From Wikipedia, the free encyclopedia
(Redirected from GOLGB1)
GOLGB1
Identifiers
Aliases GOLGB1, GCP, GCP372, GOLIM1, golgin B1
External IDs OMIM: 602500; MGI: 1099447; HomoloGene: 68401; GeneCards: GOLGB1; OMA: GOLGB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030035

RefSeq (protein)

n/a

Location (UCSC) Chr 3: 121.66 – 121.75 Mb Chr 16: 36.7 – 36.75 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 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000173230Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034243Ensembl, 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

From Wikipedia, the free encyclopedia
(Redirected from GOLGB1)
GOLGB1
Identifiers
Aliases GOLGB1, GCP, GCP372, GOLIM1, golgin B1
External IDs OMIM: 602500; MGI: 1099447; HomoloGene: 68401; GeneCards: GOLGB1; OMA: GOLGB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030035

RefSeq (protein)

n/a

Location (UCSC) Chr 3: 121.66 – 121.75 Mb Chr 16: 36.7 – 36.75 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 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000173230Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034243Ensembl, 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


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