicles". Science. 307 (5712): 1095–8. Bibcode:2005Sci...307.1095M. doi:10.1126/science.1108061. PMID   15718469. S2CID   12601850.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Rosing M, Ossendorf E, Rak A, Barnekow A (2007). "Giantin interacts with both the small GTPase Rab6 and Rab1". Exp. Cell Res. 313 (11): 2318–25. doi:10.1016/j.yexcr.2007.03.031. PMID   17475246.