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]
End	121,749,966 bp[1]
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[2]
End	36,753,447 bp[2]
RNA expression pattern
	Top expressed in
	Achilles tendon; ; sural nerve; ; pancreatic ductal cell; ; parotid gland; ; tibia; ; sperm; ; body of pancreas; ; corpus epididymis; ; stromal cell of endometrium; ; bronchial epithelial cell;
	Top expressed in
	otolith organ; ; utricle; ; lacrimal gland; ; hand; ; prostate; ; salivary gland; ; molar; ; submandibular gland; ; pituitary gland; ; parotid gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; sequence-specific DNA binding; 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
	2804
	224139
	ENSG00000173230
	ENSMUSG00000034243
	Q14789
	n/a
NM_001256486; NM_001256487; NM_001256488; NM_004487; NM_001366282;
	NM_001366283; NM_001366284; NM_001389631
	NM_030035
NP_001243415; NP_001243416; NP_001243417; NP_004478; NP_001353211;
	NP_001353212; NP_001353213
	n/a
	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 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

GRCh38: Ensembl release 89: ENSG00000173230 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000034243 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: GOLGB1 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1".
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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. Bibcode:2002PNAS...9916899M. 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000173230 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid7691276-5] 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.

[pmid15004235-6] 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.

[entrez-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.

[pmid11590181-12] 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.

Giantin

Function and Interactions

References

Further reading